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Gene: BOLA2 (bolA family member 2) Homo sapiens

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Symbol:

BOLA2

Name:

bolA family member 2

RGD ID:

1605757

HGNC Page

HGNC:29488

Description:

Predicted to enable iron-sulfur cluster binding activity. Involved in [2Fe-2S] cluster assembly; cell redox homeostasis; and intracellular iron ion homeostasis. Located in cytoplasm and nucleus. Part of iron-sulfur cluster assembly complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

bolA homolog 2; bolA-like 2; BolA-like protein 2; BolA-like protein 2 member A; BOLA2A; BOLA2B; My016

RGD Orthologs

Mouse

Rat

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Bola2 (bolA family member 2)	RGD	RGD
Rattus norvegicus (Norway rat):	Bola2 (bolA family member 2)	RGD	RGD
Alliance orthologs ³
Mus musculus (house mouse):	Bola2 (bolA family member 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Bola2 (bolA family member 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zgc:112271	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	BOL2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	CG33672	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	T12D8.10	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	bola2.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

BOLA2P1 BOLA2P2 BOLA2P3

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	16	29,453,588 - 29,454,964 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	29,453,590 - 29,454,351 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	16	30,192,932 - 30,194,306 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	29,464,909 - 29,466,285 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	29,362,071 - 29,373,786 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	27,866,894 - 27,868,265 (-)	NCBI		HuRef
CHM1_1	16	30,476,743 - 30,478,114 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	29,735,379 - 29,736,755 (-)	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)
BOLA2	Human	autism spectrum disorder		IAGP	RGD:11050290	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:18184952\|PMID:25255310
BOLA2	Human	autistic disorder		IAGP	RGD:14351735	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
BOLA2	Human	chromosome 16p11.2 deletion syndrome, 593-kb		IAGP	RGD:38457763	8554872	ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome	ClinVar
BOLA2	Human	coronin-1A deficiency		IAGP	RGD:12839792	8554872	ClinVar Annotator: match by term: Immunodeficiency 8	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532
BOLA2	Human	dilated cardiomyopathy		IAGP	RGD:405877738	8554872	ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BOLA2	Human	17alpha-ethynylestradiol	affects expression	ISO	RGD:1320647	6480464	Ethinyl Estradiol affects the expression of BOLA2 mRNA	CTD	PMID:17555576
BOLA2	Human	17beta-estradiol	decreases expression	ISO	RGD:1565363	6480464	Estradiol results in decreased expression of BOLA2 mRNA	CTD	PMID:32145629
BOLA2	Human	17beta-estradiol	increases expression	ISO	RGD:1320647	6480464	Estradiol results in increased expression of BOLA2 mRNA	CTD	PMID:39298647
BOLA2	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	RGD:1320647	6480464	2,2',4,4'-tetrabromodiphenyl ether affects the expression of BOLA2 mRNA	CTD	PMID:30294300
BOLA2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1320647	6480464	Tetrachlorodibenzodioxin affects the expression of BOLA2 mRNA	CTD	PMID:21570461\|PMID:24680724
BOLA2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1565363	6480464	Tetrachlorodibenzodioxin results in increased expression of BOLA2 mRNA	CTD	PMID:33387578
BOLA2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1565363	6480464	Tetrachlorodibenzodioxin results in decreased expression of BOLA2 mRNA	CTD	PMID:32109520
BOLA2	Human	2,3,7,8-Tetrachlorodibenzofuran	decreases expression	ISO	RGD:1565363	6480464	2,3,7,8-tetrachlorodibenzofuran results in decreased expression of BOLA2 mRNA	CTD	PMID:32109520
BOLA2	Human	3,4-methylenedioxymethamphetamine	increases methylation	ISO	RGD:1320647	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in increased methylation of BOLA2 promoter	CTD	PMID:26251327
BOLA2	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	RGD:1320647	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of BOLA2 mRNA	CTD	PMID:26251327
BOLA2	Human	4,4'-diaminodiphenylmethane	affects expression	ISO	RGD:1320647	6480464	4,4'-diaminodiphenylmethane affects the expression of BOLA2 mRNA	CTD	PMID:18648102
BOLA2	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1320647	6480464	bisphenol S results in increased expression of BOLA2 mRNA	CTD	PMID:39298647
BOLA2	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of BOLA2 gene	CTD	PMID:31601247
BOLA2	Human	acrylamide	decreases expression	ISO	RGD:1565363	6480464	Acrylamide results in decreased expression of BOLA2 mRNA	CTD	PMID:28959563
BOLA2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of BOLA2 gene	CTD	PMID:27153756
BOLA2	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of BOLA2 mRNA	CTD	PMID:23724009
BOLA2	Human	amiodarone	increases expression	EXP		6480464	Amiodarone results in increased expression of BOLA2 mRNA	CTD	PMID:19774075
BOLA2	Human	Aroclor 1254	increases expression	ISO	RGD:1320647	6480464	Chlorodiphenyl (54% Chlorine) results in increased expression of BOLA2 mRNA	CTD	PMID:23650126
BOLA2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of BOLA2 promoter	CTD	PMID:27901495
BOLA2	Human	benzo[a]pyrene	increases expression	ISO	RGD:1320647	6480464	Benzo(a)pyrene results in increased expression of BOLA2 mRNA	CTD	PMID:35678645
BOLA2	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	RGD:1320647	6480464	Diethylhexyl Phthalate results in increased expression of BOLA2 mRNA	CTD	PMID:33754040
BOLA2	Human	bisphenol A	increases expression	ISO	RGD:1565363	6480464	bisphenol A results in increased expression of BOLA2 mRNA	CTD	PMID:25181051
BOLA2	Human	bisphenol A	affects methylation	EXP		6480464	bisphenol A affects the methylation of BOLA2 gene	CTD	PMID:31601247
BOLA2	Human	bisphenol A	increases expression	ISO	RGD:1320647	6480464	bisphenol A results in increased expression of BOLA2 mRNA	CTD	PMID:38074096
BOLA2	Human	bisphenol A	increases methylation	ISO	RGD:1320647	6480464	bisphenol A results in increased methylation of BOLA2 promoter	CTD	PMID:27312807
BOLA2	Human	bisphenol A	decreases expression	ISO	RGD:1565363	6480464	bisphenol A results in decreased expression of BOLA2 mRNA	CTD	PMID:32145629
BOLA2	Human	bisphenol F	decreases expression	ISO	RGD:1320647	6480464	bisphenol F results in decreased expression of BOLA2 mRNA	CTD	PMID:38685157
BOLA2	Human	cadmium atom	decreases expression	ISO	RGD:1565363	6480464	Cadmium results in decreased expression of BOLA2 mRNA	CTD	PMID:39025289
BOLA2	Human	carbon nanotube	increases expression	ISO	RGD:1320647	6480464	Nanotubes, Carbon analog results in increased expression of BOLA2 mRNA; Nanotubes, Carbon results in increased more ...	CTD	PMID:25554681\|PMID:25620056
BOLA2	Human	chlorpyrifos	increases expression	ISO	RGD:1320647	6480464	Chlorpyrifos results in increased expression of BOLA2 mRNA	CTD	PMID:37019170
BOLA2	Human	chromium(6+)	affects expression	ISO	RGD:1320647	6480464	chromium hexavalent ion affects the expression of BOLA2 mRNA	CTD	PMID:28472532
BOLA2	Human	D-glucitol	increases expression	ISO	RGD:1320647	6480464	Sorbitol results in increased expression of BOLA2 mRNA	CTD	PMID:35678645
BOLA2	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of BOLA2 mRNA	CTD	PMID:29803840
BOLA2	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation more ...	CTD	PMID:23301498
BOLA2	Human	ethanol	affects expression	ISO	RGD:1320647	6480464	Ethanol affects the expression of BOLA2 mRNA	CTD	PMID:30319688
BOLA2	Human	ethylparaben	increases expression	EXP		6480464	ethyl-p-hydroxybenzoate results in increased expression of BOLA2 mRNA	CTD	PMID:37690743
BOLA2	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of BOLA2 mRNA	CTD	PMID:21179406
BOLA2	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of BOLA2 protein	CTD	PMID:32959892
BOLA2	Human	pentachlorophenol	increases expression	ISO	RGD:1320647	6480464	Pentachlorophenol results in increased expression of BOLA2 mRNA	CTD	PMID:23892564
BOLA2	Human	perfluorooctanoic acid	increases expression	ISO	RGD:1320647	6480464	perfluorooctanoic acid results in increased expression of BOLA2 mRNA	CTD	PMID:35678645
BOLA2	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in decreased expression of BOLA2 more ...	CTD	PMID:37664457
BOLA2	Human	sodium arsenite	multiple interactions	EXP		6480464	sodium arsenite promotes the reaction [BOLA2 protein binds to CAPRIN1 protein]	CTD	PMID:33939924
BOLA2	Human	tamoxifen	affects expression	ISO	RGD:1320647	6480464	Tamoxifen affects the expression of BOLA2 mRNA	CTD	PMID:17555576
BOLA2	Human	tetrachloroethene	decreases expression	ISO	RGD:1320647	6480464	Tetrachloroethylene results in decreased expression of BOLA2 mRNA	CTD	PMID:28973375
BOLA2	Human	tetrachloromethane	increases expression	ISO	RGD:1565363	6480464	Carbon Tetrachloride results in increased expression of BOLA2 mRNA	CTD	PMID:31150632
BOLA2	Human	tetrachloromethane	decreases expression	ISO	RGD:1565363	6480464	Carbon Tetrachloride results in decreased expression of BOLA2 mRNA	CTD	PMID:33387578
BOLA2	Human	tetrachloromethane	increases expression	ISO	RGD:1320647	6480464	Carbon Tetrachloride results in increased expression of BOLA2 mRNA	CTD	PMID:31919559
BOLA2	Human	thimerosal	increases expression	EXP		6480464	Thimerosal results in increased expression of BOLA2 mRNA	CTD	PMID:27188386
BOLA2	Human	titanium dioxide	decreases expression	ISO	RGD:1320647	6480464	titanium dioxide analog results in decreased expression of BOLA2 mRNA	CTD	PMID:25111187
BOLA2	Human	titanium dioxide	decreases methylation	ISO	RGD:1320647	6480464	titanium dioxide results in decreased methylation of BOLA2 gene	CTD	PMID:35295148
BOLA2	Human	toluene	decreases expression	ISO	RGD:1565363	6480464	Toluene results in decreased expression of BOLA2 mRNA	CTD	PMID:22967744
BOLA2	Human	tungsten	increases expression	ISO	RGD:1320647	6480464	Tungsten results in increased expression of BOLA2 mRNA	CTD	PMID:30912803
BOLA2	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of BOLA2 gene	CTD	PMID:29154799
BOLA2	Human	zearalenone	decreases expression	ISO	RGD:1320647	6480464	Zearalenone results in decreased expression of BOLA2 protein	CTD	PMID:36252740
BOLA2	Human	zoledronic acid	increases expression	EXP		6480464	zoledronic acid results in increased expression of BOLA2 mRNA	CTD	PMID:24714768

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)
BOLA2	Human	[2Fe-2S] cluster assembly	involved_in	IDA		150520179	PMID:27519415	UniProt	PMID:27519415
BOLA2	Human	cell redox homeostasis	involved_in	IDA		150520179	PMID:27519415	ComplexPortal	PMID:27519415
BOLA2	Human	intracellular iron ion homeostasis	involved_in	IDA		150520179	PMID:27519415	ComplexPortal	PMID:27519415
BOLA2	Human	intracellular iron ion homeostasis	involved_in	IBA	PANTHER:PTN001763703\|PomBase:SPAC8C9.11\|UniProtKB:Q9H3K6	150520179		GO_Central	GO_REF:0000033
BOLA2	Human	intracellular iron ion homeostasis	involved_in	IEA	InterPro:IPR045115	150520179		InterPro	GO_REF:0000002
BOLA2	Human	iron-sulfur cluster assembly	involved_in	IDA		150520179	PMID:27519415	ComplexPortal	PMID:27519415
BOLA2	Human	protein maturation	involved_in	IEA	InterPro:IPR045115	150520179		InterPro	GO_REF:0000002

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)
BOLA2	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
BOLA2	Human	cytoplasm	located_in	NAS		150520179	PMID:32910989	ComplexPortal	PMID:32910989
BOLA2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
BOLA2	Human	cytoplasm	located_in	IDA		150520179	PMID:22746225	UniProt	PMID:22746225
BOLA2	Human	cytosol	is_active_in	IBA	PANTHER:PTN001763703\|PomBase:SPAC8C9.11\|SGD:S000003188\|TAIR:locus:2178143\|UniProtKB:Q9H3K6	150520179		GO_Central	GO_REF:0000033
BOLA2	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-8950344
BOLA2	Human	iron-sulfur cluster assembly complex	part_of	IPI		150520179	PMID:22309771	ComplexPortal	PMID:22309771
BOLA2	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
BOLA2	Human	nucleus	located_in	NAS		150520179	PMID:32910989	ComplexPortal	PMID:32910989
BOLA2	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
BOLA2	Human	nucleus	is_active_in	IBA	PANTHER:PTN001763703\|PomBase:SPAC8C9.11\|TAIR:locus:2178143\|UniProtKB:Q9H3K6	150520179		GO_Central	GO_REF:0000033
BOLA2	Human	nucleus	located_in	IDA		150520179	PMID:22746225	UniProt	PMID:22746225

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)
BOLA2	Human	2 iron, 2 sulfur cluster binding	enables	IEA	InterPro:IPR045115	150520179		InterPro	GO_REF:0000002
BOLA2	Human	iron-sulfur cluster binding	enables	IBA	PANTHER:PTN001763703\|PomBase:SPAC8C9.11\|SGD:S000003188	150520179		GO_Central	GO_REF:0000033
BOLA2	Human	protein binding	enables	IPI	UniProtKB:O76003	150520179	PMID:27519415, PMID:33961781	IntAct	PMID:27519415\|PMID:33961781
BOLA2	Human	protein binding	enables	IPI	UniProtKB:O76003\|UniProtKB:Q6FI81	150520179	PMID:27519415	IntAct	PMID:27519415

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
BOLA2	Human	Autism		IAGP	RGD:14351735	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
BOLA2	Human	Autistic behavior		IAGP	RGD:11050290	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:18184952\|PMID:25255310

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12009310	PMID:12107411	PMID:12477932	PMID:12665801	PMID:14718656	PMID:15489334	PMID:17620599	PMID:18548201	PMID:19274049	PMID:19738201	PMID:21145461	PMID:21565611
PMID:21873635	PMID:22309771	PMID:22623428	PMID:22746225	PMID:23084401	PMID:23376485	PMID:23398456	PMID:23402259	PMID:24981860	PMID:25963833	PMID:26527279	PMID:26613676
PMID:26990986	PMID:27487209	PMID:27519415	PMID:27684187	PMID:28302793	PMID:28515276	PMID:28581483	PMID:28675297	PMID:29128334	PMID:29298432	PMID:29507755	PMID:29845934
PMID:30110629	PMID:30884312	PMID:30948266	PMID:31048545	PMID:31586073	PMID:31668704	PMID:31980649	PMID:32129710	PMID:32203420	PMID:32296183	PMID:32457219	PMID:32552912
PMID:32698014	PMID:32807901	PMID:32910989	PMID:32971831	PMID:33306668	PMID:33916271	PMID:33957083	PMID:33961781	PMID:34083449	PMID:35013218	PMID:35256949	PMID:35563538
PMID:35575683	PMID:35696571	PMID:35819319	PMID:35831314	PMID:35944360	PMID:35987950	PMID:36042349	PMID:36168628	PMID:36215168	PMID:36931259	PMID:37317656	PMID:37689310
PMID:38113892	PMID:38569033

BOLA2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	29,453,588 - 29,454,964 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	29,453,590 - 29,454,351 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	16	30,192,932 - 30,194,306 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	29,464,909 - 29,466,285 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	29,362,071 - 29,373,786 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	27,866,894 - 27,868,265 (-)	NCBI		HuRef
CHM1_1	16	30,476,743 - 30,478,114 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	29,735,379 - 29,736,755 (-)	NCBI		T2T-CHM13v2.0

Bola2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	126,295,172 - 126,295,865 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	126,294,573 - 126,298,970 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	126,696,000 - 126,696,693 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	126,695,401 - 126,699,798 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	133,839,514 - 133,840,207 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	126,487,148 - 126,487,841 (+)	NCBI		MGSCv36	mm8
Celera	7	126,543,275 - 126,543,968 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	69.25	NCBI

Bola2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	190,722,535 - 190,723,401 (+)	NCBI		GRCr8
mRatBN7.2	1	181,291,967 - 181,292,833 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	181,291,398 - 181,292,676 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	189,643,189 - 189,644,055 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	196,829,259 - 196,830,125 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	189,496,667 - 189,497,533 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	198,120,104 - 198,121,158 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	198,120,099 - 198,121,158 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	205,099,103 - 205,100,160 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	185,848,957 - 185,850,016 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	178,949,256 - 178,950,310 (+)	NCBI		Celera
Cytogenetic Map	1	q36	NCBI

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	copy number gain	See cases [RCV000050652]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	copy number loss	See cases [RCV000050653]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3	copy number gain	See cases [RCV000051168]	Chr16:29227272..30321260 [GRCh38] Chr16:29238593..30332581 [GRCh37] Chr16:29146094..30240082 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	copy number gain	See cases [RCV000052401]	Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	copy number loss	See cases [RCV000052520]	Chr16:28456967..30295107 [GRCh38] Chr16:28468288..30306428 [GRCh37] Chr16:28375789..30213929 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	copy number gain	See cases [RCV000053118]	Chr16:28293803..29531653 [GRCh38] Chr16:28305124..29542974 [GRCh37] Chr16:28212625..29450475 [NCBI36] Chr16:16p12.1-11.2	uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000054252]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	copy number loss	See cases [RCV000054253]	Chr16:28531783..30183432 [GRCh38] Chr16:28543104..30194753 [GRCh37] Chr16:28450605..30102254 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	copy number gain	See cases [RCV000054346]	Chr16:28366111..30183432 [GRCh38] Chr16:28377432..30194753 [GRCh37] Chr16:28284933..30102254 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	copy number gain	See cases [RCV000054347]	Chr16:29086504..30333716 [GRCh38] Chr16:29097825..30345037 [GRCh37] Chr16:29005326..30252538 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3	copy number gain	See cases [RCV000054255]	Chr16:29441012..30183432 [GRCh38] Chr16:29452333..30194753 [GRCh37] Chr16:29359834..30102254 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1	copy number loss	See cases [RCV000054256]	Chr16:29441012..30183432 [GRCh38] Chr16:29452333..30194753 [GRCh37] Chr16:29359834..30102254 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29170620-30179388)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054348]\|See cases [RCV000054348]	Chr16:29170620..30179388 [GRCh38] Chr16:29181941..30190709 [GRCh37] Chr16:29089442..30098210 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	copy number gain	See cases [RCV000054364]	Chr16:29170820..30179247 [GRCh38] Chr16:29182141..30190568 [GRCh37] Chr16:29089642..30098069 [NCBI36] Chr16:16p11.2	pathogenic\|likely pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227072-30179388)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]\|Global developmental delay [RCV000054366]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054365]\|See cases [RCV000054365]	Chr16:29227072..30179388 [GRCh38] Chr16:29238393..30190709 [GRCh37] Chr16:29145894..30098210 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3	copy number gain	See cases [RCV000054367]	Chr16:29441012..30323310 [GRCh38] Chr16:29452333..30334631 [GRCh37] Chr16:29359834..30242132 [NCBI36] Chr16:16p11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	copy number gain	See cases [RCV000135765]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic\|uncertain significance
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	copy number gain	See cases [RCV000136065]	Chr16:29318115..30179272 [GRCh38] Chr16:29329436..30190593 [GRCh37] Chr16:29236937..30098094 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	copy number loss	See cases [RCV000137580]	Chr16:28392832..30186020 [GRCh38] Chr16:28404153..30197341 [GRCh37] Chr16:28311654..30104842 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3	copy number gain	See cases [RCV000137618]	Chr16:29427948..30320693 [GRCh38] Chr16:29439269..30332014 [GRCh37] Chr16:29346770..30239515 [NCBI36] Chr16:16p11.2	likely pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	copy number gain	See cases [RCV000138501]	Chr16:29318115..30321248 [GRCh38] Chr16:29329436..30332569 [GRCh37] Chr16:29236937..30240070 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	copy number loss	See cases [RCV000139916]	Chr16:28392832..30320693 [GRCh38] Chr16:28404153..30332014 [GRCh37] Chr16:28311654..30239515 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1	copy number loss	See cases [RCV000141285]	Chr16:29427948..30186020 [GRCh38] Chr16:29439269..30197341 [GRCh37] Chr16:29346770..30104842 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1	copy number loss	See cases [RCV000143228]	Chr16:29420891..30166595 [GRCh38] Chr16:29432212..30177916 [GRCh37] Chr16:29339713..30085417 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	copy number loss	See cases [RCV000148148]	Chr16:28492482..30179247 [GRCh38] Chr16:28503803..30190568 [GRCh37] Chr16:28411304..30098069 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	copy number gain	See cases [RCV000148119]	Chr16:29170820..30179247 [GRCh38] Chr16:29182141..30190568 [GRCh37] Chr16:29089642..30098069 [NCBI36] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	copy number gain	See cases [RCV000148125]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	copy number loss	See cases [RCV000148095]	Chr16:29227272..30179247 [GRCh38] Chr16:29238593..30190568 [GRCh37] Chr16:29146094..30098069 [NCBI36] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3	copy number gain	See cases [RCV000240123]	Chr16:29060171..30197341 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3	copy number gain	See cases [RCV000239797]	Chr16:29060171..30195607 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207226]	Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
NC_000016.10:g.(?_29390980)_(30215610_?)dup	duplication	Autism spectrum disorder [RCV000208728]	Chr16:29390980..30215610 [GRCh38] Chr16:29402301..30226931 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1	copy number loss	See cases [RCV000239420]	Chr16:29412503..30215621 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	copy number gain	See cases [RCV000449403]	Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1	copy number loss	See cases [RCV000447001]	Chr16:28486693..30197290 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30344958)x3	copy number gain	See cases [RCV000446565]	Chr16:29421694..30344958 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30191848)x1	copy number loss	See cases [RCV000445672]	Chr16:29351826..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x3	copy number gain	See cases [RCV000448489]	Chr16:29432212..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30332125)x3	copy number gain	See cases [RCV000448891]	Chr16:29432212..30332125 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30226930)x1	copy number loss	See cases [RCV000448182]	Chr16:29432212..30226930 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3	copy number gain	See cases [RCV000448328]	Chr16:29060171..30197290 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29060171-29624872)x3	copy number gain	See cases [RCV000448672]	Chr16:29060171..29624872 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3	copy number gain	See cases [RCV000510272]	Chr16:29421662..30240227 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1	copy number loss	See cases [RCV000511533]	Chr16:28441538..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3	copy number gain	See cases [RCV000511586]	Chr16:29421694..30240227 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	copy number loss	See cases [RCV000511271]	Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2	pathogenic
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	copy number gain	See cases [RCV000512428]	Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1	copy number loss	not provided [RCV000683807]	Chr16:29383808..30190029 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1	copy number loss	not provided [RCV000683809]	Chr16:29432212..30339520 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1	copy number loss	not provided [RCV000683808]	Chr16:29432212..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1	copy number loss	not provided [RCV000683806]	Chr16:29351826..30332071 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:29464268-29485805)x1	copy number loss	not provided [RCV000739115]	Chr16:29464268..29485805 [GRCh37] Chr16:16p11.2	benign
Single allele	duplication	Autism [RCV000754182]	Chr16:29401125..30312960 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29042050-30199025)	copy number loss	Proximal 16p11.2 microdeletion syndrome [RCV000767610]	Chr16:29042050..30199025 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	copy number loss	not provided [RCV000846340]	Chr16:28466730..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	copy number loss	not provided [RCV000848428]	Chr16:28466730..30177916 [GRCh37] Chr16:16p11.2	pathogenic
Single allele	deletion	Proximal 16p11.2 microdeletion syndrome [RCV001250752]	Chr16:29446604..30218886 [GRCh37] Chr16:16p11.2	risk factor
GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	copy number loss	not provided [RCV001006789]	Chr16:28466730..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	copy number loss	not provided [RCV002473521]	Chr16:29432213..30240227 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30177240)x1	copy number loss	not provided [RCV001006791]	Chr16:29432212..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	copy number gain	not provided [RCV001249228]	Chr16:21312200..29646379 [GRCh37] Chr16:16p12.2-11.2	not provided
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	copy number loss	not provided [RCV001006792]	Chr16:29432212..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3	copy number gain	not provided [RCV001258617]	Chr16:29383808..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29448001-30302100)	copy number gain	See cases [RCV001263033]	Chr16:29448001..30302100 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	copy number gain	See cases [RCV001263169]	Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2	pathogenic\|likely pathogenic
GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	copy number loss	not provided [RCV001258616]	Chr16:28488319..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	copy number gain	not provided [RCV001281364]	Chr16:29443322..30320321 [GRCh37] Chr16:16p11.2	pathogenic
NM_007074.4(CORO1A):c.336A>G (p.Pro112=)	single nucleotide variant	Severe combined immunodeficiency due to CORO1A deficiency [RCV001523069]\|not provided [RCV001808802]\|not specified [RCV000429482]	Chr16:30186830 [GRCh38] Chr16:30198151 [GRCh37] Chr16:16p11.2	benign
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	deletion	See cases [RCV002227010]	Chr16:29595531..30188533 [GRCh38] Chr16:16p11.2	likely pathogenic\|low penetrance
GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1	copy number loss	See cases [RCV002285052]	Chr16:29432212..30177807 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	copy number loss	not provided [RCV001795549]	Chr16:21594997..29625302 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	copy number gain	Distal 16p11.2 microdeletion syndrome [RCV001801190]	Chr16:28353878..29478115 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	copy number gain	Distal 16p11.2 microdeletion syndrome [RCV001801184]	Chr16:29464904..30233799 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	copy number loss	not provided [RCV001834285]	Chr16:28485883..29589674 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	copy number loss	not provided [RCV002472634]	Chr16:28466731..30321320 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	copy number gain	not provided [RCV002472599]	Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	copy number gain	not provided [RCV002474541]	Chr16:21576803..30177240 [GRCh37] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	copy number loss	not provided [RCV003483285]	Chr16:29343245..30240227 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29412892-29580022)x1	copy number loss	not provided [RCV003483287]	Chr16:29412892..29580022 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	copy number loss	not provided [RCV003483288]	Chr16:29432213..30226930 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	copy number loss	not provided [RCV003483286]	Chr16:29383809..29957798 [GRCh37] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	copy number loss	Proximal 16p11.2 microdeletion syndrome [RCV003883244]	Chr16:29329272..30178707 [GRCh38] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	copy number loss	not specified [RCV003987165]	Chr16:29427215..30177240 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	copy number loss	not specified [RCV003987159]	Chr16:29383808..30191848 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	copy number loss	not specified [RCV003987145]	Chr16:29432212..30178406 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	copy number loss	See cases [RCV004442849]	Chr16:29428532..30190029 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	copy number gain	See cases [RCV004442751]	Chr16:29412503..30190029 [GRCh37] Chr16:16p11.2	uncertain significance
NC_000016.9:g.(?_28889993)_(31202759_?)del	deletion	Dilated Cardiomyopathy, Dominant [RCV004582801]	Chr16:28889993..31202759 [GRCh37] Chr16:16p11.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	350
Count of miRNA genes:	330
Interacting mature miRNAs:	350
Transcripts:	ENST00000330978
Prediction methods:	Miranda, Rnahybrid
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.

L18506

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	10	p12	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	2	q32-q34	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	19	p13	UniSTS

D10S275

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	13	q12.13	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	4	q32.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	1	p35.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	14	q22-q24	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	10	p11	UniSTS
Cytogenetic Map	1	p13.1	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	6	q24	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	3	p25	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	q22	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	X	p22.2-p22.1	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	20	pter-q11.23	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	10	p12.3	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	3	q26.3	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	5	q23.2	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	1	q24-q25.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	6	q25.2-q27	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	12	q24.32	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	14	q31	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	11	p14.3	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	4	q13	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	7	p14.2	UniSTS
Cytogenetic Map	6	q24.3	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	6	q12-q13	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	2	p22	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	2	p14	UniSTS

RH102308

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS

RH76583

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	16	p11.2	UniSTS

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


RefSeq Transcripts	NM_001031827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC133555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC245044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF060511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ639539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU590412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000305321 ⟹ ENSP00000306752

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,192,935 - 30,194,306 (-)	Ensembl

Ensembl Acc Id:

ENST00000330978 ⟹ ENSP00000331127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,453,593 - 29,454,351 (-)	Ensembl

Ensembl Acc Id:

ENST00000380596 ⟹ ENSP00000482868

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,443,056 - 29,454,562 (-)	Ensembl

Ensembl Acc Id:

ENST00000565525

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,192,935 - 30,193,524 (-)	Ensembl

Ensembl Acc Id:

ENST00000567436 ⟹ ENSP00000457995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,192,934 - 30,193,697 (-)	Ensembl

Ensembl Acc Id:

ENST00000569282 ⟹ ENSP00000455468

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,192,934 - 30,193,666 (-)	Ensembl

Ensembl Acc Id:

ENST00000651894 ⟹ ENSP00000498355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,192,932 - 30,193,666 (-)	Ensembl

Ensembl Acc Id:

ENST00000692192 ⟹ ENSP00000510069

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	29,453,590 - 29,454,343 (-)	Ensembl

RefSeq Acc Id:

NM_001031827 ⟹ NP_001026997

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,453,593 - 29,454,351 (-)	NCBI
GRCh37	16	29,452,601 - 29,466,285 (-)	NCBI
Build 36	16	29,372,416 - 29,373,786 (-)	NCBI Archive
HuRef	16	27,866,895 - 27,868,266 (-)	RGD
CHM1_1	16	30,476,738 - 30,478,114 (-)	NCBI
T2T-CHM13v2.0	16	29,735,384 - 29,736,142 (-)	NCBI

Sequence:

show sequence

CAGCGGAAGTGGCTCCTGTAAGGCAGCAAGGTAGCGTGGCCGGCGCCCGAGCTGGGGTTGTGTCCCTGCTGGGCTGCCGTTCCAGCTGGACTGCCGCCATGGAACTCAGCGCCGAATACCTCCGCGAG
AAGCTGCAGCGGGACCTGGAGGCGGAGCATGTGGAGGTGGAGGACACGACCCTCAACCGTTGCTCCTGTAGCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACA
CAGGCTGGTGAACGCGTGCCTAGCAGAAGAGCTCCCGCACATCCATGCCTTTGAACAGAAAACCCTGACCCCAGACCAGTGGGCACGTGAGCGACAGAAATGAGGGACTGGGATCTGCACAGCCATTA
AATTATAAATCTGGA

hide sequence

RefSeq Acc Id:

NM_001320579 ⟹ NP_001307508

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,453,588 - 29,454,964 (-)	NCBI
CHM1_1	16	30,476,738 - 30,478,114 (-)	NCBI
T2T-CHM13v2.0	16	29,735,379 - 29,736,755 (-)	NCBI

Sequence:

show sequence

CTTCCTCCCGGCACAGAAGGCCTCCCCCTCTCACCAGGGCCCTCGCCCGCTGGTCCGCCAGGCC
CCGCCTTTTTTGCGGCCCCCATTGTGCTGCTGGACCCGACGAGCAGTGTTGACAGTGAACCCCACGTAGACGCGGCCCCGGTACCGGGGGTTCAGGCAGTAGAGCAGGTAGACGCCGAAAAAGCGCCC
TGGCCTCGCCGCGACCCCCGCGGGACCCATCGGGCCTTGGGGTTCGGGAACCACAGCAGGGGGTTGATTGCCGTGACCTAGGGTCCAGGGGAGGGCTGGATCGCTAGGGCTGCAGGGTGCTTGCTTCG
GAACAAGCTCTCGGGGACTATCCGGAGGCAGCCTGCAGGAAGCCGTAGCGCCGGTACGTGCCCCTCTCCTGTCTGGAGGCGGGTGTAGAAGTCCGACCGCGGAAGCCAGACTGCTGTCCAGTCGGCGA
GCGCGTACCATTCAGCATCGGCTCCGCCCGAGTCCCACCTTCCTCAGGCTCTGATTGGCTGACACATGGCAAGCGCGAAAAGCCTGGACCGCTGGAAAGCCCGGCTGCTTGAGGGCGGAAGTACTGCG
TTGACGTACGCCTTAGTAAGGGCGGAAGTGAGTTTTCCAGCGGAAGTGGCTCCTGTAAGGCAGCAAGGTAGCGTGGCCGGCGCCCGAGCTGGGGTTGTGTCCCTGCTGGGCTGCCGTTCCAGCTGGAC
TGCCGCCATGGAACTCAGCGCCGAATACCTCCGCGAGAAGCTGCAGCGGGACCTGGAGGCGGAGCATGTGCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACAC
AGGCTGGTGAACGCGTGCCTAGCAGAAGAGCTCCCGCACATCCATGCCTTTGAACAGAAAACCCTGACCCCAGACCAGTGGGCACGTGAGCGACAGAAATGAGGGACTGGGATCTGCACAGCCATTAA
ATTATAAATCTGGACCAGC

hide sequence

RefSeq Acc Id:

NR_135304

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,453,588 - 29,454,205 (-)	NCBI
CHM1_1	16	30,476,738 - 30,477,355 (-)	NCBI
T2T-CHM13v2.0	16	29,735,379 - 29,735,996 (-)	NCBI

Sequence:

show sequence

GAGGCGGAGCATGTGGTGAGTTGAGCCGCCGGACAAGGGGAAAAGAGCTCGGGGGGCGGGTTCG
GCACCATTCATATTCTTCCGCTCGGTAGGAGGTGGAGGACACGACCCTCAACCGTTGCTCCTGTAGCTTCCGAGTCCTGGTGGTGTCGGCCAAGTTCGAGGGGAAACCGCTGCTTCAGAGACACAGGC
TGGTGAACGCGTGCCTAGCAGAAGAGCTCCCGCACATCCATGCCTTTGAACAGAAAACCCTGACCCCAGACCAGTGGGCACGTGAGCGACAGAAATGAGGGACTGGGATCTGCACAGCCATTAAATTA
TAAATCTGGACCAGC

hide sequence


Protein RefSeqs	NP_001026997	(Get FASTA)	NCBI Sequence Viewer
	NP_001307508	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG43129	(Get FASTA)	NCBI Sequence Viewer
	AAH22832	(Get FASTA)	NCBI Sequence Viewer
	AAI44689	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000331127
	ENSP00000331127.4
	ENSP00000498355.1
GenBank Protein	Q9H3K6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001026997 ⟸ NM_001031827
- Peptide Label:	isoform 1
- UniProtKB:	Q9H3K6 (UniProtKB/Swiss-Prot), A1L454 (UniProtKB/Swiss-Prot), A7YDY3 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MASAKSLDRWKARLLEGGSTALTYALVRAEVSFPAEVAPVRQQGSVAGARAGVVSLLGCRSSWTAAMELSAEYLREKLQRDLEAEHVEVEDTTLNRCSCSFRVLVVSAKFEGKPLLQRHRLVNACLAE ELPHIHAFEQKTLTPDQWARERQK hide sequence

RefSeq Acc Id:	NP_001307508 ⟸ NM_001320579
- Peptide Label:	isoform 2
- UniProtKB:	Q9H3K6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MASAKSLDRWKARLLEGGSTALTYALVRAEVSFPAEVAPVRQQGSVAGARAGVVSLLGCRSSWT AAMELSAEYLREKLQRDLEAEHVLPSPGGVGQVRGETAASETQAGERVPSRRAPAHPCL hide sequence

Ensembl Acc Id:

ENSP00000331127 ⟸ ENST00000330978

Ensembl Acc Id:

ENSP00000482868 ⟸ ENST00000380596

Ensembl Acc Id:

ENSP00000498355 ⟸ ENST00000651894

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H3K6-F1-model_v2	AlphaFold	Q9H3K6	1-86	view protein structure

RGD ID:

7231791

Promoter ID:

EPDNEW_H21642

Type:

initiation region

Name:

BOLA2_2

Description:

bolA family member 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21717

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	29,455,027 - 29,455,087	EPDNEW

Database	Acc Id	Source(s)
COSMIC	BOLA2	COSMIC
Ensembl Genes	ENSG00000169627	Ensembl, UniProtKB/Swiss-Prot
	ENSG00000183336	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000330978	ENTREZGENE
	ENST00000330978.4	UniProtKB/Swiss-Prot
	ENST00000651894.2	UniProtKB/Swiss-Prot
Gene3D-CATH	Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000169627	GTEx
	ENSG00000183336	GTEx
HGNC ID	HGNC:29488	ENTREZGENE
Human Proteome Map	BOLA2	Human Proteome Map
InterPro	BOL2	UniProtKB/Swiss-Prot
	BolA	UniProtKB/Swiss-Prot
	BolA-like_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:552900	UniProtKB/Swiss-Prot
	hsa:654483	UniProtKB/Swiss-Prot
NCBI Gene	552900	ENTREZGENE
OMIM	613182	OMIM
PANTHER	BOLA-LIKE PROTEIN 2	UniProtKB/Swiss-Prot
	PTHR12735	UniProtKB/Swiss-Prot
Pfam	BolA	UniProtKB/Swiss-Prot
PharmGKB	PA142672553	PharmGKB
PIRSF	BolA	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF82657	UniProtKB/Swiss-Prot
UniProt	A0A499FJE1_HUMAN	UniProtKB/TrEMBL
	A1L454	ENTREZGENE
	A7YDY3	ENTREZGENE
	BOLA2_HUMAN	UniProtKB/Swiss-Prot
	H3BPT9_HUMAN	UniProtKB/TrEMBL
	Q9H3K6	ENTREZGENE
UniProt Secondary	A1L454	UniProtKB/Swiss-Prot
	A7YDY3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-09-10	BOLA2	bolA family member 2	BOLA2	bolA homolog 2 (E. coli)	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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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar