DNAJB7 (DnaJ heat shock protein family (Hsp40) member B7)

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Gene: DNAJB7 (DnaJ heat shock protein family (Hsp40) member B7) Homo sapiens

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Symbol:

DNAJB7

Name:

DnaJ heat shock protein family (Hsp40) member B7

RGD ID:

1353448

HGNC Page

HGNC:24986

Description:

Enables protein-folding chaperone binding activity. Predicted to be involved in chaperone-mediated protein folding. Predicted to be active in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DJ5; DnaJ (Hsp40) homolog, subfamily B, member 7; dnaJ homolog subfamily B member 7; HSC3; MGC138340; novel DnaJ domain protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

DNAJB6P1 DNAJB6P5 DNAJB6P7 DNAJB6P8

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	22	40,859,549 - 40,862,113 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	40,859,549 - 40,862,113 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	41,255,553 - 41,258,117 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	39,585,499 - 39,588,076 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	39,580,052 - 39,582,630	NCBI
Celera	22	25,059,224 - 25,061,801 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,217,586 - 24,220,163 (-)	NCBI		HuRef
CHM1_1	22	41,214,305 - 41,216,882 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	41,331,741 - 41,334,305 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

kidney disease (IAGP)

Rubinstein-Taybi syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

4,4'-diaminodiphenylmethane (ISO)

8-Br-cAMP (EXP)

amiodarone (EXP)

bisphenol A (ISO)

CGP 52608 (EXP)

coumarin (EXP)

decabromodiphenyl ether (ISO)

diclofenac (ISO)

lidocaine (ISO)

Muraglitazar (ISO)

paracetamol (ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (EXP)

sunitinib (EXP)

tert-butyl hydroperoxide (EXP)

Tesaglitazar (ISO)

trichloroethene (ISO)

troglitazone (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chaperone-mediated protein folding (IBA,IEA)

Cellular Component

cytoplasm (IBA)

nucleus (IBA)

Molecular Function

Hsp70 protein binding (IEA)

protein folding chaperone (IBA)

protein-folding chaperone binding (IBA,IPI)

unfolded protein binding (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Nephropathy (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:10591208	PMID:11147971	PMID:15461802	PMID:15489334	PMID:18029348	PMID:21231916	PMID:21244100	PMID:21873635	PMID:32122920	PMID:32780723	PMID:33536335	PMID:33957083
PMID:33961781

Genomics

Comparative Map Data

DNAJB7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	40,859,549 - 40,862,113 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	40,859,549 - 40,862,113 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	41,255,553 - 41,258,117 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	39,585,499 - 39,588,076 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	39,580,052 - 39,582,630	NCBI
Celera	22	25,059,224 - 25,061,801 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,217,586 - 24,220,163 (-)	NCBI		HuRef
CHM1_1	22	41,214,305 - 41,216,882 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	41,331,741 - 41,334,305 (-)	NCBI		T2T-CHM13v2.0

Dnajb7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	81,291,289 - 81,292,474 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	81,291,127 - 81,292,500 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	81,407,088 - 81,408,273 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	81,406,926 - 81,408,299 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	81,237,518 - 81,238,703 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	81,234,343 - 81,235,528 (-)	NCBI		MGSCv36	mm8
Celera	15	83,525,125 - 83,526,310 (-)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	38.09	NCBI

Dnajb7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	114,812,886 - 114,814,200 (-)	NCBI		GRCr8
mRatBN7.2	7	112,932,736 - 112,934,050 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	112,932,616 - 112,945,537 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	114,695,085 - 114,696,399 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	116,918,586 - 116,919,900 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	116,887,995 - 116,889,309 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	122,642,740 - 122,644,054 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	122,642,740 - 122,644,054 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	122,619,286 - 122,620,600 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	119,735,945 - 119,737,259 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	109,252,184 - 109,253,498 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Dnajb7
(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_004955413	26,511,834 - 26,512,849 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	26,510,844 - 26,512,855 (-)	NCBI	ChiLan1.0	ChiLan1.0

DNAJB7
(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	23	50,681,614 - 50,692,770 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	53,391,456 - 53,392,656 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	21,754,641 - 21,757,204 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	39,850,575 - 39,853,799 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	39,852,079 - 39,853,008 (-)	Ensembl	panpan1.1		panPan2

DNAJB7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	24,372,364 - 24,373,715 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	24,372,507 - 24,373,436 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	24,305,603 - 24,307,665 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	25,119,157 - 25,121,219 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	10	24,834,405 - 24,836,467 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	25,155,295 - 25,157,357 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	25,329,675 - 25,331,737 (+)	NCBI		UU_Cfam_GSD_1.0

Dnajb7
(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_024404945	7,960,172 - 7,961,323 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936492	970,645 - 972,294 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DNAJB7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	5	7,574,729 - 7,576,224 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	4,751,120 - 4,756,419 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DNAJB7
(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	19	23,406,249 - 23,407,805 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666045	102,154,908 - 102,156,876 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in DNAJB7
34 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	copy number gain	See cases [RCV000050897]	Chr22:40860894..41306006 [GRCh38] Chr22:41256898..41702010 [GRCh37] Chr22:39586844..40031956 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1	copy number loss	See cases [RCV000051369]	Chr22:40832364..41076954 [GRCh38] Chr22:41228368..41472958 [GRCh37] Chr22:39558314..39802904 [NCBI36] Chr22:22q13.2	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	copy number gain	See cases [RCV000051685]	Chr22:37721797..40860953 [GRCh38] Chr22:38117804..41256957 [GRCh37] Chr22:36447750..39586903 [NCBI36] Chr22:22q13.1-13.2	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	copy number gain	See cases [RCV000134514]	Chr22:40769910..41360090 [GRCh38] Chr22:41165914..41756094 [GRCh37] Chr22:39495860..40086040 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2(chr22:40732506-40892856)x3	copy number gain	See cases [RCV000135853]	Chr22:40732506..40892856 [GRCh38] Chr22:41128510..41288860 [GRCh37] Chr22:39458456..39618806 [NCBI36] Chr22:22q13.2	benign
GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3	copy number gain	See cases [RCV000137666]	Chr22:40431454..40934348 [GRCh38] Chr22:40827458..41330352 [GRCh37] Chr22:39157404..39660298 [NCBI36] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41223048-41278147)x3	copy number gain	See cases [RCV000447587]	Chr22:41223048..41278147 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3	copy number gain	See cases [RCV000448955]	Chr22:40233644..41655673 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_145174.2(DNAJB7):c.246T>G (p.Asp82Glu)	single nucleotide variant	not specified [RCV004302440]	Chr22:40861749 [GRCh38] Chr22:41257753 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_41074407)_(41489122_?)del	deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV003107398]	Chr22:41074407..41489122 [GRCh37] Chr22:22q13.2	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	copy number gain	not provided [RCV001007190]	Chr22:40665986..41370008 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
NM_022098.4(XPNPEP3):c.64+4586dup	duplication	Kidney disorder [RCV002294619]	Chr22:40861830..40861831 [GRCh38] Chr22:41257834..41257835 [GRCh37] Chr22:22q13.2	benign
GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	copy number loss	not provided [RCV002473952]	Chr22:40131240..41556564 [GRCh37] Chr22:22q13.1-13.2	pathogenic
NM_145174.2(DNAJB7):c.920G>A (p.Arg307Lys)	single nucleotide variant	not specified [RCV004159081]	Chr22:40861075 [GRCh38] Chr22:41257079 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.297A>C (p.Glu99Asp)	single nucleotide variant	not specified [RCV004103066]	Chr22:40861698 [GRCh38] Chr22:41257702 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.123A>T (p.Glu41Asp)	single nucleotide variant	not specified [RCV004228842]	Chr22:40861872 [GRCh38] Chr22:41257876 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.250T>C (p.Cys84Arg)	single nucleotide variant	not specified [RCV004218962]	Chr22:40861745 [GRCh38] Chr22:41257749 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.5T>A (p.Val2Glu)	single nucleotide variant	not specified [RCV004237473]	Chr22:40861990 [GRCh38] Chr22:41257994 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.542T>C (p.Met181Thr)	single nucleotide variant	not specified [RCV004161583]	Chr22:40861453 [GRCh38] Chr22:41257457 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	copy number gain	not provided [RCV002475709]	Chr22:39768795..41946225 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
NM_145174.2(DNAJB7):c.149C>G (p.Ala50Gly)	single nucleotide variant	not specified [RCV004119493]	Chr22:40861846 [GRCh38] Chr22:41257850 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.841A>G (p.Ile281Val)	single nucleotide variant	not specified [RCV004161611]	Chr22:40861154 [GRCh38] Chr22:41257158 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.19G>A (p.Val7Ile)	single nucleotide variant	not specified [RCV004206644]	Chr22:40861976 [GRCh38] Chr22:41257980 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.35G>A (p.Arg12Lys)	single nucleotide variant	not specified [RCV004125455]	Chr22:40861960 [GRCh38] Chr22:41257964 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.442G>C (p.Glu148Gln)	single nucleotide variant	not specified [RCV004141385]	Chr22:40861553 [GRCh38] Chr22:41257557 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.283G>T (p.Asp95Tyr)	single nucleotide variant	not specified [RCV004126247]	Chr22:40861712 [GRCh38] Chr22:41257716 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.51G>C (p.Glu17Asp)	single nucleotide variant	not specified [RCV004182769]	Chr22:40861944 [GRCh38] Chr22:41257948 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.197A>G (p.Asp66Gly)	single nucleotide variant	not specified [RCV004090525]	Chr22:40861798 [GRCh38] Chr22:41257802 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.114T>G (p.Asn38Lys)	single nucleotide variant	not specified [RCV004221866]	Chr22:40861881 [GRCh38] Chr22:41257885 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.368C>T (p.Pro123Leu)	single nucleotide variant	not specified [RCV004254243]	Chr22:40861627 [GRCh38] Chr22:41257631 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.600T>A (p.Asn200Lys)	single nucleotide variant	not specified [RCV004266663]	Chr22:40861395 [GRCh38] Chr22:41257399 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.496G>A (p.Glu166Lys)	single nucleotide variant	not specified [RCV004263254]	Chr22:40861499 [GRCh38] Chr22:41257503 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.490G>C (p.Gly164Arg)	single nucleotide variant	not specified [RCV004312374]	Chr22:40861505 [GRCh38] Chr22:41257509 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.877A>G (p.Lys293Glu)	single nucleotide variant	not specified [RCV004350718]	Chr22:40861118 [GRCh38] Chr22:41257122 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.160G>A (p.Glu54Lys)	single nucleotide variant	not specified [RCV004348622]	Chr22:40861835 [GRCh38] Chr22:41257839 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	copy number gain	Syndromic craniosynostosis [RCV003481509]	Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2	likely pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	copy number loss	not specified [RCV003986188]	Chr22:39935185..41752098 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	copy number gain	not specified [RCV003986179]	Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31	pathogenic
NM_145174.2(DNAJB7):c.14A>G (p.Tyr5Cys)	single nucleotide variant	not specified [RCV004379283]	Chr22:40861981 [GRCh38] Chr22:41257985 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.365G>A (p.Arg122His)	single nucleotide variant	not specified [RCV004379288]	Chr22:40861630 [GRCh38] Chr22:41257634 [GRCh37] Chr22:22q13.2	likely benign
NM_145174.2(DNAJB7):c.410T>G (p.Phe137Cys)	single nucleotide variant	not specified [RCV004379289]	Chr22:40861585 [GRCh38] Chr22:41257589 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.806G>A (p.Gly269Asp)	single nucleotide variant	not specified [RCV004379294]	Chr22:40861189 [GRCh38] Chr22:41257193 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.308A>C (p.Glu103Ala)	single nucleotide variant	not specified [RCV004379287]	Chr22:40861687 [GRCh38] Chr22:41257691 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.890G>A (p.Arg297His)	single nucleotide variant	not specified [RCV004379296]	Chr22:40861105 [GRCh38] Chr22:41257109 [GRCh37] Chr22:22q13.2	likely benign
NM_145174.2(DNAJB7):c.275A>C (p.Lys92Thr)	single nucleotide variant	not specified [RCV004379286]	Chr22:40861720 [GRCh38] Chr22:41257724 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.926G>C (p.Cys309Ser)	single nucleotide variant	not specified [RCV004379297]	Chr22:40861069 [GRCh38] Chr22:41257073 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.556T>C (p.Ser186Pro)	single nucleotide variant	not specified [RCV004379290]	Chr22:40861439 [GRCh38] Chr22:41257443 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.869G>A (p.Gly290Asp)	single nucleotide variant	not specified [RCV004379295]	Chr22:40861126 [GRCh38] Chr22:41257130 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.661T>G (p.Phe221Val)	single nucleotide variant	not specified [RCV004379292]	Chr22:40861334 [GRCh38] Chr22:41257338 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.688G>A (p.Glu230Lys)	single nucleotide variant	not specified [RCV004379293]	Chr22:40861307 [GRCh38] Chr22:41257311 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.185G>A (p.Arg62Gln)	single nucleotide variant	not specified [RCV004622156]	Chr22:40861810 [GRCh38] Chr22:41257814 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_39306081)_(41904073_?)dup	duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118]	Chr22:39306081..41904073 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
NM_145174.2(DNAJB7):c.364C>G (p.Arg122Gly)	single nucleotide variant	not specified [RCV004622155]	Chr22:40861631 [GRCh38] Chr22:41257635 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.239T>C (p.Phe80Ser)	single nucleotide variant	not specified [RCV004622158]	Chr22:40861756 [GRCh38] Chr22:41257760 [GRCh37] Chr22:22q13.2	uncertain significance
NM_145174.2(DNAJB7):c.643G>T (p.Asp215Tyr)	single nucleotide variant	not specified [RCV004622157]	Chr22:40861352 [GRCh38] Chr22:41257356 [GRCh37] Chr22:22q13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	828
Count of miRNA genes:	449
Interacting mature miRNAs:	503
Transcripts:	ENST00000307221
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407407334	GWAS1056310_H	bipolar disorder QTL GWAS1056310 (human)		7e-09	bipolar disorder		22	40860798	40860799	Human

Markers in Region

WI-11646

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	41,258,628 - 41,258,737	UniSTS	GRCh37
Build 36	22	39,588,574 - 39,588,683	RGD	NCBI36
Celera	22	25,062,299 - 25,062,408	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	24,220,661 - 24,220,770	UniSTS
GeneMap99-GB4 RH Map	22	127.37	UniSTS
Whitehead-RH Map	22	153.5	UniSTS
NCBI RH Map	22	181.9	UniSTS

UniSTS:484407

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	41,257,009 - 41,258,077	UniSTS	GRCh37
Celera	22	25,060,680 - 25,061,748	UniSTS
HuRef	22	24,219,042 - 24,220,110	UniSTS

Expression

RNA-SEQ Expression

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	renal system	reproductive system	respiratory system	sensory system
1186	2356	2733	2019	4708	1611	2121	2	530	1426	367	2194	6289	5662	14	3527	762	1666	1490	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_028221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_145174	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF085232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z98048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000307221 ⟹ ENSP00000307197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	40,859,549 - 40,862,113 (-)	Ensembl

RefSeq Acc Id:

NM_145174 ⟹ NP_660157

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	40,859,549 - 40,862,113 (-)	NCBI
GRCh37	22	41,255,553 - 41,258,130 (-)	RGD
Build 36	22	39,585,499 - 39,588,076 (-)	NCBI Archive
Celera	22	25,059,224 - 25,061,801 (-)	RGD
HuRef	22	24,217,586 - 24,220,163 (-)	RGD
CHM1_1	22	41,214,305 - 41,216,882 (-)	NCBI
T2T-CHM13v2.0	22	41,331,741 - 41,334,305 (-)	NCBI

Sequence:

show sequence

AACATAAAAGTGTACCTATTTGCAGTCACTACCTCTATCACCACCACCAGCAGAGCCTGAGCTG
AGGAAACCACGGTTCTCAATACCCAGCACACCCACTTCCAACTATCTGTTAAAACATGGTGGAT
TACTATGAAGTTCTAGGACTGCAAAGATATGCTTCACCTGAGGACATTAAAAAAGCTTATCATA
AAGTGGCACTTAAATGGCACCCTGATAAAAATCCAGAAAATAAAGAAGAAGCAGAGAGAAAATT
CAAAGAAGTAGCTGAGGCATACGAGGTATTATCAAATGATGAGAAACGGGACATTTATGATAAA
TATGGCACAGAAGGATTAAACGGAGGTGGAAGTCATTTTGATGATGAATGTGAGTACGGCTTCA
CATTCCATAAGCCAGATGATGTTTTTAAAGAAATTTTTCATGAAAGGGATCCATTTTCTTTTCA
CTTCTTTGAAGACTCGCTTGAGGACCTGTTAAATCGTCCAGGAAGCTCCTATGGAAACAGAAAC
AGAGATGCAGGATACTTTTTCTCCACTGCCAGTGAATATCCAATTTTTGAGAAATTTTCTTCAT
ATGATACAGGATATACATCACAGGGTTCATTGGGGCATGAAGGCCTTACTTCTTTCTCTTCCCT
GGCTTTTGATAATAGTGGGATGGACAACTACATATCTGTTACAACTTCAGACAAAATCGTTAAT
GGCAGAAATATTAATACAAAGAAAATTATTGAAAGTGATCAAGAAAGAGAAGCTGAAGATAATG
GAGAGTTGACATTTTTTCTTGTAAATAGTGTGGCCAATGAAGAGGGCTTTGCAAAAGAATGCAG
CTGGAGAACACAGTCATTCAACAACTATTCACCAAATTCTCACAGCTCCAAACATGTATCTCAA
TATACTTTCGTGGACAATGATGAGGGAGGTATATCTTGGGTTACCAGCAACAGAGATCCCCCTA
TTTTCTCAGCAGGAGTCAAAGAGGGTGGTAAGAGGAAAAAAAAGAAGCGTAAAGAGGTGCAAAA
GAAGTCTACCAAAAGGAATTGTTAAATTGACTCTTCAAATATATAACATTTGAACACAATTGTG
TGTGTTTTGGTTAATCACAAATTTTGTAGATAACACTTAATACTATACTAAGAGCTTTTCAACA
CTTTTAGCAGGATTGTGGACATTTGGTTAGTAGTTTTTTTGAATGGGTATGTCAGAAAAGGATG
AGTTTGTGGTGACAGTTGGTGCTAATAAGAATTTGCCTGGGCAGTATAGTGAGATCTTTTCTCT
ACAAAAAATTTAAAAATTAGCCAAGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAAG
CTGGTAGAAAGACTGCTTGAGCCTGGAAGACATAGGTTGCAGTGTAATGGGATCACGCCACTGC
ACTCCAGCTTGGGTGACAAAGTAAGACCCTGTCTTAAAAAAAAAAAAAAGGAATTTGGAAAACT
GCAATGAGTTTTTTACTTTTGAATTTTTCTTTAGTAGAGTTTATAGCCTATTTTTCTTTTTTCT
AATTAAAACCACTATACAAACTTACGAAACATGCATAGCATTAGAAGACAAGAATGTATCAAGA
CACACAGGTTCAGACTACACAATTATTCATGAAATGGCTGTTTTCCAATGGAGGAACAGCATTT
GATGCATTATAACTTAAAGGTACTACAAATTAAAAATTAAAGTATAAAGTATTTTAAGTTAGAA
ATAGACTTAGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCATCTTGGGAGGCCCAGGCAGG
AGGGTTGAAGTCAGAATTTCACGACAGTCCGGGTAACATAATGAGACCTGTCCTCTATGAAAAA
ACTTTTTTAAAAATTTAGCTGGGTGTGGTGGTACGTGCCTGTAGGCCTAGCTACTTAGGAGGCT
GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGTAGGGAGCTATGATCTTGCCATTGC
ACTCCAGCTGAGAGTGTGACCCTGTCTCTAAAGAAAAACTATAGAAAATTTAAAAAATTAAAAA
ACGGGTAACATGGTAAATTTTATGTAGTATATTTTACCACATTTTTTTTAAAGGCCAGTCTTAT
CCTGAATTCCTCAGAGCAGTCTGTATGGTAGGCCATCAGTGAATCACTCCAGACAGGAAATTTT
CTATTTTTGTTTAGAGTTTGTACACAAAATCTACAAATACATTACTCTAAAATAGCACCTATAG
CCATTTTAATTTAGTCATGTTGGGAGAAAAATAGATGGGTTACAAATACATCAGATATCGAGCA
AATGGTTTGAGTTACATCTAGCAGCACTAAAACTTATTCAACTTTGGCCAAATACAAATGCGAA
ATTAGAAAAAAATTATAATATCTGCTATTTTTAAAAGACAGCTATAGTCAAGAGCTTGTGTTTT
GTATCGGTATTTGATTTTTAGTGGGCAGATGGGAGAAGGAAAGGTTATTTATTCTATAGAAGAG
ACTGCGGACAATTAGTATTCAAAGTTTATTTTCAGAAAATAAAATAATAAAAGCCCAGGGTATT
TTAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_660157	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI12136	(Get FASTA)	NCBI Sequence Viewer
	AAL40391	(Get FASTA)	NCBI Sequence Viewer
	CAG30354	(Get FASTA)	NCBI Sequence Viewer
	EAW60401	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000307197
	ENSP00000307197.4
GenBank Protein	Q7Z6W7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_660157 ⟸ NM_145174

- UniProtKB:

Q5H904 (UniProtKB/Swiss-Prot), Q2M220 (UniProtKB/Swiss-Prot), Q8WYJ7 (UniProtKB/Swiss-Prot), Q7Z6W7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MVDYYEVLGLQRYASPEDIKKAYHKVALKWHPDKNPENKEEAERKFKEVAEAYEVLSNDEKRDI
YDKYGTEGLNGGGSHFDDECEYGFTFHKPDDVFKEIFHERDPFSFHFFEDSLEDLLNRPGSSYG
NRNRDAGYFFSTASEYPIFEKFSSYDTGYTSQGSLGHEGLTSFSSLAFDNSGMDNYISVTTSDK
IVNGRNINTKKIIESDQEREAEDNGELTFFLVNSVANEEGFAKECSWRTQSFNNYSPNSHSSKH
VSQYTFVDNDEGGISWVTSNRDPPIFSAGVKEGGKRKKKKRKEVQKKSTKRNC

hide sequence

Ensembl Acc Id:

ENSP00000307197 ⟸ ENST00000307221

Protein Domains

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7Z6W7-F1-model_v2	AlphaFold	Q7Z6W7	1-309	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24986	AgrOrtholog
COSMIC	DNAJB7	COSMIC
Ensembl Genes	ENSG00000172404	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000307221	ENTREZGENE
	ENST00000307221.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.110	UniProtKB/Swiss-Prot
GTEx	ENSG00000172404	GTEx
HGNC ID	HGNC:24986	ENTREZGENE
Human Proteome Map	DNAJB7	Human Proteome Map
InterPro	DnaJ_domain	UniProtKB/Swiss-Prot
	DnaJ_domain_CS	UniProtKB/Swiss-Prot
	DNJB2/6-like	UniProtKB/Swiss-Prot
	J_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:150353	UniProtKB/Swiss-Prot
NCBI Gene	150353	ENTREZGENE
OMIM	611336	OMIM
PANTHER	DNAJ HOMOLOG SUBFAMILY B MEMBER 2	UniProtKB/Swiss-Prot
	SIMILAR TO DNAJ HOMOLOG SUBFAMILY B MEMBER 6 (HEAT SHOCK PROTEIN J2) (HSJ-2) (MRJ) (MDJ4)	UniProtKB/Swiss-Prot
Pfam	DnaJ	UniProtKB/Swiss-Prot
PharmGKB	PA134961522	PharmGKB
PRINTS	JDOMAIN	UniProtKB/Swiss-Prot
PROSITE	DNAJ_1	UniProtKB/Swiss-Prot
	DNAJ_2	UniProtKB/Swiss-Prot
SMART	DnaJ	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46565	UniProtKB/Swiss-Prot
UniProt	DNJB7_HUMAN	UniProtKB/Swiss-Prot
	Q2M220	ENTREZGENE
	Q5H904	ENTREZGENE
	Q7Z6W7	ENTREZGENE
	Q8WYJ7	ENTREZGENE
UniProt Secondary	Q2M220	UniProtKB/Swiss-Prot
	Q5H904	UniProtKB/Swiss-Prot
	Q8WYJ7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	DNAJB7	DnaJ heat shock protein family (Hsp40) member B7		DnaJ (Hsp40) homolog, subfamily B, member 7	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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