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Gene: DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2) Homo sapiens

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Symbol:

DNAJB2

Name:

DnaJ heat shock protein family (Hsp40) member B2

RGD ID:

1318848

HGNC Page

HGNC:5228

Description:

Enables several functions, including Hsp70 protein binding activity; enzyme binding activity; and proteasome binding activity. Involved in several processes, including proteasomal protein catabolic process; protein folding; and regulation of protein metabolic process. Located in several cellular components, including nuclear membrane; perinuclear region of cytoplasm; and proteasome complex. Implicated in autosomal recessive distal hereditary motor neuronopathy 5.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CMT2T; DnaJ (Hsp40) homolog, subfamily B, member 2; dnaJ homolog subfamily B member 2; dnaJ protein homolog 1; DSMA5; heat shock 40 kDa protein 3; heat shock protein J1; heat shock protein, neuronal DNAJ-like 1; HMNR5; HSJ-1; HSJ1; HSPF3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	219,279,366 - 219,286,895 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	219,279,342 - 219,286,898 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	220,144,088 - 220,151,617 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	219,852,284 - 219,859,866 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	219,969,602 - 219,977,127	NCBI
Celera	2	213,913,742 - 213,921,325 (+)	NCBI		Celera
Cytogenetic Map	2	q35	NCBI
HuRef	2	211,997,126 - 212,004,708 (+)	NCBI		HuRef
CHM1_1	2	220,149,887 - 220,157,470 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	219,764,122 - 219,771,651 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	alacrima, achalasia, and impaired intellectual development syndrome		IAGP	RGD:151824666	8554872	ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome	ClinVar	PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 2		IAGP	RGD:9832228	8554872	ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2	ClinVar	PMID:24627108\|PMID:25274842\|PMID:25741868
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 2		IAGP	RGD:9832227	8554872	ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2	ClinVar	PMID:25274842\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 2		IAGP	RGD:10448453	8554872	ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2	ClinVar	PMID:22522442\|PMID:25741868\|PMID:26752306\|PMID:27083531\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:26922456	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:151842769\|RGD:155691321\|RGD:405023765\|RGD:405086708	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:156311917\|RGD:156330134\|RGD:156374889\|RGD:156415278\|RGD:156450223\|RGD:26885131\|RGD:26887233\|RGD:26888378\|RGD:26889409\|RGD:26889498\|RGD:26900256\|RGD:26903087\|RGD:26920744\|RGD:38466394\|RGD:38471726\|RGD:38474017\|RGD:38480144\|RGD:38482541\|RGD:38483147\|RGD:38483209\|RGD:38485213\|RGD:38486487\|RGD:38490542\|RGD:38493950\|RGD:38495628\|RGD:38497275\|RGD:402474937\|RGD:405017848\|RGD:405018621\|RGD:405020007\|RGD:405027110\|RGD:405030126\|RGD:405030747\|RGD:405032119\|RGD:405039087\|RGD:405045060\|RGD:405077613\|RGD:405082817\|RGD:405085411\|RGD:405088669\|RGD:405090920\|RGD:405094573\|RGD:405144006\|RGD:405152079\|RGD:405152705\|RGD:405170268\|RGD:405188375\|RGD:405203139\|RGD:597846449\|RGD:597858651\|RGD:597859433\|RGD:597870821\|RGD:597879313\|RGD:597879811\|RGD:597905554\|RGD:597905751\|RGD:597917040\|RGD:597919209\|RGD:597929506\|RGD:597937776\|RGD:597958765\|RGD:597961830\|RGD:597963364	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:11095893\|RGD:11523467\|RGD:11523631\|RGD:11523789\|RGD:126757645\|RGD:126759066\|RGD:126763927\|RGD:126766632\|RGD:126908134\|RGD:126919281\|RGD:126923250\|RGD:126924672\|RGD:127246703\|RGD:127247747\|RGD:127250502\|RGD:127272830\|RGD:127277960\|RGD:127283645\|RGD:127288002\|RGD:127302752\|RGD:127305294\|RGD:127332649\|RGD:127336777\|RGD:12837364\|RGD:12846121\|RGD:12900053\|RGD:12900201\|RGD:13475460\|RGD:13484230\|RGD:13530344\|RGD:13540896\|RGD:13623055\|RGD:13623068\|RGD:13623069\|RGD:13623071\|RGD:13803477\|RGD:13808791\|RGD:13809815\|RGD:13812489\|RGD:13813690\|RGD:13815631\|RGD:13817118\|RGD:14717251\|RGD:14722635\|RGD:14726891\|RGD:14733421\|RGD:15104321\|RGD:15104888\|RGD:15110585\|RGD:15110918\|RGD:15117374\|RGD:15128191\|RGD:15132680\|RGD:15149647\|RGD:15160490\|RGD:15163836\|RGD:151725957\|RGD:151744379\|RGD:15174887\|RGD:151751557\|RGD:151761422\|RGD:151763033\|RGD:151775903\|RGD:151776953\|RGD:151792327\|RGD:15180248\|RGD:151809519\|RGD:151811133\|RGD:151814392\|RGD:151819627\|RGD:151821354\|RGD:151839873\|RGD:151856501\|RGD:151859268\|RGD:151860602\|RGD:151869346\|RGD:151888847\|RGD:152036347\|RGD:152042086\|RGD:152046742\|RGD:152058319\|RGD:152059089\|RGD:152069349\|RGD:152069675\|RGD:152080086\|RGD:152089625\|RGD:152097175\|RGD:152115104\|RGD:152128699\|RGD:152129331\|RGD:152142985\|RGD:152144851\|RGD:152150607\|RGD:152162855\|RGD:152164297\|RGD:152165402\|RGD:155669865\|RGD:155905863\|RGD:155928701\|RGD:155986797\|RGD:155998038\|RGD:156004944\|RGD:156009205\|RGD:156036866\|RGD:156046334\|RGD:156058359\|RGD:156073373\|RGD:156076472\|RGD:156095741\|RGD:156120352\|RGD:156144232\|RGD:156157803\|RGD:156164271\|RGD:156182509\|RGD:156190348\|RGD:156196238\|RGD:156207697\|RGD:156217505\|RGD:156218776\|RGD:156226333\|RGD:156265888\|RGD:156291389\|RGD:156295834\|RGD:156305155	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:11642503\|RGD:126773110\|RGD:12837396\|RGD:12847487\|RGD:12848315\|RGD:12912937\|RGD:13436156\|RGD:13469483\|RGD:13491596\|RGD:13496180\|RGD:13623054\|RGD:13623056\|RGD:13623070\|RGD:13821333\|RGD:14722416\|RGD:14733349\|RGD:14744458\|RGD:15098939\|RGD:151763445\|RGD:34890322\|RGD:34890324\|RGD:34890326\|RGD:8690867\|RGD:8690868	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:25741868\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:14396617\|RGD:14740921\|RGD:155643974\|RGD:243056238\|RGD:243057953\|RGD:28876835\|RGD:596925933	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:25741868
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:126765064\|RGD:13811516\|RGD:151826269\|RGD:155941400\|RGD:26913147\|RGD:26921397\|RGD:38482285	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9536098
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:151881871\|RGD:156116568\|RGD:26903080	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:22522442\|PMID:25274842\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:151349948\|RGD:405040261	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:9832227	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:25274842\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:11542140	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:27449489
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:151734682	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:28492532\|PMID:32376792
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:10448453	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:22522442\|PMID:25741868\|PMID:26752306\|PMID:27083531\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:14706466	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:11089158	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532\|PMID:32376792
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:9832228	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:24627108\|PMID:25274842\|PMID:25741868
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP	RGD:11523007\|RGD:11523033	8554872	ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5	ClinVar	PMID:23806086\|PMID:24088041\|PMID:26257172
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:26922456	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:12837396\|RGD:12847487\|RGD:12848315\|RGD:13436156\|RGD:13469483\|RGD:13491596\|RGD:13623056\|RGD:13821333\|RGD:14733349\|RGD:34890322\|RGD:34890324\|RGD:34890326\|RGD:8690867\|RGD:8690868	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:25741868\|PMID:28492532
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:34889867\|RGD:34890316\|RGD:34890317\|RGD:34890321\|RGD:34890328\|RGD:34890330	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:25741868
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:9832227	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:25274842\|PMID:28492532
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:10448453	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:22522442\|PMID:25741868\|PMID:26752306\|PMID:27083531\|PMID:28492532
DNAJB2	Human	Charcot-Marie-Tooth disease		IAGP	RGD:9832228	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:24627108\|PMID:25274842\|PMID:25741868
DNAJB2	Human	Charcot-Marie-Tooth disease axonal type 2T		IAGP	RGD:10406288	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T	ClinVar	PMID:24088041\|PMID:26633545
DNAJB2	Human	Charcot-Marie-Tooth disease type 2		IAGP	RGD:11089158	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532\|PMID:32376792
DNAJB2	Human	Charcot-Marie-Tooth disease X-linked dominant 1		IAGP	RGD:10448453	8554872	ClinVar Annotator: match by term: HMSN, X-LINKED	ClinVar	PMID:22522442\|PMID:25741868\|PMID:26752306\|PMID:27083531\|PMID:28492532
DNAJB2	Human	genetic disease		IAGP	RGD:11089158	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:25741868\|PMID:28492532\|PMID:32376792
DNAJB2	Human	genetic disease		IAGP	RGD:155664779\|RGD:155664936\|RGD:155666808\|RGD:155669649\|RGD:155682798\|RGD:155722549\|RGD:155722633\|RGD:155742790\|RGD:156081431\|RGD:329402247\|RGD:597649041\|RGD:597649048	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
DNAJB2	Human	genetic disease		IAGP	RGD:155691321	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16199547\|PMID:22522442\|PMID:25274842\|PMID:28492532
DNAJB2	Human	genetic disease		IAGP	RGD:11095893\|RGD:126763927\|RGD:13540896\|RGD:13803477\|RGD:13808791\|RGD:14726891\|RGD:151776953\|RGD:155669865\|RGD:26885131\|RGD:26889498\|RGD:38485213	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
DNAJB2	Human	genetic disease		IAGP	RGD:12837396\|RGD:12847487\|RGD:12848315\|RGD:13436156\|RGD:13491596\|RGD:13496180\|RGD:13623056\|RGD:14733349\|RGD:14744458	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532
DNAJB2	Human	genetic disease		IAGP	RGD:151734682	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532\|PMID:32376792
DNAJB2	Human	genetic disease		IAGP	RGD:155706211	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25274842
DNAJB2	Human	genetic disease		IAGP	RGD:10448453	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:22522442\|PMID:25741868\|PMID:26752306\|PMID:27083531\|PMID:28492532
DNAJB2	Human	myofibrillar myopathy 1		IAGP	RGD:13818587	8554872	ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy	ClinVar	PMID:28492532
DNAJB2	Human	Neurodevelopmental Disorders		IAGP	RGD:14698285	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
DNAJB2	Human	paroxysmal nonkinesigenic dyskinesia 1		IAGP	RGD:151824666	8554872	ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia	ClinVar	PMID:28492532
DNAJB2	Human	polydactyly		IAGP	RGD:14349785	8554872	ClinVar Annotator: match by term: Polydactyly	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	autosomal recessive distal hereditary motor neuronopathy 5		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1616809	6480464	1,2-Dimethylhydrazine results in increased expression of DNAJB2 mRNA	CTD	PMID:22206623
DNAJB2	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1616809	6480464	Folic Acid inhibits the reaction [1,2-Dimethylhydrazine results in increased expression of DNAJB2 mRNA]	CTD	PMID:22206623
DNAJB2	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of DNAJB2 mRNA	CTD	PMID:20106945
DNAJB2	Human	1H-pyrazole	increases expression	ISO	RGD:1616809	6480464	pyrazole results in increased expression of DNAJB2 mRNA	CTD	PMID:17945193
DNAJB2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1591035	6480464	Tetrachlorodibenzodioxin results in decreased expression of DNAJB2 mRNA	CTD	PMID:21215274
DNAJB2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1591035	6480464	Tetrachlorodibenzodioxin results in increased expression of DNAJB2 mRNA	CTD	PMID:33387578\|PMID:34747641
DNAJB2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of DNAJB2 mRNA	CTD	PMID:22574217
DNAJB2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1616809	6480464	Tetrachlorodibenzodioxin affects the expression of DNAJB2 mRNA	CTD	PMID:21570461
DNAJB2	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1,3-dimethyl ether] results in increased expression of and affects the more ...	CTD	PMID:38598786
DNAJB2	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of DNAJB2 mRNA	CTD	PMID:21179406
DNAJB2	Human	3-chloropropane-1,2-diol	increases expression	ISO	RGD:1591035	6480464	alpha-Chlorohydrin results in increased expression of DNAJB2 protein	CTD	PMID:34915118
DNAJB2	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1616809	6480464	bisphenol S results in increased expression of DNAJB2 mRNA	CTD	PMID:39298647
DNAJB2	Human	5-aza-2'-deoxycytidine	affects expression	EXP		6480464	Decitabine affects the expression of DNAJB2 mRNA	CTD	PMID:23300844
DNAJB2	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1591035	6480464	Propylthiouracil results in decreased expression of DNAJB2 mRNA	CTD	PMID:24780913
DNAJB2	Human	acrylamide	increases expression	ISO	RGD:1591035	6480464	Acrylamide results in increased expression of DNAJB2 mRNA	CTD	PMID:28959563
DNAJB2	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of DNAJB2 protein	CTD	PMID:20106945
DNAJB2	Human	aflatoxin B1	decreases expression	ISO	RGD:1591035	6480464	Aflatoxin B1 results in decreased expression of DNAJB2 mRNA	CTD	PMID:33354967
DNAJB2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of DNAJB2 3' UTR	CTD	PMID:30157460
DNAJB2	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of DNAJB2 mRNA	CTD	PMID:22100608
DNAJB2	Human	aflatoxin B1	increases expression	ISO	RGD:1616809	6480464	Aflatoxin B1 results in increased expression of DNAJB2 mRNA	CTD	PMID:19770486
DNAJB2	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of DNAJB2 mRNA	CTD	PMID:33167477
DNAJB2	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of DNAJB2 mRNA	CTD	PMID:33212167
DNAJB2	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of DNAJB2 mRNA	CTD	PMID:19417148
DNAJB2	Human	benzene	decreases expression	ISO	RGD:1616809	6480464	Benzene results in decreased expression of DNAJB2 mRNA	CTD	PMID:15120971\|PMID:15122651
DNAJB2	Human	benzo[a]pyrene	increases expression	ISO	RGD:1616809	6480464	Benzo(a)pyrene results in increased expression of DNAJB2 mRNA	CTD	PMID:19770486
DNAJB2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of DNAJB2 promoter	CTD	PMID:27901495
DNAJB2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of DNAJB2 3' UTR	CTD	PMID:27901495
DNAJB2	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of DNAJB2 mRNA	CTD	PMID:21632981\|PMID:32234424
DNAJB2	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:1616809	6480464	Benzo(a)pyrene promotes the reaction [AHR protein binds to DNAJB2 promoter]	CTD	PMID:19654925
DNAJB2	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of DNAJB2 mRNA	CTD	PMID:38218311
DNAJB2	Human	bisphenol A	affects expression	ISO	RGD:1591035	6480464	bisphenol A affects the expression of DNAJB2 mRNA	CTD	PMID:25181051
DNAJB2	Human	bisphenol A	decreases expression	ISO	RGD:1616809	6480464	bisphenol A results in decreased expression of DNAJB2 mRNA	CTD	PMID:35598803
DNAJB2	Human	bisphenol A	decreases expression	ISO	RGD:1591035	6480464	bisphenol A results in decreased expression of DNAJB2 mRNA	CTD	PMID:30816183\|PMID:32528016\|PMID:34947998
DNAJB2	Human	bisphenol A	decreases methylation	ISO	RGD:1591035	6480464	bisphenol A results in decreased methylation of DNAJB2 gene	CTD	PMID:28505145
DNAJB2	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of DNAJB2 mRNA	CTD	PMID:26079696
DNAJB2	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of DNAJB2 mRNA	CTD	PMID:25596134
DNAJB2	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of DNAJB2 mRNA	CTD	PMID:38568856
DNAJB2	Human	carbon nanotube	decreases expression	ISO	RGD:1616809	6480464	Nanotubes, Carbon analog results in decreased expression of DNAJB2 mRNA	CTD	PMID:25554681\|PMID:25620056
DNAJB2	Human	chloroacetaldehyde	increases expression	EXP		6480464	chloroacetaldehyde results in increased expression of DNAJB2 mRNA	CTD	PMID:25596134
DNAJB2	Human	ciguatoxin CTX1B	affects expression	ISO	RGD:1616809	6480464	Ciguatoxins affects the expression of DNAJB2 mRNA	CTD	PMID:18353800
DNAJB2	Human	cisplatin	affects expression	EXP		6480464	Cisplatin affects the expression of DNAJB2 mRNA	CTD	PMID:23300844
DNAJB2	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of DNAJB2 mRNA	CTD	PMID:27392435
DNAJB2	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of DNAJB2 mRNA	CTD	PMID:27392435
DNAJB2	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of DNAJB2 mRNA	CTD	PMID:25596134\|PMID:27594783
DNAJB2	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of DNAJB2 mRNA	CTD	PMID:20106945\|PMID:25562108\|PMID:25596134
DNAJB2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of DNAJB2 mRNA	CTD	PMID:27989131
DNAJB2	Human	DDE	decreases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in decreased expression of DNAJB2 mRNA	CTD	PMID:38568856
DNAJB2	Human	decabromodiphenyl ether	increases expression	ISO	RGD:1591035	6480464	decabromobiphenyl ether results in increased expression of DNAJB2 mRNA	CTD	PMID:23914054
DNAJB2	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of DNAJB2 mRNA	CTD	PMID:19417148
DNAJB2	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of DNAJB2 gene	CTD	PMID:22964155
DNAJB2	Human	dinophysistoxin 1	increases expression	EXP		6480464	dinophysistoxin 1 results in increased expression of DNAJB2 mRNA	CTD	PMID:28939011
DNAJB2	Human	dioxygen	increases expression	EXP		6480464	Oxygen deficiency results in increased expression of DNAJB2 mRNA	CTD	PMID:25596134
DNAJB2	Human	diuron	decreases expression	ISO	RGD:1591035	6480464	Diuron results in decreased expression of DNAJB2 mRNA	CTD	PMID:21551480
DNAJB2	Human	ethanol	affects splicing	ISO	RGD:1616809	6480464	Ethanol affects the splicing of DNAJB2 mRNA	CTD	PMID:30319688
DNAJB2	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of DNAJB2 mRNA	CTD	PMID:23649840
DNAJB2	Human	fenvalerate	increases expression	ISO	RGD:1591035	6480464	fenvalerate results in increased expression of DNAJB2 mRNA	CTD	PMID:30307764
DNAJB2	Human	folic acid	decreases expression	ISO	RGD:1616809	6480464	Folic Acid results in decreased expression of DNAJB2 mRNA	CTD	PMID:25629700
DNAJB2	Human	folic acid	multiple interactions	ISO	RGD:1616809	6480464	Folic Acid inhibits the reaction [1,2-Dimethylhydrazine results in increased expression of DNAJB2 mRNA]	CTD	PMID:22206623
DNAJB2	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of DNAJB2 mRNA	CTD	PMID:23649840
DNAJB2	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of DNAJB2 protein	CTD	PMID:37730182
DNAJB2	Human	gentamycin	increases expression	ISO	RGD:1591035	6480464	Gentamicins results in increased expression of DNAJB2 mRNA	CTD	PMID:33387578
DNAJB2	Human	GSK-J4	increases expression	EXP		6480464	GSK-J4 results in increased expression of DNAJB2 mRNA	CTD	PMID:29301935
DNAJB2	Human	hydrazine	increases expression	ISO	RGD:1616809	6480464	hydrazine results in increased expression of DNAJB2 mRNA	CTD	PMID:15282401
DNAJB2	Human	ibuprofen	increases expression	EXP		6480464	Ibuprofen results in increased expression of DNAJB2 mRNA	CTD	PMID:25596134
DNAJB2	Human	ifosfamide	increases expression	EXP		6480464	Ifosfamide results in increased expression of DNAJB2 mRNA	CTD	PMID:25596134
DNAJB2	Human	L-serine	increases expression	EXP		6480464	Serine results in increased expression of DNAJB2 mRNA	CTD	PMID:29098664
DNAJB2	Human	lead(0)	affects expression	EXP		6480464	Lead affects the expression of DNAJB2 mRNA	CTD	PMID:28903495
DNAJB2	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of DNAJB2 mRNA	CTD	PMID:23649840
DNAJB2	Human	N-methyl-4-phenylpyridinium	affects expression	EXP		6480464	1-Methyl-4-phenylpyridinium affects the expression of DNAJB2 mRNA	CTD	PMID:25234470
DNAJB2	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of DNAJB2 mRNA	CTD	PMID:28939011
DNAJB2	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of DNAJB2 mRNA	CTD	PMID:35430440
DNAJB2	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of DNAJB2 mRNA	CTD	PMID:29067470
DNAJB2	Human	paracetamol	increases expression	ISO	RGD:1591035	6480464	Acetaminophen results in increased expression of DNAJB2 mRNA	CTD	PMID:33387578
DNAJB2	Human	pirinixic acid	increases expression	ISO	RGD:1616809	6480464	pirinixic acid results in increased expression of DNAJB2 mRNA	CTD	PMID:15375163
DNAJB2	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of DNAJB2 mRNA	CTD	PMID:21632981
DNAJB2	Human	sarin	decreases expression	EXP		6480464	Sarin results in decreased expression of DNAJB2 mRNA	CTD	PMID:19522546
DNAJB2	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of DNAJB2 mRNA	CTD	PMID:38568856
DNAJB2	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
DNAJB2	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1,3-dimethyl ether] results in increased expression of and affects the more ...	CTD	PMID:38598786
DNAJB2	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of DNAJB2 mRNA	CTD	PMID:31533062
DNAJB2	Human	tetrachloromethane	increases expression	ISO	RGD:1616809	6480464	Carbon Tetrachloride results in increased expression of DNAJB2 mRNA	CTD	PMID:31919559
DNAJB2	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of DNAJB2 mRNA	CTD	PMID:38568856
DNAJB2	Human	titanium dioxide	decreases methylation	ISO	RGD:1616809	6480464	titanium dioxide results in decreased methylation of DNAJB2 gene; titanium dioxide results in decreased methylation more ...	CTD	PMID:35295148
DNAJB2	Human	trichloroethene	increases expression	ISO	RGD:1591035	6480464	Trichloroethylene results in increased expression of DNAJB2 mRNA	CTD	PMID:33387578
DNAJB2	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of DNAJB2 mRNA	CTD	PMID:24973648
DNAJB2	Human	triptonide	increases expression	ISO	RGD:1616809	6480464	triptonide results in increased expression of DNAJB2 mRNA	CTD	PMID:33045310
DNAJB2	Human	troglitazone	increases expression	EXP		6480464	troglitazone results in increased expression of DNAJB2 mRNA	CTD	PMID:19140230
DNAJB2	Human	trovafloxacin	multiple interactions	ISO	RGD:1616809	6480464	[trovafloxacin co-treated with lipopolysaccharide, E coli O55-B5] results in decreased expression of DNAJB2 mRNA	CTD	PMID:18930950
DNAJB2	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of DNAJB2 mRNA	CTD	PMID:22378314
DNAJB2	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of DNAJB2 mRNA	CTD	PMID:28818685
DNAJB2	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of DNAJB2 mRNA	CTD	PMID:29154799
DNAJB2	Human	zinc atom	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of DNAJB2 mRNA	CTD	PMID:18593933
DNAJB2	Human	zinc(0)	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of DNAJB2 mRNA	CTD	PMID:18593933

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	ERAD pathway	involved_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	negative regulation of cell growth	involved_in	IGI	UniProtKB:P0DMV8\|UniProtKB:P0DMV9	150520179	PMID:9553041	UniProt	PMID:9553041
DNAJB2	Human	negative regulation of cell population proliferation	involved_in	IGI	UniProtKB:P0DMV8\|UniProtKB:P0DMV9	150520179	PMID:9553041	UniProt	PMID:9553041
DNAJB2	Human	negative regulation of inclusion body assembly	involved_in	IDA		150520179	PMID:15936278, PMID:21231916	BHF-UCL	PMID:15936278\|PMID:21231916
DNAJB2	Human	negative regulation of inclusion body assembly	involved_in	IMP		150520179	PMID:20889486	ParkinsonsUK-UCL	PMID:20889486
DNAJB2	Human	negative regulation of protein deubiquitination	involved_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	neuron cellular homeostasis	involved_in	TAS		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	obsolete chaperone-mediated protein folding	involved_in	IEA	InterPro:IPR043183	150520179		InterPro	GO_REF:0000002
DNAJB2	Human	obsolete chaperone-mediated protein folding	involved_in	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	obsolete chaperone-mediated protein folding	involved_in	IMP		150520179	PMID:24023695	UniProt	PMID:24023695
DNAJB2	Human	obsolete regulation of chaperone-mediated protein folding	involved_in	IDA		150520179	PMID:7957263	UniProt	PMID:7957263
DNAJB2	Human	positive regulation of ATP-dependent activity	involved_in	IDA		150520179	PMID:22219199, PMID:7957263	UniProt	PMID:22219199\|PMID:7957263
DNAJB2	Human	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	involved_in	TAS		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	involved_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	positive regulation of protein ubiquitination	involved_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	proteasome-mediated ubiquitin-dependent protein catabolic process	involved_in	IMP		150520179	PMID:21625540	UniProt	PMID:21625540
DNAJB2	Human	protein refolding	involved_in	IDA		150520179	PMID:21231916	UniProt	PMID:21231916
DNAJB2	Human	protein refolding	involved_in	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	regulation of protein localization	involved_in	IMP		150520179	PMID:20889486	ParkinsonsUK-UCL	PMID:20889486
DNAJB2	Human	regulation of protein ubiquitination	involved_in	IMP		150520179	PMID:24023695	UniProt	PMID:24023695
DNAJB2	Human	response to unfolded protein	involved_in	TAS		150520179	PMID:1599432	PINC	PMID:1599432

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
DNAJB2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
DNAJB2	Human	cytoplasm	located_in	IDA		150520179	PMID:12754272, PMID:21625540, PMID:28031292	UniProt	PMID:12754272\|PMID:21625540\|PMID:28031292
DNAJB2	Human	cytoplasmic side of endoplasmic reticulum membrane	located_in	TAS		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	cytosol	located_in	IDA		150520179	PMID:21231916	UniProt	PMID:21231916
DNAJB2	Human	cytosol	is_active_in	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
DNAJB2	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
DNAJB2	Human	endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:12754272	UniProt	PMID:12754272
DNAJB2	Human	inclusion body	located_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
DNAJB2	Human	nuclear membrane	located_in	IDA		150520179		HPA	GO_REF:0000052
DNAJB2	Human	nucleus	NOT\|located_in	IDA		150520179	PMID:12754272	UniProt	PMID:12754272
DNAJB2	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
DNAJB2	Human	nucleus	located_in	IDA		150520179	PMID:12754272, PMID:21231916, PMID:28031292	ARUK-UCL	PMID:12754272\|PMID:21231916\|PMID:28031292
DNAJB2	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
DNAJB2	Human	perinuclear region of cytoplasm	located_in	IDA		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	proteasome complex	located_in	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	ATPase activator activity	enables	IDA		150520179	PMID:22219199, PMID:7957263	UniProt	PMID:22219199\|PMID:7957263
DNAJB2	Human	ATPase activator activity	enables	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	Hsp70 protein binding	enables	IEA	InterPro:IPR043183	150520179		InterPro	GO_REF:0000002
DNAJB2	Human	Hsp70 protein binding	enables	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	Hsp70 protein binding	enables	IPI	UniProtKB:P0DMV8	150520179	PMID:22219199	UniProt	PMID:22219199
DNAJB2	Human	Hsp70 protein binding	enables	IPI	UniProtKB:P11142	150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	Hsp70 protein binding	enables	IDA		150520179	PMID:21625540	UniProt	PMID:21625540
DNAJB2	Human	polyubiquitin modification-dependent protein binding	enables	IDA		150520179	PMID:15936278, PMID:21625540	BHF-UCL	PMID:15936278\|PMID:21625540
DNAJB2	Human	proteasome binding	enables	IDA		150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P58340	150520179	PMID:25036637, PMID:33961781	IntAct	PMID:25036637\|PMID:33961781
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P25686\|UniProtKB:P25686-2\|UniProtKB:P54252	150520179	PMID:21625540	UniProt	PMID:21625540
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P32245	150520179	PMID:21719532	UniProt	PMID:21719532
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P00441	150520179	PMID:24023695	UniProt	PMID:24023695
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P08100	150520179	PMID:12754272	UniProt	PMID:12754272
DNAJB2	Human	protein binding	enables	IPI	UniProtKB:P62979\|UniProtKB:P62987	150520179	PMID:15936278	BHF-UCL	PMID:15936278
DNAJB2	Human	protein serine/threonine kinase binding	enables	IPI	UniProtKB:P19784\|UniProtKB:P68400	150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	protein transporter activity	enables	TAS		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	protein-folding chaperone binding	enables	IPI	UniProtKB:P0DMV8\|UniProtKB:P0DMV9\|UniProtKB:P17066	150520179	PMID:21231916	UniProt	PMID:21231916
DNAJB2	Human	ubiquitin binding	enables	IDA		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	ubiquitin protein ligase binding	enables	IPI	UniProtKB:O60260	150520179	PMID:20889486	ParkinsonsUK-UCL	PMID:20889486
DNAJB2	Human	ubiquitin-modified protein reader activity	enables	IDA		150520179	PMID:28031292	ARUK-UCL	PMID:28031292
DNAJB2	Human	unfolded protein binding	enables	IDA		150520179	PMID:21231916, PMID:24023695	UniProt	PMID:21231916\|PMID:24023695
DNAJB2	Human	unfolded protein binding	enables	IBA	PANTHER:PTN002376289\|UniProtKB:P25686	150520179		GO_Central	GO_REF:0000033
DNAJB2	Human	unfolded protein binding	enables	IEA	InterPro:IPR043183	150520179		InterPro	GO_REF:0000002

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	Endoplasmic Reticulum-associated degradation pathway		IEA		6907045		KEGG	hsa:04141

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	Areflexia		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Distal lower limb amyotrophy		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Distal muscle weakness		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Distal sensory impairment		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Dysphonia		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Foot dorsiflexor weakness		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Gait disturbance		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Pes cavus		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Slowly progressive		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Spinal muscular atrophy		IAGP		8699517		HPO	MIM:614881\|PMID:22522442
DNAJB2	Human	Young adult onset		IAGP		8699517		HPO	MIM:614881\|PMID:22522442

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
DNAJB2	Human	Polydactyly		IAGP	RGD:14349785	8554872	ClinVar Annotator: match by term: Polydactyly	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1599432	PMID:7957263	PMID:8889548	PMID:9553041	PMID:10516435	PMID:11147971	PMID:12107410	PMID:12477932	PMID:12754272	PMID:14751250	PMID:14759258	PMID:15231748
PMID:15489334	PMID:15936278	PMID:16604191	PMID:17082820	PMID:17207965	PMID:17601350	PMID:17847007	PMID:18321953	PMID:18977241	PMID:19285159	PMID:20301462	PMID:20301532
PMID:20395441	PMID:20889486	PMID:21231916	PMID:21625540	PMID:21719532	PMID:21873635	PMID:22190034	PMID:22219199	PMID:22396390	PMID:22522442	PMID:23752268	PMID:23940030
PMID:24023695	PMID:24189400	PMID:25036637	PMID:25201988	PMID:25260751	PMID:25274842	PMID:26186194	PMID:26618866	PMID:26936937	PMID:27449489	PMID:27591049	PMID:28031292
PMID:28504929	PMID:28514442	PMID:29180619	PMID:29509190	PMID:29791485	PMID:31073040	PMID:31324722	PMID:31682009	PMID:32393512	PMID:32687490	PMID:33567341	PMID:33665565
PMID:33845483	PMID:33957083	PMID:33961781	PMID:34599178	PMID:35032548	PMID:35286755	PMID:35563538	PMID:35676246	PMID:35914814	PMID:36180527	PMID:36724073	PMID:36746103
PMID:36880596	PMID:37314216	PMID:37317656	PMID:37704626	PMID:38803224	PMID:39774270

DNAJB2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	219,279,366 - 219,286,895 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	219,279,342 - 219,286,898 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	220,144,088 - 220,151,617 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	219,852,284 - 219,859,866 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	219,969,602 - 219,977,127	NCBI
Celera	2	213,913,742 - 213,921,325 (+)	NCBI		Celera
Cytogenetic Map	2	q35	NCBI
HuRef	2	211,997,126 - 212,004,708 (+)	NCBI		HuRef
CHM1_1	2	220,149,887 - 220,157,470 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	219,764,122 - 219,771,651 (+)	NCBI		T2T-CHM13v2.0

Dnajb2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	75,213,039 - 75,222,336 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	75,213,050 - 75,222,336 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	75,236,395 - 75,245,692 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	75,236,406 - 75,245,692 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	75,232,998 - 75,242,267 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	75,119,635 - 75,128,838 (+)	NCBI		MGSCv36	mm8
Celera	1	75,727,318 - 75,736,588 (+)	NCBI		Celera
Cytogenetic Map	1	C4	NCBI
cM Map	1	38.64	NCBI

Dnajb2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	84,179,702 - 84,187,942 (+)	NCBI		GRCr8
mRatBN7.2	9	76,731,060 - 76,739,278 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	76,731,065 - 76,739,277 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	85,175,912 - 85,184,076 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	90,304,803 - 90,312,970 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	88,691,018 - 88,699,186 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	82,436,453 - 82,444,669 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	82,436,458 - 82,444,668 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	82,205,714 - 82,213,930 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	9	74,517,647 - 74,525,857 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	9	74,301,465 - 74,309,675 (+)	NCBI		Celera
Cytogenetic Map	9	q33	NCBI

Dnajb2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955453	14,148,070 - 14,154,670 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955453	14,147,286 - 14,154,396 (-)	NCBI	ChiLan1.0	ChiLan1.0

DNAJB2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	13	121,909,722 - 121,917,299 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	121,924,702 - 121,932,264 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	106,536,846 - 106,544,430 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	225,127,967 - 225,135,556 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	225,127,967 - 225,135,556 (+)	Ensembl	panpan1.1		panPan2

DNAJB2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	37	25,826,496 - 25,834,011 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	37	25,827,713 - 25,833,144 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	37	26,652,500 - 26,659,869 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	37	25,841,856 - 25,849,227 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	37	25,841,844 - 25,849,222 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	37	25,746,217 - 25,753,596 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	37	25,681,582 - 25,688,947 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	37	25,702,255 - 25,709,637 (+)	NCBI		UU_Cfam_GSD_1.0

Dnajb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	175,347,122 - 175,354,398 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936569	1,689,507 - 1,698,954 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936569	1,689,926 - 1,697,179 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DNAJB2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	121,319,982 - 121,335,991 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	121,319,897 - 121,335,927 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	134,355,341 - 134,363,197 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DNAJB2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	10	105,185,987 - 105,193,749 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	105,186,608 - 105,194,574 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	94,203,755 - 94,211,383 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dnajb2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624823	5,730,386 - 5,738,459 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624823	5,730,553 - 5,737,668 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in DNAJB2
284 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_006736.6(DNAJB2):c.446-8G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173853]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000545361]\|not provided [RCV001653910]	Chr2:219283125 [GRCh38] Chr2:220147847 [GRCh37] Chr2:2q35	benign
DNAJB2, IVS5DS, G-A, +1	single nucleotide variant	Spinal muscular atrophy, distal, autosomal recessive, 5 [RCV000032899]	Chr2:2q32-34	pathogenic
NC_000002.11:g.(?_220150706)_(220290732_?)dup	duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000552669]	Chr2:219285984..219426010 [GRCh38] Chr2:220150706..220290732 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.-37+10G>C	single nucleotide variant	not specified [RCV000603070]	Chr2:219279528 [GRCh38] Chr2:220144250 [GRCh37] Chr2:2q35	likely benign
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	copy number gain	See cases [RCV000051119]	Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	copy number loss	See cases [RCV000052634]	Chr2:219081620..225430308 [GRCh38] Chr2:219946342..226295024 [GRCh37] Chr2:219654586..226003268 [NCBI36] Chr2:2q35-36.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	copy number gain	See cases [RCV000052959]	Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|See cases [RCV000052960]	Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]\|See cases [RCV000052964]	Chr2:212614422..227121230 [GRCh38] Chr2:213479146..227985946 [GRCh37] Chr2:213187391..227694190 [NCBI36] Chr2:2q34-36.3	pathogenic
NM_006736.6(DNAJB2):c.66-14C>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173851]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001657788]\|not provided [RCV004708010]\|not specified [RCV000124747]	Chr2:219280564 [GRCh38] Chr2:220145286 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.230-10G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173852]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001510941]\|not provided [RCV004708011]\|not specified [RCV000124748]	Chr2:219281929 [GRCh38] Chr2:220146651 [GRCh37] Chr2:2q35	benign
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3	copy number gain	See cases [RCV000138093]	Chr2:219081620..219758878 [GRCh38] Chr2:219946342..220623600 [GRCh37] Chr2:219654586..220331844 [NCBI36] Chr2:2q35	uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	copy number gain	See cases [RCV000139446]	Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	copy number gain	See cases [RCV000142307]	Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	copy number gain	See cases [RCV000143216]	Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3	pathogenic
NM_006736.6(DNAJB2):c.229+1G>A	single nucleotide variant	Autosomal recessive distal spinal muscular atrophy 2 [RCV003447120]\|Charcot-Marie-Tooth disease [RCV000192265]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000161908]	Chr2:219281772 [GRCh38] Chr2:220146494 [GRCh37] Chr2:2q35	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)	single nucleotide variant	Autosomal recessive distal spinal muscular atrophy 2 [RCV003447121]\|Charcot-Marie-Tooth disease [RCV000192266]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000161909]	Chr2:219279847 [GRCh38] Chr2:220144569 [GRCh37] Chr2:2q35	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter)	single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2T [RCV000191078]	Chr2:219282052 [GRCh38] Chr2:220146774 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.352+1G>A	single nucleotide variant	Autosomal recessive distal spinal muscular atrophy 2 [RCV003447123]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002051587]\|Charcot-Marie-Tooth disease [RCV000789088]\|DNAJB2-related disorder [RCV003407713]\|Inborn genetic diseases [RCV002453731]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000201941]\|not provided [RCV002243881]	Chr2:219282062 [GRCh38] Chr2:220146784 [GRCh37] Chr2:2q35	pathogenic\|uncertain significance
NM_006736.6(DNAJB2):c.230-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease type 2 [RCV001535597]\|Inborn genetic diseases [RCV002444871]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000545700]\|not provided [RCV000214459]	Chr2:219281937 [GRCh38] Chr2:220146659 [GRCh37] Chr2:2q35	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile)	single nucleotide variant	Inborn genetic diseases [RCV002338696]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001071485]\|not provided [RCV000222896]	Chr2:219283160 [GRCh38] Chr2:220147882 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.620-1G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000235055]	Chr2:219284631 [GRCh38] Chr2:220149353 [GRCh37] Chr2:2q35	pathogenic\|likely pathogenic
NM_006736.6(DNAJB2):c.310del (p.Arg104fs)	deletion	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000235093]	Chr2:219282018 [GRCh38] Chr2:220146740 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000694868]\|not provided [RCV000235962]	Chr2:219284676 [GRCh38] Chr2:220149398 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000535294]\|not provided [RCV000236241]	Chr2:219282020 [GRCh38] Chr2:220146742 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001301665]\|not provided [RCV000236338]	Chr2:219284773 [GRCh38] Chr2:220149495 [GRCh37] Chr2:2q35	pathogenic\|uncertain significance
NM_001039550.2(DNAJB2):c.0_229+18del	deletion	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000240840]	Chr2:219277937..219281788 [GRCh38] Chr2:220142659..220146510 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001082793]\|not provided [RCV004708179]\|not specified [RCV000376806]	Chr2:219284820 [GRCh38] Chr2:220149542 [GRCh37] Chr2:2q35	benign
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	copy number loss	not provided [RCV000585275]	Chr2:217374144..227643620 [GRCh37] Chr2:2q35-36.3	likely pathogenic
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000548716]	Chr2:219284742 [GRCh38] Chr2:220149464 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp)	single nucleotide variant	Inborn genetic diseases [RCV002350360]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000560181]\|not provided [RCV004791564]	Chr2:219283441 [GRCh38] Chr2:220148163 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.200G>A (p.Arg67His)	single nucleotide variant	not specified [RCV000413678]	Chr2:219281742 [GRCh38] Chr2:220146464 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173847]\|Inborn genetic diseases [RCV002393047]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001480871]\|not specified [RCV000445064]	Chr2:219284771 [GRCh38] Chr2:220149493 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.-23C>T	single nucleotide variant	not provided [RCV004711068]\|not specified [RCV000428059]	Chr2:219279811 [GRCh38] Chr2:220144533 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.353-12T>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002522710]\|not specified [RCV000425027]	Chr2:219282825 [GRCh38] Chr2:220147547 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173848]\|Inborn genetic diseases [RCV002411291]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000558757]\|not provided [RCV003430980]\|not specified [RCV000425078]	Chr2:219284799 [GRCh38] Chr2:220149521 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173149]\|DNAJB2-related disorder [RCV003912612]\|Inborn genetic diseases [RCV002418248]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000530812]\|not provided [RCV001705566]	Chr2:219281737 [GRCh38] Chr2:220146459 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.-37+20T>G	single nucleotide variant	not provided [RCV004710015]\|not specified [RCV000433053]	Chr2:219279538 [GRCh38] Chr2:220144260 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.-36-11C>G	single nucleotide variant	not specified [RCV000426884]	Chr2:219279787 [GRCh38] Chr2:220144509 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001851077]\|not provided [RCV000441063]	Chr2:219283231 [GRCh38] Chr2:220147953 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.176-17C>G	single nucleotide variant	not specified [RCV000444658]	Chr2:219281701 [GRCh38] Chr2:220146423 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3	copy number gain	See cases [RCV000448049]	Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001304668]\|not provided [RCV000481552]	Chr2:219281953 [GRCh38] Chr2:220146675 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.620-22_620-20del	deletion	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535765]\|not specified [RCV000481890]	Chr2:219284610..219284612 [GRCh38] Chr2:220149332..220149334 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.66-21_66-19del	microsatellite	not specified [RCV000485898]	Chr2:219280554..219280556 [GRCh38] Chr2:220145276..220145278 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2q35(chr2:219275536-220266647)x3	copy number gain	See cases [RCV000511655]	Chr2:219275536..220266647 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173846]\|DNAJB2-related disorder [RCV003915411]\|Inborn genetic diseases [RCV002376939]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000533802]\|not provided [RCV001577640]\|not specified [RCV000506671]	Chr2:219284715 [GRCh38] Chr2:220149437 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000804435]\|not provided [RCV000493193]	Chr2:219280585 [GRCh38] Chr2:220145307 [GRCh37] Chr2:2q35	pathogenic\|uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	copy number gain	See cases [RCV000512009]	Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173840]\|DNAJB2-related disorder [RCV004752946]\|Inborn genetic diseases [RCV002438470]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000556833]\|not provided [RCV001683582]	Chr2:219282007 [GRCh38] Chr2:220146729 [GRCh37] Chr2:2q35	benign\|likely benign
NM_006736.6(DNAJB2):c.717C>A (p.Thr239=)	single nucleotide variant	Inborn genetic diseases [RCV002377255]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000877656]\|not provided [RCV001704747]	Chr2:219284729 [GRCh38] Chr2:220149451 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.147G>A (p.Val49=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001439487]	Chr2:219280659 [GRCh38] Chr2:220145381 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650585]	Chr2:219281726 [GRCh38] Chr2:220146448 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001446146]	Chr2:219284842 [GRCh38] Chr2:220149564 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173150]\|Inborn genetic diseases [RCV002424524]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650587]	Chr2:219281958 [GRCh38] Chr2:220146680 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.445+8C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650589]	Chr2:219282937 [GRCh38] Chr2:220147659 [GRCh37] Chr2:2q35	likely pathogenic\|likely benign
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650584]\|not provided [RCV001756090]	Chr2:219281768 [GRCh38] Chr2:220146490 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000650583]	Chr2:219281954 [GRCh38] Chr2:220146676 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.-35C>G	single nucleotide variant	not specified [RCV000599666]	Chr2:219279799 [GRCh38] Chr2:220144521 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.66-4G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000937183]\|not provided [RCV001698430]	Chr2:219280574 [GRCh38] Chr2:220145296 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	copy number gain	not provided [RCV000682170]	Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000687943]	Chr2:219282870 [GRCh38] Chr2:220147592 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000706807]	Chr2:219279898 [GRCh38] Chr2:220144620 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn)	single nucleotide variant	Inborn genetic diseases [RCV002422575]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000701834]\|not provided [RCV002245608]	Chr2:219281738 [GRCh38] Chr2:220146460 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000690337]	Chr2:219283216 [GRCh38] Chr2:220147938 [GRCh37] Chr2:2q35	uncertain significance
NC_000002.11:g.(?_219135239)_(220290732_?)del	deletion	Desmin-related myofibrillar myopathy [RCV000707774]	Chr2:219135239..220290732 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000688800]	Chr2:219283235 [GRCh38] Chr2:220147957 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000705830]	Chr2:219280583 [GRCh38] Chr2:220145305 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173146]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000695748]	Chr2:219283180 [GRCh38] Chr2:220147902 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del)	deletion	Inborn genetic diseases [RCV002422553]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000699265]	Chr2:219281738..219281746 [GRCh38] Chr2:220146460..220146468 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000703730]	Chr2:219283211 [GRCh38] Chr2:220147933 [GRCh37] Chr2:2q35	uncertain significance
Single allele	deletion	Polydactyly [RCV000736029]	Chr2:219925666..220914504 [GRCh37] Chr2:2q35	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_006736.6(DNAJB2):c.446-46TCT[2]	microsatellite	not provided [RCV001567687]	Chr2:219283087..219283089 [GRCh38] Chr2:220147809..220147811 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_006736.6(DNAJB2):c.619+69C>T	single nucleotide variant	not provided [RCV001546660]	Chr2:219283558 [GRCh38] Chr2:220148280 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.446-2A>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000761527]	Chr2:219283131 [GRCh38] Chr2:220147853 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.*78C>G	single nucleotide variant	not provided [RCV001586227]	Chr2:219285065 [GRCh38] Chr2:220149787 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.549-4A>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001455965]	Chr2:219283415 [GRCh38] Chr2:220148137 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.705G>A (p.Gln235=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001458666]	Chr2:219284717 [GRCh38] Chr2:220149439 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.548+7G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001440014]	Chr2:219283242 [GRCh38] Chr2:220147964 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173145]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001062107]	Chr2:219280601 [GRCh38] Chr2:220145323 [GRCh37] Chr2:2q35	pathogenic\|uncertain significance
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001036092]	Chr2:219279876 [GRCh38] Chr2:220144598 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.548+5G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001060962]	Chr2:219283240 [GRCh38] Chr2:220147962 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.303G>A (p.Glu101=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001455947]	Chr2:219282012 [GRCh38] Chr2:220146734 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.297C>T (p.Pro99=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001493146]	Chr2:219282006 [GRCh38] Chr2:220146728 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.446-9C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000872210]	Chr2:219283124 [GRCh38] Chr2:220147846 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.352+8G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000876190]	Chr2:219282069 [GRCh38] Chr2:220146791 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000797545]\|not provided [RCV004693273]	Chr2:219284769 [GRCh38] Chr2:220149491 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del)	microsatellite	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000797598]	Chr2:219282892..219282894 [GRCh38] Chr2:220147614..220147616 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His)	single nucleotide variant	Inborn genetic diseases [RCV002388466]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000799389]	Chr2:219284766 [GRCh38] Chr2:220149488 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.176-38C>T	single nucleotide variant	not provided [RCV000833323]	Chr2:219281680 [GRCh38] Chr2:219281680..219281681 [GRCh38] Chr2:220146402 [GRCh37] Chr2:220146402..220146403 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.446-88C>T	single nucleotide variant	not provided [RCV000834825]	Chr2:219283045 [GRCh38] Chr2:220147767 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.175+2T>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000808455]\|not provided [RCV004792498]	Chr2:219280689 [GRCh38] Chr2:220145411 [GRCh37] Chr2:2q35	pathogenic\|likely pathogenic
NM_006736.6(DNAJB2):c.352+325G>T	single nucleotide variant	not provided [RCV000830881]	Chr2:219282386 [GRCh38] Chr2:220147108 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173147]\|Inborn genetic diseases [RCV002370121]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000802258]	Chr2:219284686 [GRCh38] Chr2:220149408 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000818692]	Chr2:219281732 [GRCh38] Chr2:220146454 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.175+228A>G	single nucleotide variant	not provided [RCV000831790]	Chr2:219280915 [GRCh38] Chr2:220145637 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.-36-110G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001664477]\|not provided [RCV000840551]	Chr2:219279688 [GRCh38] Chr2:220144410 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.176-244G>T	single nucleotide variant	not provided [RCV000840552]	Chr2:219281474 [GRCh38] Chr2:220146196 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.445+81C>T	single nucleotide variant	not provided [RCV000840553]	Chr2:219283010 [GRCh38] Chr2:220147732 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000811830]	Chr2:219283425 [GRCh38] Chr2:220148147 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001045615]	Chr2:219281741 [GRCh38] Chr2:220146463 [GRCh37] Chr2:2q35	uncertain significance
Single allele	duplication	Neurodevelopmental disorder [RCV000787403]	Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2	pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	copy number gain	See cases [RCV000790568]	Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3	pathogenic
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000814010]	Chr2:219282032 [GRCh38] Chr2:220146754 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.446-4C>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001475610]	Chr2:219283129 [GRCh38] Chr2:220147851 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser)	single nucleotide variant	Inborn genetic diseases [RCV002415949]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000824121]\|not provided [RCV004792543]	Chr2:219281741 [GRCh38] Chr2:220146463 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001045259]	Chr2:219281745 [GRCh38] Chr2:220146467 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q35(chr2:219879593-220346596)x3	copy number gain	not provided [RCV000847670]	Chr2:219879593..220346596 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.729C>T (p.Cys243=)	single nucleotide variant	not provided [RCV000915083]	Chr2:219284741 [GRCh38] Chr2:220149463 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.353-9T>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173842]	Chr2:219282828 [GRCh38] Chr2:220147550 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001248719]	Chr2:219284670 [GRCh38] Chr2:220149392 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn)	single nucleotide variant	Inborn genetic diseases [RCV004030652]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001067496]	Chr2:219281993 [GRCh38] Chr2:220146715 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001224627]	Chr2:219280580 [GRCh38] Chr2:220145302 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001243073]	Chr2:219283136 [GRCh38] Chr2:220147858 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001207303]	Chr2:219283181 [GRCh38] Chr2:220147903 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001201854]	Chr2:219284671 [GRCh38] Chr2:220149393 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001095531]	Chr2:219284769 [GRCh38] Chr2:220149491 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.352+36T>G	single nucleotide variant	not provided [RCV001569122]	Chr2:219282097 [GRCh38] Chr2:220146819 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.-37+75C>T	single nucleotide variant	not provided [RCV001548545]	Chr2:219279593 [GRCh38] Chr2:220144315 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*1272G>C	single nucleotide variant	not provided [RCV001567501]	Chr2:219286259 [GRCh38] Chr2:220150981 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.176-296T>C	single nucleotide variant	not provided [RCV001550729]	Chr2:219281422 [GRCh38] Chr2:220146144 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*1072G>A	single nucleotide variant	not provided [RCV001682396]	Chr2:219286059 [GRCh38] Chr2:220150781 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.*1267C>T	single nucleotide variant	not provided [RCV001609853]	Chr2:219286254 [GRCh38] Chr2:220150976 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.-36-92T>C	single nucleotide variant	not provided [RCV001552837]	Chr2:219279706 [GRCh38] Chr2:220144428 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.176-292T>A	single nucleotide variant	not provided [RCV001547780]	Chr2:219281426 [GRCh38] Chr2:220146148 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.675G>A (p.Pro225=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000951703]	Chr2:219284687 [GRCh38] Chr2:220149409 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+10G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000903865]	Chr2:219280697 [GRCh38] Chr2:220145419 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.420C>T (p.Phe140=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001499753]	Chr2:219282904 [GRCh38] Chr2:220147626 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.549-9C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002540136]	Chr2:219283410 [GRCh38] Chr2:220148132 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.208C>A (p.Arg70=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001242054]	Chr2:219281750 [GRCh38] Chr2:220146472 [GRCh37] Chr2:2q35	likely benign\|uncertain significance
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001238888]	Chr2:219283163 [GRCh38] Chr2:220147885 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001214562]	Chr2:219280582 [GRCh38] Chr2:220145304 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro)	single nucleotide variant	Inborn genetic diseases [RCV002339580]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001219397]	Chr2:219283141 [GRCh38] Chr2:220147863 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001066553]	Chr2:219281738 [GRCh38] Chr2:220146460 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp)	single nucleotide variant	Inborn genetic diseases [RCV002416357]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001043357]	Chr2:219281750 [GRCh38] Chr2:220146472 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001234594]	Chr2:219281954 [GRCh38] Chr2:220146676 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.175+247C>T	single nucleotide variant	not provided [RCV001576771]	Chr2:219280934 [GRCh38] Chr2:220145656 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3	copy number gain	not provided [RCV001007510]	Chr2:216883237..220953003 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.-34C>A	single nucleotide variant	not provided [RCV001722864]	Chr2:219279800 [GRCh38] Chr2:220144522 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.230-51dup	duplication	not provided [RCV001597904]	Chr2:219281887..219281888 [GRCh38] Chr2:220146609..220146610 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173148]	Chr2:219284880 [GRCh38] Chr2:220149602 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173849]\|not provided [RCV003883568]	Chr2:219284978 [GRCh38] Chr2:220149700 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*17G>T	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173850]\|not provided [RCV001562334]	Chr2:219285004 [GRCh38] Chr2:220149726 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*1021G>A	single nucleotide variant	not provided [RCV001582208]	Chr2:219286008 [GRCh38] Chr2:220150730 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001060296]	Chr2:219284675 [GRCh38] Chr2:220149397 [GRCh37] Chr2:2q35	likely benign\|uncertain significance
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001235806]	Chr2:219283217 [GRCh38] Chr2:220147939 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001218836]	Chr2:219281741 [GRCh38] Chr2:220146463 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001237222]	Chr2:219282008 [GRCh38] Chr2:220146730 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001054047]	Chr2:219284841 [GRCh38] Chr2:220149563 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173839]	Chr2:219281973 [GRCh38] Chr2:220146695 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.352+20C>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173841]	Chr2:219282081 [GRCh38] Chr2:220146803 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.620-19G>A	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173845]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650612]	Chr2:219284613 [GRCh38] Chr2:220149335 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173843]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001873621]	Chr2:219282928 [GRCh38] Chr2:220147650 [GRCh37] Chr2:2q35	likely benign\|uncertain significance
NM_006736.6(DNAJB2):c.446-17C>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV001173844]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002068095]	Chr2:219283116 [GRCh38] Chr2:220147838 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.446-3C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001218396]	Chr2:219283130 [GRCh38] Chr2:220147852 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001035259]	Chr2:219282054 [GRCh38] Chr2:220146776 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001072057]	Chr2:219282878 [GRCh38] Chr2:220147600 [GRCh37] Chr2:2q35	pathogenic
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	copy number loss	not provided [RCV001537914]	Chr2:220056891..227164817 [GRCh37] Chr2:2q35-36.3	pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	copy number loss	not provided [RCV001259180]	Chr2:215122019..220397907 [GRCh37] Chr2:2q34-35	likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	copy number gain	See cases [RCV001263052]	Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3	pathogenic
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001340022]	Chr2:219283225 [GRCh38] Chr2:220147947 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001319902]	Chr2:219284837 [GRCh38] Chr2:220149559 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001346002]\|not provided [RCV004793447]	Chr2:219282890 [GRCh38] Chr2:220147612 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001367626]	Chr2:219280682 [GRCh38] Chr2:220145404 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001342505]	Chr2:219280668 [GRCh38] Chr2:220145390 [GRCh37] Chr2:2q35	likely benign\|uncertain significance
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val)	single nucleotide variant	Inborn genetic diseases [RCV004619646]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001341467]	Chr2:219283156 [GRCh38] Chr2:220147878 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001373138]	Chr2:219281718 [GRCh38] Chr2:220146440 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.233C>G (p.Thr78Ser)	single nucleotide variant	not provided [RCV001311988]	Chr2:219281942 [GRCh38] Chr2:220146664 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001367296]	Chr2:219281751 [GRCh38] Chr2:220146473 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001365630]	Chr2:219284787 [GRCh38] Chr2:220149509 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001317550]	Chr2:219282895 [GRCh38] Chr2:220147617 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001416787]	Chr2:219284768 [GRCh38] Chr2:220149490 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001435684]	Chr2:219282895 [GRCh38] Chr2:220147617 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.708C>T (p.Val236=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001492413]	Chr2:219284720 [GRCh38] Chr2:220149442 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001454511]	Chr2:219279860 [GRCh38] Chr2:220144582 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.352+179C>T	single nucleotide variant	not provided [RCV001537159]	Chr2:219282240 [GRCh38] Chr2:220146962 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*990C>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001448647]	Chr2:219285977 [GRCh38] Chr2:220150699 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.438G>C (p.Gly146=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001408181]	Chr2:219282922 [GRCh38] Chr2:220147644 [GRCh37] Chr2:2q35	likely benign
NC_000002.12:g.219279325C>A	single nucleotide variant	not provided [RCV001610179]	Chr2:219279325 [GRCh38] Chr2:220144047 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001499878]	Chr2:219281758 [GRCh38] Chr2:220146480 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+9C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001431422]	Chr2:219280696 [GRCh38] Chr2:220145418 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.429C>T (p.Ser143=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001436355]	Chr2:219282913 [GRCh38] Chr2:220147635 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001450332]	Chr2:219283458 [GRCh38] Chr2:220148180 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.360G>A (p.Leu120=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001472360]	Chr2:219282844 [GRCh38] Chr2:220147566 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.445G>A (p.Asp149Asn)	single nucleotide variant	not provided [RCV001767076]	Chr2:219282929 [GRCh38] Chr2:220147651 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001803656]	Chr2:219281942 [GRCh38] Chr2:220146664 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002009284]	Chr2:219284754 [GRCh38] Chr2:220149476 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001891719]	Chr2:219281974 [GRCh38] Chr2:220146696 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001863320]	Chr2:219281998 [GRCh38] Chr2:220146720 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001928791]\|not provided [RCV004693972]	Chr2:219284637 [GRCh38] Chr2:220149359 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys)	single nucleotide variant	Inborn genetic diseases [RCV002608052]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001988778]\|not provided [RCV003327550]	Chr2:219283142 [GRCh38] Chr2:220147864 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	copy number loss	not specified [RCV002053285]	Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His)	single nucleotide variant	Inborn genetic diseases [RCV002343965]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001892615]	Chr2:219283220 [GRCh38] Chr2:220147942 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001970235]	Chr2:219281999 [GRCh38] Chr2:220146721 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001872301]	Chr2:219284817 [GRCh38] Chr2:220149539 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001871348]	Chr2:219283453 [GRCh38] Chr2:220148175 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	copy number gain	not specified [RCV002053282]	Chr2:215108009..221679980 [GRCh37] Chr2:2q34-36.1	pathogenic
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001979913]	Chr2:219284634 [GRCh38] Chr2:220149356 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)	microsatellite	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001941373]	Chr2:219280629..219280630 [GRCh38] Chr2:220145351..220145352 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001888053]	Chr2:219284751 [GRCh38] Chr2:220149473 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002027342]	Chr2:219282852 [GRCh38] Chr2:220147574 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002049832]	Chr2:219283207 [GRCh38] Chr2:220147929 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001999715]	Chr2:219281746 [GRCh38] Chr2:220146468 [GRCh37] Chr2:2q35	pathogenic
NC_000002.11:g.(?_218999525)_(220435954_?)dup	duplication	Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]\|Paroxysmal nonkinesigenic dyskinesia [RCV001962531]	Chr2:218999525..220435954 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001934015]	Chr2:219280586 [GRCh38] Chr2:220145308 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001991839]	Chr2:219279874 [GRCh38] Chr2:220144596 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001878120]	Chr2:219281729 [GRCh38] Chr2:220146451 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001884938]	Chr2:219283196 [GRCh38] Chr2:220147918 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001977558]	Chr2:219283429 [GRCh38] Chr2:220148151 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup)	duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002033837]	Chr2:219284646..219284647 [GRCh38] Chr2:220149368..220149369 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001870091]	Chr2:219284839 [GRCh38] Chr2:220149561 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002017708]	Chr2:219279837 [GRCh38] Chr2:220144559 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.446-1G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001956956]	Chr2:219283132 [GRCh38] Chr2:220147854 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001878592]	Chr2:219282046 [GRCh38] Chr2:220146768 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.561C>T (p.Asn187=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002091372]	Chr2:219283431 [GRCh38] Chr2:220148153 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002074929]	Chr2:219282910 [GRCh38] Chr2:220147632 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.63G>A (p.Lys21=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002165821]	Chr2:219279896 [GRCh38] Chr2:220144618 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.548+14C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002089965]	Chr2:219283249 [GRCh38] Chr2:220147971 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.723C>T (p.Ala241=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002128129]	Chr2:219284735 [GRCh38] Chr2:220149457 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.353-4G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002172617]	Chr2:219282833 [GRCh38] Chr2:220147555 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.229+9A>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002197291]	Chr2:219281780 [GRCh38] Chr2:220146502 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+13G>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002125391]	Chr2:219280700 [GRCh38] Chr2:220145422 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+9C>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002077529]	Chr2:219280696 [GRCh38] Chr2:220145418 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*981G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002126732]	Chr2:219285968 [GRCh38] Chr2:220150690 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.65+15A>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002092730]	Chr2:219279913 [GRCh38] Chr2:220144635 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.*980C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002179389]	Chr2:219285967 [GRCh38] Chr2:220150689 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002219880]\|not provided [RCV003438932]	Chr2:219284795 [GRCh38] Chr2:220149517 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.230-15A>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002155313]	Chr2:219281924 [GRCh38] Chr2:220146646 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.441C>T (p.His147=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002181509]	Chr2:219282925 [GRCh38] Chr2:220147647 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.693T>G (p.Ser231=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002120633]	Chr2:219284705 [GRCh38] Chr2:220149427 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.237C>T (p.Gly79=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002104130]	Chr2:219281946 [GRCh38] Chr2:220146668 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.229+8G>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002118791]	Chr2:219281779 [GRCh38] Chr2:220146501 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.445+9T>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002204236]	Chr2:219282938 [GRCh38] Chr2:220147660 [GRCh37] Chr2:2q35	likely benign
NC_000002.11:g.(?_220144556)_(220150719_?)dup	duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003122373]	Chr2:220144556..220150719 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.847C>T (p.Arg283Trp)	single nucleotide variant	not provided [RCV002263255]	Chr2:219284859 [GRCh38] Chr2:220149581 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.65+1G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002290280]	Chr2:219279899 [GRCh38] Chr2:220144621 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.662G>A (p.Arg221His)	single nucleotide variant	Inborn genetic diseases [RCV002366737]	Chr2:219284674 [GRCh38] Chr2:220149396 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.283A>G (p.Thr95Ala)	single nucleotide variant	Inborn genetic diseases [RCV002435219]	Chr2:219281992 [GRCh38] Chr2:220146714 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.670C>G (p.Gln224Glu)	single nucleotide variant	Inborn genetic diseases [RCV002367193]	Chr2:219284682 [GRCh38] Chr2:220149404 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.905G>T (p.Gly302Val)	single nucleotide variant	not provided [RCV002293042]	Chr2:219284917 [GRCh38] Chr2:220149639 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)	single nucleotide variant	Inborn genetic diseases [RCV002367234]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003098344]	Chr2:219284683 [GRCh38] Chr2:220149405 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.389G>C (p.Gly130Ala)	single nucleotide variant	Inborn genetic diseases [RCV002366393]	Chr2:219282873 [GRCh38] Chr2:220147595 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003011915]	Chr2:219284632 [GRCh38] Chr2:220149354 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.353-24_357del	deletion	Inborn genetic diseases [RCV002459423]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005096307]	Chr2:219282805..219282833 [GRCh38] Chr2:220147527..220147555 [GRCh37] Chr2:2q35	likely pathogenic\|uncertain significance
NM_006736.6(DNAJB2):c.229+2T>A	single nucleotide variant	Inborn genetic diseases [RCV002446221]	Chr2:219281773 [GRCh38] Chr2:220146495 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.64G>C (p.Ala22Pro)	single nucleotide variant	Inborn genetic diseases [RCV002364134]	Chr2:219279897 [GRCh38] Chr2:220144619 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.629A>G (p.Asp210Gly)	single nucleotide variant	Inborn genetic diseases [RCV002353943]	Chr2:219284641 [GRCh38] Chr2:220149363 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.*995C>T	single nucleotide variant	Inborn genetic diseases [RCV002412545]	Chr2:219285982 [GRCh38] Chr2:220150704 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.649G>C (p.Glu217Gln)	single nucleotide variant	Inborn genetic diseases [RCV002364122]	Chr2:219284661 [GRCh38] Chr2:220149383 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.548+4A>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003073563]	Chr2:219283239 [GRCh38] Chr2:220147961 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.645C>T (p.Gly215=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002866010]	Chr2:219284657 [GRCh38] Chr2:220149379 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.445+17C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002908485]	Chr2:219282946 [GRCh38] Chr2:220147668 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.66-16C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003098981]	Chr2:219280562 [GRCh38] Chr2:220145284 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.459A>C (p.Ser153=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002882199]	Chr2:219283146 [GRCh38] Chr2:220147868 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002903707]	Chr2:219284851 [GRCh38] Chr2:220149573 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.154G>A (p.Ala52Thr)	single nucleotide variant	not provided [RCV002481199]	Chr2:219280666 [GRCh38] Chr2:220145388 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002912554]	Chr2:219284832 [GRCh38] Chr2:220149554 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.369C>T (p.Phe123=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003078351]	Chr2:219282853 [GRCh38] Chr2:220147575 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003081412]	Chr2:219279854 [GRCh38] Chr2:220144576 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.66-11A>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002620448]	Chr2:219280567 [GRCh38] Chr2:220145289 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.554T>C (p.Met185Thr)	single nucleotide variant	Inborn genetic diseases [RCV002783758]	Chr2:219283424 [GRCh38] Chr2:220148146 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.548+19G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003079615]	Chr2:219283254 [GRCh38] Chr2:220147976 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003002013]	Chr2:219284653 [GRCh38] Chr2:220149375 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.445+11C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003053251]	Chr2:219282940 [GRCh38] Chr2:220147662 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002571696]	Chr2:219280630 [GRCh38] Chr2:220145352 [GRCh37] Chr2:2q35	pathogenic
NM_006736.6(DNAJB2):c.405C>T (p.Gly135=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002574582]	Chr2:219282889 [GRCh38] Chr2:220147611 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002643066]	Chr2:219279850 [GRCh38] Chr2:220144572 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003023307]	Chr2:219282057 [GRCh38] Chr2:220146779 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.619+16C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002801068]	Chr2:219283505 [GRCh38] Chr2:220148227 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.619+8G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002985464]	Chr2:219283497 [GRCh38] Chr2:220148219 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*988C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002790500]	Chr2:219285975 [GRCh38] Chr2:220150697 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003058840]	Chr2:219283442 [GRCh38] Chr2:220148164 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.640C>T (p.Leu214=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002711065]	Chr2:219284652 [GRCh38] Chr2:220149374 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.582G>A (p.Val194=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002710058]	Chr2:219283452 [GRCh38] Chr2:220148174 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.66-18T>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002790828]	Chr2:219280560 [GRCh38] Chr2:220145282 [GRCh37] Chr2:2q35	benign
NM_006736.6(DNAJB2):c.819C>T (p.Pro273=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003009091]	Chr2:219284831 [GRCh38] Chr2:220149553 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.65+10T>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002598769]	Chr2:219279908 [GRCh38] Chr2:220144630 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003027869]	Chr2:219284762 [GRCh38] Chr2:220149484 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+11G>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002937218]	Chr2:219280698 [GRCh38] Chr2:220145420 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003028284]	Chr2:219281945 [GRCh38] Chr2:220146667 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.363C>G (p.Gly121=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002899871]	Chr2:219282847 [GRCh38] Chr2:220147569 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002721832]	Chr2:219282873 [GRCh38] Chr2:220147595 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002609592]	Chr2:219281760 [GRCh38] Chr2:220146482 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.176-10_176-9del	microsatellite	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV002606181]	Chr2:219281705..219281706 [GRCh38] Chr2:220146427..220146428 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003155535]	Chr2:219280611 [GRCh38] Chr2:220145333 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.65+1G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV004788450]	Chr2:219279899 [GRCh38] Chr2:220144621 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.65+5G>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003146756]	Chr2:219279903 [GRCh38] Chr2:220144625 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	copy number gain	See cases [RCV003329558]	Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1	pathogenic
NM_006736.6(DNAJB2):c.620-6T>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003875083]	Chr2:219284626 [GRCh38] Chr2:220149348 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.888G>C (p.Leu296Phe)	single nucleotide variant	not provided [RCV003440179]	Chr2:219284900 [GRCh38] Chr2:220149622 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	copy number gain	not provided [RCV003484087]	Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_006736.6(DNAJB2):c.175+1G>C	single nucleotide variant	DNAJB2-related disorder [RCV003412413]	Chr2:219280688 [GRCh38] Chr2:220145410 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651745]	Chr2:219280608 [GRCh38] Chr2:220145330 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.230-4C>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653994]	Chr2:219281935 [GRCh38] Chr2:220146657 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651799]	Chr2:219279866 [GRCh38] Chr2:220144588 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.353-1G>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651121]	Chr2:219282836 [GRCh38] Chr2:220147558 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650077]	Chr2:219283432 [GRCh38] Chr2:220148154 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.639A>G (p.Ala213=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003652379]	Chr2:219284651 [GRCh38] Chr2:220149373 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650303]	Chr2:219281968 [GRCh38] Chr2:220146690 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.741C>T (p.Ser247=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003651436]	Chr2:219284753 [GRCh38] Chr2:220149475 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+19C>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653060]	Chr2:219280706 [GRCh38] Chr2:220145428 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.548+13T>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003650114]	Chr2:219283248 [GRCh38] Chr2:220147970 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003653176]	Chr2:219284940 [GRCh38] Chr2:220149662 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.176-20G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535542]	Chr2:219281698 [GRCh38] Chr2:220146420 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.445+1G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536105]	Chr2:219282930 [GRCh38] Chr2:220147652 [GRCh37] Chr2:2q35	likely pathogenic
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003537764]	Chr2:219283186 [GRCh38] Chr2:220147908 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.230-19C>G	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003539082]	Chr2:219281920 [GRCh38] Chr2:220146642 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003535320]	Chr2:219281745 [GRCh38] Chr2:220146467 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003538976]	Chr2:219282917 [GRCh38] Chr2:220147639 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.65+12C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536405]	Chr2:219279910 [GRCh38] Chr2:220144632 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003851335]	Chr2:219282909 [GRCh38] Chr2:220147631 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.168G>C (p.Leu56=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536783]	Chr2:219280680 [GRCh38] Chr2:220145402 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003536270]	Chr2:219280584 [GRCh38] Chr2:220145306 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.366C>T (p.Pro122=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003843185]	Chr2:219282850 [GRCh38] Chr2:220147572 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003818906]	Chr2:219282892 [GRCh38] Chr2:220147614 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.507A>C (p.Thr169=)	single nucleotide variant	DNAJB2-related disorder [RCV003956594]\|Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV003822148]	Chr2:219283194 [GRCh38] Chr2:220147916 [GRCh37] Chr2:2q35	likely benign
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	copy number gain	See cases [RCV004442836]	Chr2:216815496..242782258 [GRCh37] Chr2:2q35-37.3	pathogenic
NM_006736.6(DNAJB2):c.929G>A (p.Arg310His)	single nucleotide variant	DNAJB2-related disorder [RCV003909447]	Chr2:219284941 [GRCh38] Chr2:220149663 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.633C>T (p.Asp211=)	single nucleotide variant	DNAJB2-related disorder [RCV004730352]	Chr2:219284645 [GRCh38] Chr2:220149367 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.395G>A (p.Arg132Gln)	single nucleotide variant	Inborn genetic diseases [RCV004974316]	Chr2:219282879 [GRCh38] Chr2:220147601 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.782A>G (p.Tyr261Cys)	single nucleotide variant	Inborn genetic diseases [RCV004974315]	Chr2:219284794 [GRCh38] Chr2:220149516 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.717C>T (p.Thr239=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005105695]	Chr2:219284729 [GRCh38] Chr2:220149451 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.720T>C (p.Pro240=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005146531]	Chr2:219284732 [GRCh38] Chr2:220149454 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.548+13T>C	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005065765]	Chr2:219283248 [GRCh38] Chr2:220147970 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.*995C>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005206437]	Chr2:219285982 [GRCh38] Chr2:220150704 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.375G>A (p.Glu125=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005155137]	Chr2:219282859 [GRCh38] Chr2:220147581 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.65+9C>T	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005081100]	Chr2:219279907 [GRCh38] Chr2:220144629 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.324G>C (p.Gly108=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005198744]	Chr2:219282033 [GRCh38] Chr2:220146755 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.65+7G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005081840]	Chr2:219279905 [GRCh38] Chr2:220144627 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.165G>A (p.Val55=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005148283]	Chr2:219280677 [GRCh38] Chr2:220145399 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.15C>T (p.Tyr5=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005117787]	Chr2:219279848 [GRCh38] Chr2:220144570 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.767A>T (p.Gln256Leu)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005193609]	Chr2:219284779 [GRCh38] Chr2:220149501 [GRCh37] Chr2:2q35	uncertain significance
NM_006736.6(DNAJB2):c.453C>T (p.Ser151=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005149643]	Chr2:219283140 [GRCh38] Chr2:220147862 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.175+17G>A	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005184062]	Chr2:219280704 [GRCh38] Chr2:220145426 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.423T>C (p.Ser141=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005153440]	Chr2:219282907 [GRCh38] Chr2:220147629 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.648G>A (p.Leu216=)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV005072934]	Chr2:219284660 [GRCh38] Chr2:220149382 [GRCh37] Chr2:2q35	likely benign
NM_006736.6(DNAJB2):c.326G>T (p.Ser109Ile)	single nucleotide variant	Inborn genetic diseases [RCV003199086]	Chr2:219282035 [GRCh38] Chr2:220146757 [GRCh37] Chr2:2q35	uncertain significance
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	copy number loss	not provided [RCV000682163]	Chr2:218813434..227450699 [GRCh37] Chr2:2q35-36.3	pathogenic
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp)	single nucleotide variant	Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV001391764]\|not provided [RCV004792571]	Chr2:219282869 [GRCh38] Chr2:220147591 [GRCh37] Chr2:2q35	likely benign\|uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	6297
Count of miRNA genes:	1149
Interacting mature miRNAs:	1505
Transcripts:	ENST00000336576, ENST00000392086, ENST00000392087, ENST00000421532, ENST00000425450, ENST00000439026, ENST00000442681, ENST00000463463, ENST00000470530, ENST00000472019, ENST00000473750, ENST00000476254, ENST00000477917, ENST00000480537, ENST00000481815, ENST00000482988, ENST00000485220, ENST00000487855
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2293458	PRSTS291_H	Prostate tumor susceptibility QTL 291 (human)		0.012	Prostate tumor susceptibility		2	200715236	226715236	Human
1643053	BW117_H	Body Weight QTL 117 (human)	2.4	0.00044	Body weight		2	200715236	226715236	Human
597355487	GWAS1451561_H	self reported educational attainment QTL GWAS1451561 (human)		0.000005	self reported educational attainment		2	219281680	219281681	Human
2289332	BW376_H	Body weight QTL 376 (human)	1.87	0.00168	Body fat amount	abdominal	2	213765566	239765566	Human
597373350	GWAS1469424_H	body mass index QTL GWAS1469424 (human)		9e-09	body mass index	body mass index (BMI) (CMO:0000105)	2	219286259	219286260	Human
1643254	BW125_H	Body Weight QTL 125 (human)	1.45	0.005	Body weight	body mass index	2	200715236	226715236	Human

G67373

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	220,149,560 - 220,149,709	UniSTS	GRCh37
Build 36	2	219,857,804 - 219,857,953	RGD	NCBI36
Celera	2	213,919,263 - 213,919,412	RGD
Cytogenetic Map	2	q32-q34	UniSTS
HuRef	2	212,002,646 - 212,002,795	UniSTS

Cda0vf12

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	220,151,392 - 220,151,559	UniSTS	GRCh37
Build 36	2	219,859,636 - 219,859,803	RGD	NCBI36
Celera	2	213,921,095 - 213,921,262	RGD
Cytogenetic Map	2	q32-q34	UniSTS
HuRef	2	212,004,478 - 212,004,645	UniSTS
GeneMap99-GB4 RH Map	2	682.52	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1950	465	2270	7305	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_029553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001039550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC114803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL547521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011609	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF795662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM689272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007088	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX420085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX478051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA392563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S37374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S37375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X63368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000336576 ⟹ ENSP00000338019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,366 - 219,286,895 (+)	Ensembl

Ensembl Acc Id:

ENST00000392086 ⟹ ENSP00000375936

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,344 - 219,286,898 (+)	Ensembl

Ensembl Acc Id:

ENST00000392087 ⟹ ENSP00000375937

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,465 - 219,284,838 (+)	Ensembl

Ensembl Acc Id:

ENST00000421532 ⟹ ENSP00000395173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,366 - 219,282,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000425450 ⟹ ENSP00000414796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,342 - 219,284,696 (+)	Ensembl

Ensembl Acc Id:

ENST00000439026 ⟹ ENSP00000387951

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,517 - 219,282,929 (+)	Ensembl

Ensembl Acc Id:

ENST00000442681 ⟹ ENSP00000392790

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,516 - 219,282,852 (+)	Ensembl

Ensembl Acc Id:

ENST00000463463

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,920 - 219,284,828 (+)	Ensembl

Ensembl Acc Id:

ENST00000470530

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,285,263 - 219,286,200 (+)	Ensembl

Ensembl Acc Id:

ENST00000472019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,282,742 - 219,286,839 (+)	Ensembl

Ensembl Acc Id:

ENST00000473750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,282,698 - 219,285,196 (+)	Ensembl

Ensembl Acc Id:

ENST00000476254

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,283,064 - 219,284,874 (+)	Ensembl

Ensembl Acc Id:

ENST00000477917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,367 - 219,286,895 (+)	Ensembl

Ensembl Acc Id:

ENST00000480537

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,367 - 219,282,660 (+)	Ensembl

Ensembl Acc Id:

ENST00000481815

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,588 - 219,280,693 (+)	Ensembl

Ensembl Acc Id:

ENST00000482988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,369 - 219,280,170 (+)	Ensembl

Ensembl Acc Id:

ENST00000485220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,906 - 219,281,373 (+)	Ensembl

Ensembl Acc Id:

ENST00000487855

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,280,613 - 219,282,665 (+)	Ensembl

Ensembl Acc Id:

ENST00000683651

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,280,840 - 219,282,705 (+)	Ensembl

Ensembl Acc Id:

ENST00000684599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	219,279,348 - 219,286,873 (+)	Ensembl

RefSeq Acc Id:

NM_001039550 ⟹ NP_001034639

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	219,279,366 - 219,286,895 (+)	NCBI
GRCh37	2	220,144,040 - 220,151,622 (+)	ENTREZGENE
Build 36	2	219,852,284 - 219,859,866 (+)	NCBI Archive
HuRef	2	211,997,126 - 212,004,708 (+)	ENTREZGENE
CHM1_1	2	220,149,887 - 220,157,470 (+)	NCBI
T2T-CHM13v2.0	2	219,764,122 - 219,771,651 (+)	NCBI

Sequence:

show sequence

AGTAGTTTCCGCACCGCTGACGCATGCCTGCGCGCACAGCTGGGCCGGGCGCGTCCTACGCAGCAGCCGCGAGCCGGGCTGCGGGTGCCAGACGGTTCCCGGCGGGGGGCAGGGGCGGGGCGCCGCAG
GAGGCCGGGACTCCTGGCGGAGGAGCCCCAAGGAGGCCCGCCTGACGACTGACCAGTTGCCATGGCATCCTACTACGAGATCCTAGACGTGCCGCGAAGTGCGTCCGCTGATGACATCAAGAAGGCGT
ATCGGCGCAAGGCTCTCCAGTGGCACCCAGACAAAAACCCAGATAATAAAGAGTTTGCTGAGAAGAAATTTAAGGAGGTGGCCGAGGCATATGAAGTGCTGTCTGACAAGCACAAGCGGGAGATTTAC
GACCGCTATGGCCGGGAAGGGCTGACAGGGACAGGAACTGGCCCATCTCGGGCAGAAGCTGGCAGTGGTGGGCCTGGCTTCACCTTCACCTTCCGCAGCCCCGAGGAGGTCTTCCGGGAATTCTTTGG
GAGTGGAGACCCTTTTGCAGAGCTCTTTGATGACCTGGGCCCCTTCTCAGAGCTTCAGAACCGGGGTTCCCGACACTCAGGCCCCTTCTTTACCTTCTCTTCCTCCTTCCCTGGGCACTCCGATTTCT
CCTCCTCATCTTTCTCCTTCAGTCCTGGGGCTGGTGCTTTTCGCTCTGTTTCTACATCTACCACCTTTGTCCAAGGACGCCGCATCACCACACGCAGAATCATGGAGAACGGGCAGGAGCGGGTGGAA
GTGGAGGAGGATGGGCAGCTGAAGTCAGTCACAATCAATGGTGTCCCAGATGACCTGGCACTGGGCTTGGAGCTGAGCCGTCGCGAGCAGCAGCCGTCAGTCACTTCCAGGTCTGGGGGCACTCAGGT
CCAGCAGACCCCTGCCTCATGCCCCTTGGACAGCGACCTCTCTGAGGATGAGGACCTGCAGCTGGCCATGGCCTACAGCCTGTCAGAGATGGAGGCAGCTGGGAAGAAACCCGCAGATGTGTTCTGAG
CTGGATGCCGGGTTCCAGAATCGCTGCACAGTTCCAACAGGACAGCGCCTTCCCCCATGCGCTGGGAGGGGACCCTCCATTTCTCCCCCTCACCCATGCTGAGTGTAGAGCCGGGGCCTGGGTGGCGG
GTGGGGGCCGGGTGGGAGGTGGCAGTAGTCTTAGCCTGTGCACTCTCTTCCTTGGGTGTTTGGTGCTGGCTCCTGGGGACTACAAATCCCAGAGTGCGGTGTGCCCGGCCTCATTTCTGATAGATCCC
GCTTGGGGGAGGTGGTGTATGGTTACGGAGCTGTGCATCTTGGGACATGTAGTAGCCCAGGTCGGCTTGTCACTCGCTGTGAGATGGGGAGATTTTGTCTTTTGATTTATCCCTGTAGGGCTGGCAGG
GTTGTAGATGAAGGGGGAATGATCTGAGCCTTGGTTCCCCTGACACGTCTTGCTAGCCCCAGGGTTAGAGTGGGCAGGGCAGAGCCGCGCAGCACCTGGGAGCGGTACCTTTCCCTTGGGCAGCCTGG
GGTCCCAGGAACAAGCCAGGGCGAGTGGCATGTCTGCCTGAGCAGGGTGTGGCCCCAGAAAGCTGAGGAGTGTGGGCTGGCAGAGAGCTTCGAGGGCAAGGCCACCCGCGGGGGCGTGTGTGTGGTGG
GGCTTGGCATGTGATGGCAGCTCCAGGCATGCCGCTGCTTGTATGGCTTTCTTTGGCCTCTGACCCTGCTGCCCATTCTTTCCAACATCACAGATGAACTGCCTCTCCTCCTCCCTGCCTGGGGAGCC
CAGTGGCCAGGGAGGGGAGTGGTGGAGCCAGTCGCTGTAACACTGAGCCTCAGAGACGAACCAAAACCAGCTGGGCTGAGCTCAGATCCAGGGGGAAATGCTGGAAGTCAATAAAACTGAGTTTTGAG
A

hide sequence

RefSeq Acc Id:

NM_006736 ⟹ NP_006727

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	219,279,366 - 219,286,895 (+)	NCBI
GRCh37	2	220,144,040 - 220,151,622 (+)	ENTREZGENE
Build 36	2	219,852,284 - 219,859,866 (+)	NCBI Archive
HuRef	2	211,997,126 - 212,004,708 (+)	ENTREZGENE
CHM1_1	2	220,149,887 - 220,157,470 (+)	NCBI
T2T-CHM13v2.0	2	219,764,122 - 219,771,651 (+)	NCBI

Sequence:

show sequence

AGTAGTTTCCGCACCGCTGACGCATGCCTGCGCGCACAGCTGGGCCGGGCGCGTCCTACGCAGC
AGCCGCGAGCCGGGCTGCGGGTGCCAGACGGTTCCCGGCGGGGGGCAGGGGCGGGGCGCCGCAGGAGGCCGGGACTCCTGGCGGAGGAGCCCCAAGGAGGCCCGCCTGACGACTGACCAGTTGCCATG
GCATCCTACTACGAGATCCTAGACGTGCCGCGAAGTGCGTCCGCTGATGACATCAAGAAGGCGTATCGGCGCAAGGCTCTCCAGTGGCACCCAGACAAAAACCCAGATAATAAAGAGTTTGCTGAGAA
GAAATTTAAGGAGGTGGCCGAGGCATATGAAGTGCTGTCTGACAAGCACAAGCGGGAGATTTACGACCGCTATGGCCGGGAAGGGCTGACAGGGACAGGAACTGGCCCATCTCGGGCAGAAGCTGGCA
GTGGTGGGCCTGGCTTCACCTTCACCTTCCGCAGCCCCGAGGAGGTCTTCCGGGAATTCTTTGGGAGTGGAGACCCTTTTGCAGAGCTCTTTGATGACCTGGGCCCCTTCTCAGAGCTTCAGAACCGG
GGTTCCCGACACTCAGGCCCCTTCTTTACCTTCTCTTCCTCCTTCCCTGGGCACTCCGATTTCTCCTCCTCATCTTTCTCCTTCAGTCCTGGGGCTGGTGCTTTTCGCTCTGTTTCTACATCTACCAC
CTTTGTCCAAGGACGCCGCATCACCACACGCAGAATCATGGAGAACGGGCAGGAGCGGGTGGAAGTGGAGGAGGATGGGCAGCTGAAGTCAGTCACAATCAATGGTGTCCCAGATGACCTGGCACTGG
GCTTGGAGCTGAGCCGTCGCGAGCAGCAGCCGTCAGTCACTTCCAGGTCTGGGGGCACTCAGGTCCAGCAGACCCCTGCCTCATGCCCCTTGGACAGCGACCTCTCTGAGGATGAGGACCTGCAGCTG
GCCATGGCCTACAGCCTGTCAGAGATGGAGGCAGCTGGGAAGAAACCCGCAGGTGGGCGGGAGGCACAGCACCGACGGCAGGGGCGGCCCAAGGCCCAGCACCAAGATCCAGGCTTGGGGGGGACCCA
GGAGGGTGCGAGGGGTGAAGCAACCAAACGCAGTCCATCCCCAGAGGAGAAGGCCTCTCGCTGCCTCATCCTCTGAACACCGGGCCCAACCTGATCTGATCCAGATCTTGACTGGGGGGTCTGACTCA
CTGTGGGAAGAGAAGAGGGGAGTATCCTGAGTTGTAGGAACTGCTTTCCAACTCCAAGCTCCCTCCACAAGTTTCCCTCCCAGGCCCCCCACACCCCAGTGTGGACTTGGGATTTGCTGTGCTCAGCC
CAGGGCTGATAGGTCCCTGGTGAAGCCCAGGGTGGGGGGTGTCAGGGCAGTGGAGGGGCCCGAGGAGCCAGGTTGCATTTATTGGATGGGGAGCTCCAAGGGGCATTAGTGGTTTGGGCTGGGCCTTT
TGTGCCCTGGTACTCTGCCACCTGTGTTGCTGATGGTGTCAAGGAAGGAGGACTTGGCCTAGGGTTGTCTGAGCCGGAGCCGGCAGCTCCACTGGAGAGCAGTGCAGGCAGAGTGGAGCCTCCTGCTC
TCCTGGACCAGCTGCAGACCCCCAACCCTGGTTTCTGTGCCATGTTGCGCTCTGACCGTCTCTGTTGCTTCTCTTCTGGTGTTGCTTCTCCTCCCTCCCATTCTCTCTGCAACTCCCTGCGGGCCGCA
TCGCTTGCTTTCACTGCCGTCTGGCTAGGACTCCCTTCTTCCTTCCTTCCCCGAGAAGGCCTCAATGTGGCGAGGAAGATGCTGGGGCCGGTAGGGCTGTGAGATCTTCTGGGGAGGCTAGCCGGGTG
GGGCGGGAGCCTCTCAGCTGTCCAGATTCAGAACTGGAGCCCACTCCTCCTCCCTCTCGTTGCCTCAGCCTGCCCTCACCCTCAGGACTAGGCAGAGGTGAGGCTGGCTCACCCTGAAGAGGTGGGAT
AGGACCGGGGGACCCCAGAGGGAGGCCTAGGAGGGGACTGCACCCATACTGCTTCCCTACCACAAATCAGGGCTCAGGGAGAGGCCATGCGGCCAGCCCAGGTCTGCATGCTGAGCCCCATCCTCCAC
AGCTTGCCGCTGACGCTCTCTCCTGTCACCCCGCCCCTGCTCTCTCCCCAGATGTGTTCTGAGCTGGATGCCGGGTTCCAGAATCGCTGCACAGTTCCAACAGGACAGCGCCTTCCCCCATGCGCTGG
GAGGGGACCCTCCATTTCTCCCCCTCACCCATGCTGAGTGTAGAGCCGGGGCCTGGGTGGCGGGTGGGGGCCGGGTGGGAGGTGGCAGTAGTCTTAGCCTGTGCACTCTCTTCCTTGGGTGTTTGGTG
CTGGCTCCTGGGGACTACAAATCCCAGAGTGCGGTGTGCCCGGCCTCATTTCTGATAGATCCCGCTTGGGGGAGGTGGTGTATGGTTACGGAGCTGTGCATCTTGGGACATGTAGTAGCCCAGGTCGG
CTTGTCACTCGCTGTGAGATGGGGAGATTTTGTCTTTTGATTTATCCCTGTAGGGCTGGCAGGGTTGTAGATGAAGGGGGAATGATCTGAGCCTTGGTTCCCCTGACACGTCTTGCTAGCCCCAGGGT
TAGAGTGGGCAGGGCAGAGCCGCGCAGCACCTGGGAGCGGTACCTTTCCCTTGGGCAGCCTGGGGTCCCAGGAACAAGCCAGGGCGAGTGGCATGTCTGCCTGAGCAGGGTGTGGCCCCAGAAAGCTG
AGGAGTGTGGGCTGGCAGAGAGCTTCGAGGGCAAGGCCACCCGCGGGGGCGTGTGTGTGGTGGGGCTTGGCATGTGATGGCAGCTCCAGGCATGCCGCTGCTTGTATGGCTTTCTTTGGCCTCTGACC
CTGCTGCCCATTCTTTCCAACATCACAGATGAACTGCCTCTCCTCCTCCCTGCCTGGGGAGCCCAGTGGCCAGGGAGGGGAGTGGTGGAGCCAGTCGCTGTAACACTGAGCCTCAGAGACGAACCAAA
ACCAGCTGGGCTGAGCTCAGATCCAGGGGGAAATGCTGGAAGTCAATAAAACTGAGTTTTGAGA

hide sequence


Protein RefSeqs	NP_001034639	(Get FASTA)	NCBI Sequence Viewer
	NP_006727	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA09034	(Get FASTA)	NCBI Sequence Viewer
	AAA09035	(Get FASTA)	NCBI Sequence Viewer
	AAH11609	(Get FASTA)	NCBI Sequence Viewer
	AAH47056	(Get FASTA)	NCBI Sequence Viewer
	AAP35751	(Get FASTA)	NCBI Sequence Viewer
	AAY24037	(Get FASTA)	NCBI Sequence Viewer
	BAF82315	(Get FASTA)	NCBI Sequence Viewer
	BAF85450	(Get FASTA)	NCBI Sequence Viewer
	BAG35597	(Get FASTA)	NCBI Sequence Viewer
	BAG57277	(Get FASTA)	NCBI Sequence Viewer
	BAG58998	(Get FASTA)	NCBI Sequence Viewer
	CAA44968	(Get FASTA)	NCBI Sequence Viewer
	CAA44969	(Get FASTA)	NCBI Sequence Viewer
	EAW70722	(Get FASTA)	NCBI Sequence Viewer
	EAW70723	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000338019
	ENSP00000338019.5
	ENSP00000375936
	ENSP00000375936.4
GenBank Protein	P25686	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006727 ⟸ NM_006736
- Peptide Label:	isoform b
- UniProtKB:	Q8IUK2 (UniProtKB/Swiss-Prot), Q8IUK1 (UniProtKB/Swiss-Prot), Q53QD7 (UniProtKB/Swiss-Prot), A8K9P6 (UniProtKB/Swiss-Prot), Q96F52 (UniProtKB/Swiss-Prot), P25686 (UniProtKB/Swiss-Prot), A8K0R1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGREGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQN RGSRHSGPFFTFSSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPDDLALGLELSRREQQPSVTSRSGGTQVQQTPASCPLDSDLSEDEDLQ LAMAYSLSEMEAAGKKPAGGREAQHRRQGRPKAQHQDPGLGGTQEGARGEATKRSPSPEEKASRCLIL hide sequence

RefSeq Acc Id:	NP_001034639 ⟸ NM_001039550
- Peptide Label:	isoform a
- UniProtKB:	C9JXB9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGREGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQN RGSRHSGPFFTFSSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPDDLALGLELSRREQQPSVTSRSGGTQVQQTPASCPLDSDLSEDEDLQ LAMAYSLSEMEAAGKKPADVF hide sequence

Ensembl Acc Id:

ENSP00000414796 ⟸ ENST00000425450

Ensembl Acc Id:

ENSP00000387951 ⟸ ENST00000439026

Ensembl Acc Id:

ENSP00000338019 ⟸ ENST00000336576

Protein Domains

J UIM

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P25686-F1-model_v2	AlphaFold	P25686	1-324	view protein structure

RGD ID:

6862906

Promoter ID:

EPDNEW_H4618

Type:

initiation region

Name:

DNAJB2_1

Description:

DnaJ heat shock protein family member B2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	219,279,366 - 219,279,426	EPDNEW

RGD ID:

6797242

Promoter ID:

HG_KWN:37347

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000392087, NM_001039550, OTTHUMT00000256823, OTTHUMT00000335645, OTTHUMT00000335647, OTTHUMT00000335650, OTTHUMT00000335652, OTTHUMT00000335653, OTTHUMT00000335654, OTTHUMT00000335655, OTTHUMT00000335656, OTTHUMT00000335657, OTTHUMT00000335661

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	219,852,146 - 219,852,827 (+)	MPROMDB

RGD ID:

6797084

Promoter ID:

HG_KWN:37348

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000335658

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	219,853,561 - 219,854,061 (+)	MPROMDB

RGD ID:

6797083

Promoter ID:

HG_KWN:37349

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000335648, OTTHUMT00000335659, UC002VKY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	219,854,679 - 219,855,179 (+)	MPROMDB

RGD ID:

6797087

Promoter ID:

HG_KWN:37350

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000335660

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	219,857,771 - 219,858,512 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	DNAJB2	COSMIC
Ensembl Genes	ENSG00000135924	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000336576	ENTREZGENE
	ENST00000336576.10	UniProtKB/Swiss-Prot
	ENST00000392086	ENTREZGENE
	ENST00000392086.8	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.110	UniProtKB/Swiss-Prot
	6.10.140.100	UniProtKB/Swiss-Prot
GTEx	ENSG00000135924	GTEx
HGNC ID	HGNC:5228	ENTREZGENE
Human Proteome Map	DNAJB2	Human Proteome Map
InterPro	DnaJ_domain	UniProtKB/Swiss-Prot
	DnaJ_domain_CS	UniProtKB/Swiss-Prot
	DNJB2	UniProtKB/Swiss-Prot
	J_dom_sf	UniProtKB/Swiss-Prot
	UIM_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:3300	UniProtKB/Swiss-Prot
NCBI Gene	3300	ENTREZGENE
OMIM	604139	OMIM
PANTHER	DNAJ HOMOLOG SUBFAMILY B MEMBER 2	UniProtKB/Swiss-Prot
	PTHR45168	UniProtKB/Swiss-Prot
Pfam	DnaJ	UniProtKB/Swiss-Prot
PharmGKB	PA27415	PharmGKB
PRINTS	JDOMAIN	UniProtKB/Swiss-Prot
PROSITE	DNAJ_1	UniProtKB/Swiss-Prot
	DNAJ_2	UniProtKB/Swiss-Prot
	UIM	UniProtKB/Swiss-Prot
SMART	DnaJ	UniProtKB/Swiss-Prot
	UIM	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46565	UniProtKB/Swiss-Prot
UniProt	A8K0R1	ENTREZGENE, UniProtKB/TrEMBL
	A8K9P6	ENTREZGENE
	C9J1G2_HUMAN	UniProtKB/TrEMBL
	C9JRD2_HUMAN	UniProtKB/TrEMBL
	C9JX00_HUMAN	UniProtKB/TrEMBL
	C9JXB9	ENTREZGENE, UniProtKB/TrEMBL
	DNJB2_HUMAN	UniProtKB/Swiss-Prot
	E7ETU0_HUMAN	UniProtKB/TrEMBL
	P25686	ENTREZGENE
	Q53QD7	ENTREZGENE
	Q8IUK1	ENTREZGENE
	Q8IUK2	ENTREZGENE
	Q96F52	ENTREZGENE
UniProt Secondary	A8K9P6	UniProtKB/Swiss-Prot
	Q53QD7	UniProtKB/Swiss-Prot
	Q8IUK1	UniProtKB/Swiss-Prot
	Q8IUK2	UniProtKB/Swiss-Prot
	Q96F52	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	DNAJB2	DnaJ (Hsp40) homolog, subfamily B, member 2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar