Advanced Search (OLGA)

Gene: GAS2 (growth arrest specific 2) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

GAS2

Name:

growth arrest specific 2

RGD ID:

1348959

HGNC Page

HGNC:4167

Description:

Predicted to enable actin filament binding activity. Predicted to be involved in actin crosslink formation. Predicted to act upstream of or within several processes, including ovarian follicle development; ovulation; and regulation of Notch signaling pathway. Predicted to be located in actin filament and cytosol.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DFNB125; GAS-2; growth arrest-specific 2; growth arrest-specific protein 2; MGC32610

RGD Orthologs

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):	Gas2 (growth arrest specific 2)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gas2 (growth arrest-specific 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gas2 (growth arrest specific 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GAS2 (growth arrest specific 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	GAS2 (growth arrest specific 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gas2 (growth arrest specific 2)	NCBI	Ortholog
Sus scrofa (pig):	GAS2 (growth arrest specific 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	GAS2 (growth arrest specific 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gas2 (growth arrest specific 2)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Gas2 (growth arrest specific 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Gas2 (growth arrest-specific 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gas2b (growth arrest-specific 2b)	Alliance	DIOPT (Ensembl Compara\|PANTHER\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	gas2	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	gas2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gas2.S	Alliance	DIOPT (Xenbase)

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	11	22,626,002 - 22,813,055 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	22,625,509 - 22,813,001 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	22,688,122 - 22,834,601 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	22,646,230 - 22,791,123 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	22,646,229 - 22,791,122	NCBI
Celera	11	22,822,041 - 22,968,405 (+)	NCBI		Celera
Cytogenetic Map	11	p14.3	NCBI
HuRef	11	22,371,075 - 22,517,950 (+)	NCBI		HuRef
CHM1_1	11	22,687,492 - 22,833,858 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	22,746,758 - 22,933,721 (+)	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)
GAS2	Human	Autosomal Recessive Nonsyndromic Deafness 125		IAGP	RGD:596944162	8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125	ClinVar
GAS2	Human	Autosomal Recessive Nonsyndromic Deafness 125		IAGP	RGD:407424945	8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125	ClinVar	PMID:33964205
GAS2	Human	intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2	Human	adenoid cystic carcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16762588
GAS2	Human	Salivary Gland Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16762588

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2	Human	sensorineural hearing loss		ISS	RGD:1558248	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2	Human	Autosomal Recessive Nonsyndromic Deafness 125		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)
GAS2	Human	(+)-schisandrin B	multiple interactions	ISO	RGD:1563167	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of GAS2 mRNA]	CTD	PMID:31150632
GAS2	Human	1,1-dichloroethene	decreases expression	ISO	RGD:1558248	6480464	vinylidene chloride results in decreased expression of GAS2 mRNA	CTD	PMID:26682919
GAS2	Human	1,2-dichloroethane	decreases expression	ISO	RGD:1558248	6480464	ethylene dichloride results in decreased expression of GAS2 mRNA	CTD	PMID:28189721
GAS2	Human	1,2-dichloroethane	affects expression	ISO	RGD:1558248	6480464	ethylene dichloride affects the expression of GAS2 mRNA	CTD	PMID:28960355
GAS2	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:1558248	6480464	Ethinyl Estradiol results in increased expression of GAS2 mRNA	CTD	PMID:17942748
GAS2	Human	17alpha-ethynylestradiol	multiple interactions	ISO	RGD:1558248	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GAS2 mRNA	CTD	PMID:17942748
GAS2	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of GAS2 mRNA	CTD	PMID:20106945
GAS2	Human	17beta-estradiol	decreases expression	ISO	RGD:1558248	6480464	Estradiol results in decreased expression of GAS2 mRNA	CTD	PMID:39298647
GAS2	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	RGD:1558248	6480464	2,4,5,2',4',5'-hexachlorobiphenyl affects the reaction [NR1I2 protein affects the expression of GAS2 mRNA]	CTD	PMID:32352317
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1558248	6480464	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of GAS2 mRNA; [Tetrachlorodibenzodioxin co-treated more ...	CTD	PMID:16214954\|PMID:17942748
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1563167	6480464	Tetrachlorodibenzodioxin results in increased expression of GAS2 mRNA	CTD	PMID:33387578
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1563167	6480464	Tetrachlorodibenzodioxin results in decreased expression of GAS2 mRNA	CTD	PMID:21215274\|PMID:21724226\|PMID:32109520
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of GAS2 mRNA	CTD	PMID:20106945\|PMID:21632981
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1563167	6480464	Tetrachlorodibenzodioxin affects the expression of GAS2 mRNA	CTD	PMID:22298810
GAS2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1558248	6480464	Tetrachlorodibenzodioxin results in increased expression of GAS2 mRNA	CTD	PMID:19933214
GAS2	Human	2,5-hexanedione	increases expression	ISO	RGD:1563167	6480464	2,5-hexanedione results in increased expression of GAS2 mRNA	CTD	PMID:22952946
GAS2	Human	3',5'-cyclic UMP	affects binding	EXP		6480464	GAS2 protein binds to cyclic 3',5'-uridine monophosphate	CTD	PMID:30528433
GAS2	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	ISO	RGD:1558248	6480464	[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression more ...	CTD	PMID:16054899
GAS2	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1563167	6480464	Propylthiouracil results in decreased expression of GAS2 mRNA	CTD	PMID:30047161
GAS2	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of GAS2 protein	CTD	PMID:20106945
GAS2	Human	aflatoxin B1	increases expression	ISO	RGD:1563167	6480464	Aflatoxin B1 results in increased expression of GAS2 mRNA	CTD	PMID:33354967
GAS2	Human	aflatoxin B1	decreases expression	EXP		6480464	Aflatoxin B1 results in decreased expression of GAS2 mRNA	CTD	PMID:22100608\|PMID:27153756
GAS2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of GAS2 gene	CTD	PMID:27153756
GAS2	Human	aflatoxin B1	decreases expression	ISO	RGD:1558248	6480464	Aflatoxin B1 results in decreased expression of GAS2 mRNA	CTD	PMID:19770486
GAS2	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of GAS2 mRNA	CTD	PMID:21934132\|PMID:23724009
GAS2	Human	amitrole	decreases expression	ISO	RGD:1563167	6480464	Amitrole results in decreased expression of GAS2 mRNA	CTD	PMID:30047161
GAS2	Human	aristolochic acid A	multiple interactions	ISO	RGD:1563167	6480464	[aristolochic acid I co-treated with aristolochic acid II] results in decreased expression of GAS2 mRNA	CTD	PMID:23912714
GAS2	Human	arsenite(3-)	increases methylation	EXP		6480464	arsenite results in increased methylation of GAS2 promoter	CTD	PMID:23974009
GAS2	Human	arsenous acid	multiple interactions	EXP		6480464	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GAS2 protein]	CTD	PMID:26598702
GAS2	Human	Benoxacor	increases expression	ISO	RGD:1558248	6480464	benoxacor results in increased expression of GAS2 mRNA	CTD	PMID:34850242
GAS2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of GAS2 5' UTR; Benzo(a)pyrene affects the methylation of GAS2 promoter	CTD	PMID:27901495
GAS2	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of GAS2 mRNA	CTD	PMID:32234424
GAS2	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of GAS2 mRNA	CTD	PMID:38218311
GAS2	Human	bisphenol A	multiple interactions	ISO	RGD:1563167	6480464	[bisphenol A co-treated with Testosterone] results in increased expression of GAS2 mRNA	CTD	PMID:26496021
GAS2	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of GAS2 gene	CTD	PMID:31601247
GAS2	Human	bisphenol A	increases expression	ISO	RGD:1558248	6480464	bisphenol A results in increased expression of GAS2 mRNA	CTD	PMID:33221593
GAS2	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of GAS2 mRNA	CTD	PMID:31715268
GAS2	Human	bisphenol A	decreases expression	ISO	RGD:1563167	6480464	bisphenol A results in decreased expression of GAS2 mRNA	CTD	PMID:25181051
GAS2	Human	bisphenol F	increases expression	ISO	RGD:1558248	6480464	bisphenol F results in increased expression of GAS2 mRNA	CTD	PMID:38685157
GAS2	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of GAS2 mRNA	CTD	PMID:26079696
GAS2	Human	C60 fullerene	decreases expression	ISO	RGD:1563167	6480464	fullerene C60 results in decreased expression of GAS2 mRNA	CTD	PMID:19167457
GAS2	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of GAS2 protein	CTD	PMID:35688186
GAS2	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of GAS2 mRNA	CTD	PMID:25979313
GAS2	Human	carbon nanotube	decreases expression	ISO	RGD:1558248	6480464	Nanotubes, Carbon analog results in decreased expression of GAS2 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25620056
GAS2	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to GAS2 gene]	CTD	PMID:28238834
GAS2	Human	chlorpyrifos	increases expression	ISO	RGD:1558248	6480464	Chlorpyrifos results in increased expression of GAS2 mRNA	CTD	PMID:20350560
GAS2	Human	cocaine	affects expression	ISO	RGD:1558248	6480464	Cocaine affects the expression of GAS2 mRNA	CTD	PMID:15681117
GAS2	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of GAS2 mRNA	CTD	PMID:19549813
GAS2	Human	crocidolite asbestos	decreases expression	ISO	RGD:1558248	6480464	Asbestos, Crocidolite results in decreased expression of GAS2 mRNA	CTD	PMID:29279043
GAS2	Human	cyclophosphamide	increases expression	EXP		6480464	Cyclophosphamide results in increased expression of GAS2 protein	CTD	PMID:17475930
GAS2	Human	cyclosporin A	decreases expression	ISO	RGD:1558248	6480464	Cyclosporine results in decreased expression of GAS2 mRNA	CTD	PMID:19770486
GAS2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of GAS2 mRNA	CTD	PMID:20106945\|PMID:25562108
GAS2	Human	dexamethasone	multiple interactions	ISO	RGD:1558248	6480464	[Dexamethasone co-treated with rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression more ...	CTD	PMID:16054899
GAS2	Human	diarsenic trioxide	multiple interactions	EXP		6480464	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GAS2 protein]	CTD	PMID:26598702
GAS2	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of GAS2 mRNA	CTD	PMID:28302478
GAS2	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
GAS2	Human	emodin	increases expression	EXP		6480464	Emodin results in increased expression of GAS2 mRNA	CTD	PMID:16045814
GAS2	Human	endosulfan	decreases expression	ISO	RGD:1563167	6480464	Endosulfan results in decreased expression of GAS2 mRNA	CTD	PMID:29391264
GAS2	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of GAS2 mRNA	CTD	PMID:23649840
GAS2	Human	fipronil	increases expression	ISO	RGD:1563167	6480464	fipronil results in increased expression of GAS2 mRNA	CTD	PMID:23962444
GAS2	Human	flutamide	decreases expression	ISO	RGD:1563167	6480464	Flutamide results in decreased expression of GAS2 mRNA	CTD	PMID:24793618
GAS2	Human	folic acid	decreases expression	ISO	RGD:1558248	6480464	Folic Acid results in decreased expression of GAS2 mRNA	CTD	PMID:25629700
GAS2	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of GAS2 mRNA	CTD	PMID:23649840
GAS2	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of GAS2 gene	CTD	PMID:31601247
GAS2	Human	malathion	increases expression	EXP		6480464	Malathion results in increased expression of GAS2 mRNA	CTD	PMID:37047231
GAS2	Human	methapyrilene	decreases expression	ISO	RGD:1563167	6480464	Methapyrilene results in decreased expression of GAS2 mRNA	CTD	PMID:30467583
GAS2	Human	methimazole	decreases expression	ISO	RGD:1563167	6480464	Methimazole results in decreased expression of GAS2 mRNA	CTD	PMID:30047161
GAS2	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of GAS2 mRNA	CTD	PMID:23649840
GAS2	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of GAS2 mRNA	CTD	PMID:28001369
GAS2	Human	N(4)-hydroxycytidine	decreases expression	ISO	RGD:1558248	6480464	N(4)-hydroxycytidine results in decreased expression of GAS2 mRNA	CTD	PMID:37748715
GAS2	Human	N-methylformamide	decreases expression	ISO	RGD:1558248	6480464	methylformamide analog results in decreased expression of GAS2 mRNA; methylformamide results in decreased expression of more ...	CTD	PMID:17040096
GAS2	Human	N-nitrosodiethylamine	decreases expression	ISO	RGD:1558248	6480464	Diethylnitrosamine results in decreased expression of GAS2 mRNA	CTD	PMID:24535843
GAS2	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of GAS2 mRNA	CTD	PMID:24768652\|PMID:25583101
GAS2	Human	nickel dichloride	affects expression	ISO	RGD:1563167	6480464	nickel chloride affects the expression of GAS2 mRNA	CTD	PMID:22110744
GAS2	Human	okadaic acid	decreases expression	EXP		6480464	Okadaic Acid results in decreased expression of GAS2 mRNA	CTD	PMID:38832940
GAS2	Human	paracetamol	affects expression	ISO	RGD:1558248	6480464	Acetaminophen affects the expression of GAS2 mRNA	CTD	PMID:17562736
GAS2	Human	paracetamol	increases expression	ISO	RGD:1563167	6480464	Acetaminophen results in increased expression of GAS2 mRNA	CTD	PMID:33387578
GAS2	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of GAS2 mRNA	CTD	PMID:21420995\|PMID:29067470
GAS2	Human	paracetamol	increases expression	ISO	RGD:1558248	6480464	Acetaminophen results in increased expression of GAS2 mRNA	CTD	PMID:11264010
GAS2	Human	perfluorononanoic acid	decreases expression	EXP		6480464	perfluoro-n-nonanoic acid results in decreased expression of GAS2 mRNA	CTD	PMID:32588087
GAS2	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of GAS2 protein	CTD	PMID:26879310
GAS2	Human	phenobarbital	multiple interactions	ISO	RGD:1558248	6480464	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of GAS2 mRNA]	CTD	PMID:19482888
GAS2	Human	phenobarbital	decreases expression	ISO	RGD:1558248	6480464	Phenobarbital results in decreased expression of GAS2 mRNA	CTD	PMID:19482888
GAS2	Human	pirinixic acid	multiple interactions	ISO	RGD:1558248	6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in more ...	CTD	PMID:19710929
GAS2	Human	pirinixic acid	increases expression	ISO	RGD:1558248	6480464	pirinixic acid results in increased expression of GAS2 mRNA	CTD	PMID:16221962
GAS2	Human	pirinixic acid	decreases expression	ISO	RGD:1558248	6480464	pirinixic acid results in decreased expression of GAS2 mRNA	CTD	PMID:18445702
GAS2	Human	pyrazinecarboxamide	increases expression	ISO	RGD:1563167	6480464	Pyrazinamide results in increased expression of GAS2 mRNA	CTD	PMID:22431067
GAS2	Human	quercetin	decreases expression	EXP		6480464	Quercetin results in decreased expression of GAS2 mRNA	CTD	PMID:21632981
GAS2	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
GAS2	Human	silicon dioxide	decreases expression	ISO	RGD:1558248	6480464	Silicon Dioxide results in decreased expression of GAS2 mRNA	CTD	PMID:19073995\|PMID:23221170
GAS2	Human	sodium arsenite	decreases expression	ISO	RGD:1558248	6480464	sodium arsenite results in decreased expression of GAS2 mRNA	CTD	PMID:37682722
GAS2	Human	sodium fluoride	increases expression	ISO	RGD:1558248	6480464	Sodium Fluoride results in increased expression of GAS2 mRNA	CTD	PMID:27862939
GAS2	Human	sulfadimethoxine	decreases expression	ISO	RGD:1563167	6480464	Sulfadimethoxine results in decreased expression of GAS2 mRNA	CTD	PMID:30047161
GAS2	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of GAS2 mRNA	CTD	PMID:31533062
GAS2	Human	tert-butyl hydroperoxide	increases expression	ISO	RGD:1558248	6480464	tert-Butylhydroperoxide results in increased expression of GAS2 mRNA	CTD	PMID:14729362
GAS2	Human	testosterone	multiple interactions	ISO	RGD:1563167	6480464	[bisphenol A co-treated with Testosterone] results in increased expression of GAS2 mRNA	CTD	PMID:26496021
GAS2	Human	tetrachloromethane	decreases expression	ISO	RGD:1558248	6480464	Carbon Tetrachloride results in decreased expression of GAS2 mRNA	CTD	PMID:27339419\|PMID:31919559
GAS2	Human	tetrachloromethane	decreases expression	ISO	RGD:1563167	6480464	Carbon Tetrachloride results in decreased expression of GAS2 mRNA	CTD	PMID:31150632
GAS2	Human	tetrachloromethane	multiple interactions	ISO	RGD:1563167	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of GAS2 mRNA]	CTD	PMID:31150632
GAS2	Human	thioacetamide	decreases expression	ISO	RGD:1563167	6480464	Thioacetamide results in decreased expression of GAS2 mRNA	CTD	PMID:34492290
GAS2	Human	titanium dioxide	decreases expression	ISO	RGD:1558248	6480464	titanium dioxide results in decreased expression of GAS2 mRNA	CTD	PMID:29264374
GAS2	Human	triadimefon	decreases expression	ISO	RGD:1563167	6480464	triadimefon results in decreased expression of GAS2 mRNA	CTD	PMID:30047161
GAS2	Human	trichloroethene	decreases methylation	ISO	RGD:1563167	6480464	Trichloroethylene results in decreased methylation of GAS2 gene	CTD	PMID:27618143
GAS2	Human	trichloroethene	increases expression	ISO	RGD:1563167	6480464	Trichloroethylene results in increased expression of GAS2 mRNA	CTD	PMID:33387578
GAS2	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of GAS2 mRNA	CTD	PMID:24935251
GAS2	Human	tris(2-butoxyethyl) phosphate	affects expression	EXP		6480464	tris(2-butoxyethyl) phosphate affects the expression of GAS2 mRNA	CTD	PMID:29024780
GAS2	Human	trovafloxacin	decreases expression	ISO	RGD:1558248	6480464	trovafloxacin results in decreased expression of GAS2 mRNA	CTD	PMID:35537566
GAS2	Human	tunicamycin	increases expression	ISO	RGD:1558248	6480464	Tunicamycin results in increased expression of GAS2 mRNA	CTD	PMID:17127020
GAS2	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of GAS2 mRNA	CTD	PMID:28818685
GAS2	Human	valproic acid	decreases expression	ISO	RGD:1558248	6480464	Valproic Acid results in decreased expression of GAS2 mRNA	CTD	PMID:15799026\|PMID:21427059
GAS2	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
GAS2	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of GAS2 mRNA	CTD	PMID:19101580\|PMID:23179753\|PMID:24383497\|PMID:26272509\|PMID:28001369
GAS2	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of GAS2 mRNA	CTD	PMID:25979313
GAS2	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of GAS2 mRNA	CTD	PMID:23179753\|PMID:29154799
GAS2	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of GAS2 gene	CTD	PMID:29154799
GAS2	Human	vancomycin	increases expression	ISO	RGD:1558248	6480464	Vancomycin results in increased expression of GAS2 mRNA	CTD	PMID:18930951
GAS2	Human	venlafaxine hydrochloride	decreases expression	ISO	RGD:1563167	6480464	Venlafaxine Hydrochloride results in decreased expression of GAS2 mRNA	CTD	PMID:25423262

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)
GAS2	Human	actin crosslink formation	involved_in	IBA	PANTHER:PTN005319067\|dictyBase:DDB_G0269424	150520179		GO_Central	GO_REF:0000033
GAS2	Human	antral ovarian follicle growth	acts_upstream_of_or_within	IEA	UniProtKB:P11862\|ensembl:ENSMUSP00000103217	150520179		Ensembl	GO_REF:0000107
GAS2	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
GAS2	Human	apoptotic process	involved_in	TAS		150520179	PMID:9521882	PINC	PMID:9521882
GAS2	Human	basement membrane organization	acts_upstream_of_or_within	IEA	UniProtKB:P11862\|ensembl:ENSMUSP00000103217	150520179		Ensembl	GO_REF:0000107
GAS2	Human	initiation of primordial ovarian follicle growth	acts_upstream_of_or_within	IEA	UniProtKB:P11862\|ensembl:ENSMUSP00000103217	150520179		Ensembl	GO_REF:0000107
GAS2	Human	ovulation	acts_upstream_of_or_within	IEA	UniProtKB:P11862\|ensembl:ENSMUSP00000103217	150520179		Ensembl	GO_REF:0000107
GAS2	Human	regulation of cell cycle	involved_in	IEA	UniProtKB-KW:KW-0338	150520179		UniProt	GO_REF:0000043
GAS2	Human	regulation of cell shape	involved_in	IEA	UniProtKB-KW:KW-0133	150520179		UniProt	GO_REF:0000043
GAS2	Human	regulation of Notch signaling pathway	acts_upstream_of_or_within	IEA	UniProtKB:P11862\|ensembl:ENSMUSP00000103217	150520179		Ensembl	GO_REF:0000107

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)
GAS2	Human	actin filament	located_in	TAS		150520179	PMID:1607387	PINC	PMID:1607387
GAS2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
GAS2	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
GAS2	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-201639
GAS2	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
GAS2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GAS2	Human	stress fiber	located_in	IEA	UniProtKB-SubCell:SL-0501	150520179		UniProt	GO_REF:0000044

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)
GAS2	Human	actin filament binding	enables	IBA	PANTHER:PTN005319067\|UniProtKB:Q8NHY3\|dictyBase:DDB_G0269424	150520179		GO_Central	GO_REF:0000033
GAS2	Human	microtubule binding	enables	IEA	InterPro:IPR003108\|InterPro:IPR036534	150520179		InterPro	GO_REF:0000002
GAS2	Human	protein binding	enables	IPI	UniProtKB:Q8IYX1	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2	Human	Abnormal facial shape		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Abnormal vestibular function		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Childhood onset		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Congenital onset		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Delayed speech and language development		IAGP		8699517		HPO	MIM:620877\|PMID:33964205
GAS2	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:620877\|PMID:33964205

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2	Human	Intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

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

PMID:1056466	PMID:1607387	PMID:3409319	PMID:9521882	PMID:10564664	PMID:11337467	PMID:11387205	PMID:12477932	PMID:14702039	PMID:15124103	PMID:15489334	PMID:15817486
PMID:16344560	PMID:20677014	PMID:20679491	PMID:21546767	PMID:21832049	PMID:21873635	PMID:24465953	PMID:25925944	PMID:26358320	PMID:27085973	PMID:29987050	PMID:30021884
PMID:31528096	PMID:32296183	PMID:32457219	PMID:32572885	PMID:33103301	PMID:33964205	PMID:35944360	PMID:36054080	PMID:38956677

GAS2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	22,626,002 - 22,813,055 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	22,625,509 - 22,813,001 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	22,688,122 - 22,834,601 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	22,646,230 - 22,791,123 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	22,646,229 - 22,791,122	NCBI
Celera	11	22,822,041 - 22,968,405 (+)	NCBI		Celera
Cytogenetic Map	11	p14.3	NCBI
HuRef	11	22,371,075 - 22,517,950 (+)	NCBI		HuRef
CHM1_1	11	22,687,492 - 22,833,858 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	22,746,758 - 22,933,721 (+)	NCBI		T2T-CHM13v2.0

Gas2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	51,511,560 - 51,644,753 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	51,511,763 - 51,644,723 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	51,861,791 - 51,995,005 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	51,862,015 - 51,994,975 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	59,134,515 - 59,249,828 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	51,747,164 - 51,862,477 (+)	NCBI		MGSCv36	mm8
Celera	7	49,252,262 - 49,365,402 (+)	NCBI		Celera
Cytogenetic Map	7	B4	NCBI
cM Map	7	32.87	NCBI

Gas2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	110,587,952 - 110,721,572 (+)	NCBI		GRCr8
mRatBN7.2	1	101,452,361 - 101,582,619 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	101,482,591 - 101,582,619 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	106,891,445 - 106,991,464 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	115,363,339 - 115,463,358 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	108,666,556 - 108,766,696 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	107,234,389 - 107,363,624 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	107,262,659 - 107,363,788 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	108,275,144 - 108,405,240 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	101,697,265 - 101,798,495 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	95,649,226 - 95,749,292 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI

Gas2
(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_004955476	3,100,479 - 3,226,262 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955476	3,092,461 - 3,226,269 (+)	NCBI	ChiLan1.0	ChiLan1.0

GAS2
(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	9	24,914,966 - 25,099,422 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	24,879,135 - 25,065,347 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	22,639,677 - 22,822,208 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	22,547,301 - 22,729,241 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	22,583,367 - 22,729,243 (+)	Ensembl	panpan1.1		panPan2

GAS2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	44,277,996 - 44,406,210 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	44,286,531 - 44,405,060 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	43,753,331 - 43,880,913 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	45,395,215 - 45,524,757 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	45,372,654 - 45,524,740 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	44,395,431 - 44,522,737 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	44,567,541 - 44,695,231 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	44,960,441 - 45,088,773 (+)	NCBI		UU_Cfam_GSD_1.0

Gas2
(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_024404947	40,477,656 - 40,600,129 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936654	3,326,511 - 3,448,872 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936654	3,326,557 - 3,448,930 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GAS2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	36,711,612 - 36,885,620 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	36,712,758 - 36,885,436 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	39,823,080 - 39,928,195 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GAS2
(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	1	42,201,546 - 42,376,934 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666038	139,505,960 - 139,648,400 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gas2
(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_004624766	13,612,702 - 13,741,606 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624766	13,610,229 - 13,741,604 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GAS2
29 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	copy number loss	See cases [RCV000052647]	Chr11:22115602..25375696 [GRCh38] Chr11:22137148..25397242 [GRCh37] Chr11:22093724..25353818 [NCBI36] Chr11:11p14.3	pathogenic
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	copy number loss	See cases [RCV000052648]	Chr11:22550115..38199159 [GRCh38] Chr11:22571661..38220709 [GRCh37] Chr11:22528237..38177285 [NCBI36] Chr11:11p14.3-12	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
NM_001143830.1(GAS2):c.497T>C (p.Leu166Ser)	single nucleotide variant	Malignant melanoma [RCV000069301]	Chr11:22749143 [GRCh38] Chr11:22770689 [GRCh37] Chr11:22727265 [NCBI36] Chr11:11p14.3	not provided
NM_001143830.1(GAS2):c.637C>A (p.Pro213Thr)	single nucleotide variant	Malignant melanoma [RCV000062189]	Chr11:22755867 [GRCh38] Chr11:22777413 [GRCh37] Chr11:22733989 [NCBI36] Chr11:11p14.3	not provided
NM_001143830.1(GAS2):c.723+12527G>A	single nucleotide variant	Lung cancer [RCV000109933]	Chr11:22768480 [GRCh38] Chr11:22790026 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.1(GAS2):c.723+12931T>C	single nucleotide variant	Lung cancer [RCV000109934]	Chr11:22768884 [GRCh38] Chr11:22790430 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.1(GAS2):c.267+14662G>A	single nucleotide variant	Lung cancer [RCV000109931]	Chr11:22700451 [GRCh38] Chr11:22721997 [GRCh37] Chr11:11p14.3	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	copy number gain	See cases [RCV000137849]	Chr11:21838014..26738627 [GRCh38] Chr11:21859560..26760174 [GRCh37] Chr11:21816136..26716750 [NCBI36] Chr11:11p15.1-14.2	uncertain significance
GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	copy number loss	See cases [RCV000140704]	Chr11:22195749..22953436 [GRCh38] Chr11:22217295..22974982 [GRCh37] Chr11:22173871..22931558 [NCBI36] Chr11:11p14.3	uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	copy number loss	See cases [RCV000142499]	Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207141]	Chr11:22646794..22851268 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	copy number loss	Aniridia 1 [RCV000420782]	Chr11:18536224..31923308 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400]	Chr11:21586131..33168232 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3	copy number gain	not provided [RCV000585511]	Chr11:22026376..23809369 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	See cases [RCV000512225]	Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
Single allele	deletion	not provided [RCV000677987]	Chr11:22219999..22687901 [GRCh38] Chr11:22241544..22709446 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001143830.3(GAS2):c.487C>A (p.Pro163Thr)	single nucleotide variant	not specified [RCV004282496]	Chr11:22749133 [GRCh38] Chr11:22770679 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	copy number loss	not provided [RCV000848170]	Chr11:22024933..22717219 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	copy number loss	not provided [RCV000848171]	Chr11:22024933..22717219 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	copy number loss	not provided [RCV000849589]	Chr11:22079154..35597645 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p14.3(chr11:22668315-23047939)x1	copy number loss	not provided [RCV000848209]	Chr11:22668315..23047939 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	copy number gain	not provided [RCV000847535]	Chr11:21370750..23441691 [GRCh37] Chr11:11p15.1-14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1	copy number loss	not provided [RCV000846067]	Chr11:22619798..23441691 [GRCh37] Chr11:11p14.3	pathogenic
GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1	copy number loss	not provided [RCV001006394]	Chr11:22240672..22739036 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.477T>C (p.Tyr159=)	single nucleotide variant	not provided [RCV000962118]	Chr11:22749123 [GRCh38] Chr11:22770669 [GRCh37] Chr11:11p14.3	benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	copy number gain	not provided [RCV001006387]	Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13	pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	copy number gain	not provided [RCV001006388]	Chr11:13970757..27565888 [GRCh37] Chr11:11p15.2-14.1	pathogenic
GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3	copy number gain	not provided [RCV001006395]	Chr11:22290214..23743998 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22501364-22701957)x3	copy number gain	not provided [RCV001259576]	Chr11:22501364..22701957 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22711002-22981254)x3	copy number gain	not provided [RCV001836516]	Chr11:22711002..22981254 [GRCh37] Chr11:11p14.3	likely benign
GRCh37/hg19 11p14.3(chr11:22469479-22724326)	copy number gain	not specified [RCV002052918]	Chr11:22469479..22724326 [GRCh37] Chr11:11p14.3	uncertain significance
NC_000011.10:g.22626004A>G	single nucleotide variant	not provided [RCV001643271]	Chr11:22626004 [GRCh38] Chr11:22647550 [GRCh37] Chr11:11p14.3	benign
NC_000011.10:g.22626136_22626140dup	duplication	not provided [RCV001669838]	Chr11:22626135..22626136 [GRCh38] Chr11:22647681..22647682 [GRCh37] Chr11:11p14.3	benign
NM_001143830.3(GAS2):c.311C>T (p.Ser104Leu)	single nucleotide variant	not specified [RCV004290766]	Chr11:22726335 [GRCh38] Chr11:22747881 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	See cases [RCV002286351]	Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2	pathogenic
GRCh37/hg19 11p14.3(chr11:22678758-23584615)x1	copy number loss	See cases [RCV002292392]	Chr11:22678758..23584615 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.245T>A (p.Met82Lys)	single nucleotide variant	not specified [RCV004322695]	Chr11:22685767 [GRCh38] Chr11:22707313 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22582555-23040011)x3	copy number gain	not provided [RCV002473567]	Chr11:22582555..23040011 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22501365-22701807)x3	copy number gain	not provided [RCV002475644]	Chr11:22501365..22701807 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.869C>G (p.Thr290Ser)	single nucleotide variant	not specified [RCV004212533]	Chr11:22811943 [GRCh38] Chr11:22833489 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.916T>G (p.Tyr306Asp)	single nucleotide variant	not specified [RCV004185419]	Chr11:22811990 [GRCh38] Chr11:22833536 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.880A>G (p.Met294Val)	single nucleotide variant	not specified [RCV004208988]	Chr11:22811954 [GRCh38] Chr11:22833500 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.574T>C (p.Ser192Pro)	single nucleotide variant	not specified [RCV004096346]	Chr11:22749220 [GRCh38] Chr11:22770766 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1	copy number loss	not specified [RCV003986916]	Chr11:22207494..22985845 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.53T>C (p.Met18Thr)	single nucleotide variant	not specified [RCV004394975]	Chr11:22674922 [GRCh38] Chr11:22696468 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.847C>T (p.Pro283Ser)	single nucleotide variant	not specified [RCV004394977]	Chr11:22811921 [GRCh38] Chr11:22833467 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.723+1G>A	single nucleotide variant	Hearing loss, autosomal recessive 125 [RCV004585108]	Chr11:22755954 [GRCh38] Chr11:22777500 [GRCh37] Chr11:11p14.3	pathogenic
NM_001143830.3(GAS2):c.160G>A (p.Ala54Thr)	single nucleotide variant	not specified [RCV004394974]	Chr11:22685682 [GRCh38] Chr11:22707228 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.560C>G (p.Ser187Cys)	single nucleotide variant	not specified [RCV004394976]	Chr11:22749206 [GRCh38] Chr11:22770752 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.228G>T (p.Glu76Asp)	single nucleotide variant	not specified [RCV004634527]	Chr11:22685750 [GRCh38] Chr11:22707296 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.46T>A (p.Ser16Thr)	single nucleotide variant	not specified [RCV004634526]	Chr11:22674915 [GRCh38] Chr11:22696461 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p14.3-12(chr11:22428384-37196643)x1	copy number loss	not provided [RCV004819367]	Chr11:22428384..37196643 [GRCh37] Chr11:11p14.3-12	pathogenic
GRCh37/hg19 11p15.1-12(chr11:17120358-41424289)x1	copy number loss	not provided [RCV004819366]	Chr11:17120358..41424289 [GRCh37] Chr11:11p15.1-12	pathogenic
NM_001143830.3(GAS2):c.860A>G (p.Lys287Arg)	single nucleotide variant	not specified [RCV004924434]	Chr11:22811934 [GRCh38] Chr11:22833480 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.653C>A (p.Pro218Gln)	single nucleotide variant	not specified [RCV004924435]	Chr11:22755883 [GRCh38] Chr11:22777429 [GRCh37] Chr11:11p14.3	uncertain significance
NM_001143830.3(GAS2):c.655A>T (p.Asn219Tyr)	single nucleotide variant	not specified [RCV004353439]	Chr11:22755885 [GRCh38] Chr11:22777431 [GRCh37] Chr11:11p14.3	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001143830.3(GAS2):c.533C>T (p.Thr178Ile)	single nucleotide variant	Hearing loss, autosomal recessive 125 [RCV004798694]	Chr11:22749179 [GRCh38] Chr11:22770725 [GRCh37] Chr11:11p14.3	likely pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	1811
Count of miRNA genes:	678
Interacting mature miRNAs:	772
Transcripts:	ENST00000278187, ENST00000433790, ENST00000454584, ENST00000524701, ENST00000526665, ENST00000528582, ENST00000532398, ENST00000533092, ENST00000533363, ENST00000534801
Prediction methods:	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
1576345	LVC1_H	Left ventricular contractility QTL 1 (human)	3.93		Left ventricular contractility		11	7970767	33970767	Human
597335672	GWAS1431746_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1431746 (human)		9e-09	severe acute respiratory syndrome, COVID-19		11	22788742	22788743	Human
2289313	BW388_H	Body weight QTL 388 (human)	1.57	0.00356	Body fat amount	abdominal	11	4434671	30434671	Human
1559107	SCL32_H	Serum cholesterol level QTL 32 (human)	3.27		Lipid level	LDL cholesterol	11	2892430	28892430	Human
597620426	GWAS1677286_H	hearing loss QTL GWAS1677286 (human)		1e-11	hearing loss		11	22800137	22800138	Human
597054179	GWAS1150253_H	intelligence QTL GWAS1150253 (human)		0.000002	intelligence		11	22761209	22761210	Human
1559104	SCL15_H	Serum cholesterol level QTL 15 (human)	2.6	0.06	Lipid level	hyperlipidemia susceptibility	11	15892368	41892368	Human
597433332	GWAS1529406_H	protein measurement QTL GWAS1529406 (human)		3e-11	protein measurement		11	22810510	22810511	Human
597341011	GWAS1437085_H	breast density QTL GWAS1437085 (human)		0.000005	breast density		11	22802011	22802012	Human
407049001	GWAS697977_H	chronic kidney disease QTL GWAS697977 (human)		0.000002	chronic kidney disease		11	22808211	22808212	Human
1559113	SCL31_H	Serum cholesterol level QTL 31 (human)	3.72		Lipid level	LDL cholesterol	11	2892430	28892430	Human

RH121950

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,747,644 - 22,747,914	UniSTS	GRCh37
Build 36	11	22,704,220 - 22,704,490	RGD	NCBI36
Celera	11	22,881,501 - 22,881,771	RGD
Cytogenetic Map	11	p14.3	UniSTS
HuRef	11	22,430,546 - 22,430,816	UniSTS
TNG Radiation Hybrid Map	11	10865.0	UniSTS

D11S3519

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,821,222 - 22,821,346	UniSTS	GRCh37
Build 36	11	22,777,798 - 22,777,922	RGD	NCBI36
Celera	11	22,955,078 - 22,955,202	RGD
Cytogenetic Map	11	p14.3	UniSTS

SHGC-105084

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,714,827 - 22,715,139	UniSTS	GRCh37
Build 36	11	22,671,403 - 22,671,715	RGD	NCBI36
Celera	11	22,848,681 - 22,848,993	RGD
Cytogenetic Map	11	p14.3	UniSTS
HuRef	11	22,397,717 - 22,398,029	UniSTS
TNG Radiation Hybrid Map	11	10857.0	UniSTS

SHGC-105087

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,714,943 - 22,715,288	UniSTS	GRCh37
Build 36	11	22,671,519 - 22,671,864	RGD	NCBI36
Celera	11	22,848,797 - 22,849,142	RGD
Cytogenetic Map	11	p14.3	UniSTS
HuRef	11	22,397,833 - 22,398,178	UniSTS
TNG Radiation Hybrid Map	11	10854.0	UniSTS

GAS2_660

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,833,808 - 22,834,587	UniSTS	GRCh37
Build 36	11	22,790,384 - 22,791,163	RGD	NCBI36
Celera	11	22,967,663 - 22,968,445	RGD
HuRef	11	22,517,208 - 22,517,990	UniSTS

RH68529

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	22,822,778 - 22,822,956	UniSTS	GRCh37
Build 36	11	22,779,354 - 22,779,532	RGD	NCBI36
Celera	11	22,956,634 - 22,956,812	RGD
Cytogenetic Map	11	p14.3	UniSTS
HuRef	11	22,506,179 - 22,506,357	UniSTS
GeneMap99-GB4 RH Map	11	83.89	UniSTS

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

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
1204	2422	2787	2238	4924	1717	2314	4	619	1808	460	2261	7127	6313	47	3698	835	1691	1583	165


RefSeq Transcripts	NM_001143830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001351224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001391937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_177553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_147085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519975	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426750	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368382	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368392	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006299	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC103801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI374985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU099094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR450285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA345287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U95032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000278187 ⟹ ENSP00000278187

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,668,108 - 22,812,996 (+)	Ensembl

Ensembl Acc Id:

ENST00000454584 ⟹ ENSP00000401145

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,666,611 - 22,813,001 (+)	Ensembl

Ensembl Acc Id:

ENST00000524701 ⟹ ENSP00000432026

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,668,108 - 22,813,001 (+)	Ensembl

Ensembl Acc Id:

ENST00000526665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,755,648 - 22,755,953 (+)	Ensembl

Ensembl Acc Id:

ENST00000528582 ⟹ ENSP00000432584

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,625,642 - 22,749,190 (+)	Ensembl

Ensembl Acc Id:

ENST00000532398 ⟹ ENSP00000435946

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,674,773 - 22,749,261 (+)	Ensembl

Ensembl Acc Id:

ENST00000533092

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,666,583 - 22,702,630 (+)	Ensembl

Ensembl Acc Id:

ENST00000533363 ⟹ ENSP00000434478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,667,076 - 22,726,432 (+)	Ensembl

Ensembl Acc Id:

ENST00000534801 ⟹ ENSP00000433182

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,672,577 - 22,737,760 (+)	Ensembl

Ensembl Acc Id:

ENST00000630668 ⟹ ENSP00000485708

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,668,108 - 22,731,347 (+)	Ensembl

Ensembl Acc Id:

ENST00000648096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	22,625,509 - 22,626,403 (+)	Ensembl

RefSeq Acc Id:

NM_001143830 ⟹ NP_001137302

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,001 (+)	NCBI
GRCh37	11	22,688,160 - 22,834,547 (+)	RGD
Celera	11	22,822,041 - 22,968,405 (+)	RGD
HuRef	11	22,371,075 - 22,517,950 (+)	ENTREZGENE
CHM1_1	11	22,687,492 - 22,833,858 (+)	NCBI
T2T-CHM13v2.0	11	22,787,272 - 22,933,667 (+)	NCBI

Sequence:

show sequence

AGCATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGGAGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGT
GCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACCTGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTG
AGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTA
GCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTG
TCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAG
ACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGC
CGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAA
GAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCT
TCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACA
TCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTC
ATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATT
TTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACA
CAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCT
TTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAA
AGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCT
GAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTA
TTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATA
AACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001351224 ⟹ NP_001338153

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,787,272 - 22,933,667 (+)	NCBI

Sequence:

show sequence

AGCATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGG
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGC
TCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATC
TATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAG
AATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGA
ATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAAC
AAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGC
CCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGACCATATAGACATTTGGCATGTCATTTTATGCTGCACAACAAACATGTCATGGTCC
GTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGAC
ATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGT
TTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAA
AATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTT
AGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGT
GATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATA
TCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAAT
TCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTAT
GCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTA
AAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001391933 ⟹ NP_001378862

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,668,696 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,789,357 - 22,933,667 (+)	NCBI

Sequence:

show sequence

ACTTAGAAATCTTACTTCAAGACTGGAAGTCTGCATTGAAGACTCAGGGAAACTTTGGAAAACT
AAGTTACCTTGGTTGAGAAGGCATGATGAGGCTGTAACTGTTTACAGAGAGACTTTTGTTTAAAACTGCAGGGCATGTTGTAAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAG
GTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGA
GATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGA
AGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTG
GTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACT
TTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCT
GTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGGGTCTTCATGGTTGTGACTATATCTCCACAGCCAAAGCAAAGCAGACATTTAAGATGCTGCACAACAAA
CATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCC
AACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTC
CAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGA
CCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAA
GGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAA
TGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCT
GCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAAT
GATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAAT
CCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACT
CATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001391934 ⟹ NP_001378863

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,787,272 - 22,933,667 (+)	NCBI

Sequence:

show sequence

AGCATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGG
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTGAGCACGACTGGCTGGCCCAGTTCTGCGC
CAACGCCGCCGCAGCGTGCGCGCACCGCAGCCGGGGCTCACGGGAGCCCCTGCCTGTCTACTGCACCCGGGGCGGCGGGGGAGGGGAGAGGTCATTAAAAAATAACCTCAGGAACGAGGCGGGGAAGA
GTGAAGAGCCGCGGACAGTTGGACAGGCTCTTTCTCTAAGAGTGGGTATTCACTGCAGGGGGTGACTTTCTGATTCTCTGGAAACAACCATGTGTTCCTTATCCCTATTGCGGAACACCCCGGACAAC
CGCAGCACGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGC
TACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAG
AAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTG
GTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGG
AGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGAT
GCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACAAACA
TGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAA
CTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCA
GTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACC
TATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGG
AGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATG
ATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGC
CTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGA
TCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCC
TATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCA
TTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001391935 ⟹ NP_001378864

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,672,616 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,793,265 - 22,933,667 (+)	NCBI

Sequence:

show sequence

ACTTTCAGGAAAGTAGTGGAAGAGATTGTGTCTTGAGAAGACAGGCATTTTAGAGGTATTACAA
GTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGAT
CTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCAT
GGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGG
TGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATA
AAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTC
TGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGG
GAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAAT
CCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTT
CATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTA
AACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATT
TGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAAT
GTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTT
ATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATAC
ATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTC
TAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGA
TAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001391936 ⟹ NP_001378865

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,668,696 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,789,357 - 22,933,667 (+)	NCBI

Sequence:

show sequence

ACTTAGAAATCTTACTTCAAGACTGGAAGTCTGCATTGAAGACTCAGGGAAACTTTGGAAAACT
AAGTTACCTTGGTTGAGAAGGCATGATGAGGCTGTAACTGTTTACAGAGAGACTTTTGTTTAAAACTGCAGGGCATGTTGTAAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAG
GTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGA
GATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGA
AGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTG
GTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACT
TTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCT
GTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTG
AAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAA
GGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGA
CAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAAT
TATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACAC
TCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAA
GTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGT
TTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAA
TTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTAC
AGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_001391937 ⟹ NP_001378866

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,576 - 22,813,001 (+)	NCBI
T2T-CHM13v2.0	11	22,787,237 - 22,933,667 (+)	NCBI

Sequence:

show sequence

AGTGTCAACTGCATTTGCGTCCACCAAAAAAAGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAG
CCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGT
CAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGA
CAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCC
GGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAG
AGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTT
CATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACAT
CCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCA
TAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTT
TTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACAC
AATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTT
TTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAA
GTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTG
AGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTAT
TAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAA
ACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_005256 ⟹ NP_005247

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,674,774 - 22,813,001 (+)	NCBI
GRCh37	11	22,688,160 - 22,834,547 (+)	RGD
Build 36	11	22,652,931 - 22,791,123 (+)	NCBI Archive
Celera	11	22,822,041 - 22,968,405 (+)	RGD
HuRef	11	22,371,075 - 22,517,950 (+)	ENTREZGENE
CHM1_1	11	22,695,640 - 22,833,858 (+)	NCBI
T2T-CHM13v2.0	11	22,795,424 - 22,933,667 (+)	NCBI

Sequence:

show sequence

ATTATAATGTCATGATGACAACATTTTGTGAGAGAAGTCTGTATAAAAAGCAATTGCTCTTTTG
TTTCCAAAACAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAAT
TTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCA
GGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTAT
CCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGT
GTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGA
TGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACA
AACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCT
CCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTC
TCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATAT
GACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAAT
AAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAA
AATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGG
CTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGA
ATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTA
ATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTA
CTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NM_177553 ⟹ NP_808221

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,668,108 - 22,813,001 (+)	NCBI
GRCh37	11	22,688,160 - 22,834,547 (+)	RGD
Build 36	11	22,646,230 - 22,791,123 (+)	NCBI Archive
Celera	11	22,822,041 - 22,968,405 (+)	RGD
HuRef	11	22,371,075 - 22,517,950 (+)	ENTREZGENE
CHM1_1	11	22,688,986 - 22,833,858 (+)	NCBI
T2T-CHM13v2.0	11	22,788,769 - 22,933,667 (+)	NCBI

Sequence:

show sequence

GAGATTCACAGAGGCAAGGCAGAGAACAAGACCTGTGCTTCTTTACTCCAAACTCTTAGCAGTG
TGGACACTGATTAACTGCAGCTGGGGTCTGATTTGCCCAGCCTGTCTTTGATATTGATCAATGAACTCCTTCTCAAGGAATGCTTTCCTCTAACTGCGGTGAAGGTGGTGGCTCTGGTGGTTCTCTCC
AACATGGGTGTCTGGGTTTTGACTGCCTAAGAGAAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGG
CTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCT
CTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCA
GAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTT
GGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAA
AAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCC
TCTTCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAA
ACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACC
CTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTT
ATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAA
ACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTAT
GCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCG
AAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATT
CCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTC
TTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCA
ATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

hide sequence

RefSeq Acc Id:

NR_147085

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,055 (+)	NCBI
T2T-CHM13v2.0	11	22,787,272 - 22,933,721 (+)	NCBI

Sequence:

show sequence

AGCATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGG
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTGAGCACGACTGGCTGGCCCAGTTCTGCGC
CAACGCCGCCGCAGCGTGCGCGCACCGCAGCCGGGGCTCACGGGAGCCCCTGCCTGTCTACTGCACCCGGGGCGGCGGGGGAGGGGAGAGGTCATTAAAAAATAACCTCAGGAACGAGGCGGGGAAGA
GTGAAGAGCCGCGGACAGTTGGACAGGCTCTTTCTCTAAGAGTGGGTATTCACTGCAGGGGGTGACTTTCTGATTCTCTGGAAACAACCATGTGTTCCTTATCCCTATTGCGGAACACCCCGGACAAC
CGCAGCACGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGC
TACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAG
AAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTG
GTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGG
AGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGAT
GCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGGGGAAACTGAGACA
CTGAGGTTGAGTAACTTCTCAAAGTTCTAAGGTGAAAAAATAAAGTCTTAGAGAAGTTCTTAAACCATATAGACATTTGGCATGTCATTTTATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAG
GAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCA
GATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCAT
ATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAAC
TCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGC
AGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTG
CTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATC
TATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATG
AGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAG
TAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAA
ATTTTAAAAATGTTATCTGTCTCTAAATCAATGCCTCATTCTGAAATCAAGTTAATTTTCAAATGGCAA

hide sequence

RefSeq Acc Id:

XM_011519971 ⟹ XP_011518273

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,055 (+)	NCBI

Sequence:

show sequence

ATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGGAGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCG
GCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACCTGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGA
GCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCC
AGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCA
ACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACA
ATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGG
ATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAG
TACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCA
TTAGGGGTCTTCATGGTTGTGACTATATCTCCACAGCCAAAGCAAAGCAGACATTTAAGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTG
AAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAA
GGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGA
CAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAAT
TATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACAC
TCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAA
GTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGT
TTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAA
TTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTAC
AGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAA

hide sequence

RefSeq Acc Id:

XM_011519972 ⟹ XP_011518274

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,626,002 - 22,813,055 (+)	NCBI

Sequence:

show sequence

CAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGGAAAATGGAAAAAAAAAGGAAAAGAAACCAACTTTTCAGTTGAAAGTTCAAAGCTGAGTGTTCAGAGGAGCCTTCAAGGCTACAGGAATCCTTAA
TTTTTTTTGCAGGTATCTGAGTTGAAAGAACCAGGCCTATTTAAGGAGGTGGAAAAAATCCAAAAAAGCTTTGATTCAGAATGGGGATGACAGTGTATGGCAAGAATTATGCAGATTAACTTTAGCTT
CATACCTTTCTACTTATCTGTTTAAATCTTGATTTTAAATTCTTCCTTGAGCATAGTAACGTATAAACTCCTACATATTTCAGATTAGTCTATTTTCATTAAATAAAATGTCTATGAAGTTTCCCCCT
CTAAAGAAAGAAAAGCCTAGCATTTCAACCTATATTCTTGAGGCAGGGTGGGGAGGGATACAAAAACTTAATTATAATGCAAAGCAGATTTTATATATTTTGAAAATTTTAAGAATTTTGCTATGAGA
GACTAGATAGAAACTGACAGGAGAGTTCTGGGAAGACTACAGAGGACTGATACTTGATTTAGGCCTCAAAGTGTTTGAACAATCATGGGACAGAAGAAAATCCAAGTGAGAGAAATAATATAAGGTAT
TACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAG
AAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAG
AGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTT
AGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTT
TGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGA
ATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGGGTCTTCATGGTTGTGACTATATCTCCAC
AGCCAAAGCAAAGCAGACATTTAAGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCC
GTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTC
ATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAA
GAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGA
ACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAAT
TGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGG
AAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAG
TTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTAT
TTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGG
GCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAA

hide sequence

RefSeq Acc Id:

XM_011519975 ⟹ XP_011518277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,761,816 (+)	NCBI

Sequence:

show sequence

ATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGGAGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCG
GCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACCTGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGA
GCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCC
AGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCA
ACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACA
ATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGG
ATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAG
TACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCA
TTAGGATGGGGAAACTGAGACACTGAGGTTGAGTAACTTCTCAAAGTTCTAAGGT

hide sequence

RefSeq Acc Id:

XM_047426744 ⟹ XP_047282700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,055 (+)	NCBI

RefSeq Acc Id:

XM_047426745 ⟹ XP_047282701

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,626,002 - 22,813,055 (+)	NCBI

RefSeq Acc Id:

XM_047426746 ⟹ XP_047282702

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,626,002 - 22,813,055 (+)	NCBI

RefSeq Acc Id:

XM_047426747 ⟹ XP_047282703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,813,055 (+)	NCBI

RefSeq Acc Id:

XM_047426749 ⟹ XP_047282705

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,766,434 (+)	NCBI

RefSeq Acc Id:

XM_047426750 ⟹ XP_047282706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,611 - 22,766,434 (+)	NCBI

RefSeq Acc Id:

XM_054368382 ⟹ XP_054224357

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,272 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368383 ⟹ XP_054224358

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,272 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368384 ⟹ XP_054224359

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,748,704 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368385 ⟹ XP_054224360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,748,704 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368386 ⟹ XP_054224361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,276 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368387 ⟹ XP_054224362

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,746,758 - 22,933,721 (+)	NCBI

RefSeq Acc Id:

XM_054368390 ⟹ XP_054224365

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,272 - 22,887,069 (+)	NCBI

RefSeq Acc Id:

XM_054368391 ⟹ XP_054224366

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,272 - 22,887,069 (+)	NCBI

RefSeq Acc Id:

XM_054368392 ⟹ XP_054224367

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	22,787,272 - 22,882,460 (+)	NCBI


Protein RefSeqs	NP_001137302	(Get FASTA)	NCBI Sequence Viewer
	NP_001338153	(Get FASTA)	NCBI Sequence Viewer
	NP_001378862	(Get FASTA)	NCBI Sequence Viewer
	NP_001378863	(Get FASTA)	NCBI Sequence Viewer
	NP_001378864	(Get FASTA)	NCBI Sequence Viewer
	NP_001378865	(Get FASTA)	NCBI Sequence Viewer
	NP_001378866	(Get FASTA)	NCBI Sequence Viewer
	NP_005247	(Get FASTA)	NCBI Sequence Viewer
	NP_808221	(Get FASTA)	NCBI Sequence Viewer
	XP_011518273	(Get FASTA)	NCBI Sequence Viewer
	XP_011518274	(Get FASTA)	NCBI Sequence Viewer
	XP_011518277	(Get FASTA)	NCBI Sequence Viewer
	XP_047282700	(Get FASTA)	NCBI Sequence Viewer
	XP_047282701	(Get FASTA)	NCBI Sequence Viewer
	XP_047282702	(Get FASTA)	NCBI Sequence Viewer
	XP_047282703	(Get FASTA)	NCBI Sequence Viewer
	XP_047282705	(Get FASTA)	NCBI Sequence Viewer
	XP_047282706	(Get FASTA)	NCBI Sequence Viewer
	XP_054224357	(Get FASTA)	NCBI Sequence Viewer
	XP_054224358	(Get FASTA)	NCBI Sequence Viewer
	XP_054224359	(Get FASTA)	NCBI Sequence Viewer
	XP_054224360	(Get FASTA)	NCBI Sequence Viewer
	XP_054224361	(Get FASTA)	NCBI Sequence Viewer
	XP_054224362	(Get FASTA)	NCBI Sequence Viewer
	XP_054224365	(Get FASTA)	NCBI Sequence Viewer
	XP_054224366	(Get FASTA)	NCBI Sequence Viewer
	XP_054224367	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC52058	(Get FASTA)	NCBI Sequence Viewer
	AAH05077	(Get FASTA)	NCBI Sequence Viewer
	AAH13326	(Get FASTA)	NCBI Sequence Viewer
	AAH40470	(Get FASTA)	NCBI Sequence Viewer
	BAG36475	(Get FASTA)	NCBI Sequence Viewer
	CAG29281	(Get FASTA)	NCBI Sequence Viewer
	EAW68317	(Get FASTA)	NCBI Sequence Viewer
	EAW68318	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000278187
	ENSP00000278187.3
	ENSP00000401145
	ENSP00000401145.2
	ENSP00000432026.1
	ENSP00000435946
	ENSP00000485708.1
GenBank Protein	O43903	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001137302 ⟸ NM_001143830
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNGALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKSSGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGW ETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK hide sequence

RefSeq Acc Id:	NP_808221 ⟸ NM_177553
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK hide sequence

RefSeq Acc Id:	NP_005247 ⟸ NM_005256
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNGALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKSSGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGW ETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK hide sequence

RefSeq Acc Id:

XP_011518274 ⟸ XM_011519972

- Peptide Label:

isoform X1

- Sequence:

show sequence

MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG
ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS
SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRGLHGCDYISTAKAKQTFKMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVV
SASYKAKKEIK

hide sequence

RefSeq Acc Id:

XP_011518273 ⟸ XM_011519971

- Peptide Label:

isoform X1

- Sequence:

show sequence

MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG
ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS
SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRGLHGCDYISTAKAKQTFKMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVV
SASYKAKKEIK

hide sequence

Protein Domains

Calponin-homology (CH) GAR

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43903-F1-model_v2	AlphaFold	O43903	1-313	view protein structure

RGD ID:

7219861

Promoter ID:

EPDNEW_H15676

Type:

initiation region

Name:

GAS2_4

Description:

growth arrest specific 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15678 EPDNEW_H15677 EPDNEW_H15679

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,625,598 - 22,625,658	EPDNEW

RGD ID:

6788959

Promoter ID:

HG_KWN:12495

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC009YIE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	22,644,769 - 22,645,269 (+)	MPROMDB

RGD ID:

6788957

Promoter ID:

HG_KWN:12496

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC001MQM.1, UC001MQN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	22,645,281 - 22,646,482 (+)	MPROMDB

RGD ID:

6788958

Promoter ID:

HG_KWN:12497

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC001MQO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	22,652,846 - 22,653,346 (+)	MPROMDB

RGD ID:

7219865

Promoter ID:

EPDNEW_H15677

Type:

initiation region

Name:

GAS2_3

Description:

growth arrest specific 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15676 EPDNEW_H15678 EPDNEW_H15679

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,666,620 - 22,666,680	EPDNEW

RGD ID:

7219863

Promoter ID:

EPDNEW_H15678

Type:

initiation region

Name:

GAS2_1

Description:

growth arrest specific 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15676 EPDNEW_H15677 EPDNEW_H15679

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,668,108 - 22,668,168	EPDNEW

RGD ID:

7219867

Promoter ID:

EPDNEW_H15679

Type:

initiation region

Name:

GAS2_2

Description:

growth arrest specific 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15676 EPDNEW_H15678 EPDNEW_H15677

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	22,674,848 - 22,674,908	EPDNEW

Database	Acc Id	Source(s)
COSMIC	GAS2	COSMIC
Ensembl Genes	ENSG00000148935	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000278187	ENTREZGENE
	ENST00000278187.7	UniProtKB/Swiss-Prot
	ENST00000454584	ENTREZGENE
	ENST00000454584.7	UniProtKB/Swiss-Prot
	ENST00000524701.5	UniProtKB/Swiss-Prot
	ENST00000532398	ENTREZGENE
	ENST00000630668.2	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.418.10	UniProtKB/Swiss-Prot
	3.30.920.20	UniProtKB/Swiss-Prot
GTEx	ENSG00000148935	GTEx
HGNC ID	HGNC:4167	ENTREZGENE
Human Proteome Map	GAS2	Human Proteome Map
InterPro	CH-domain	UniProtKB/Swiss-Prot
	CH_dom_sf	UniProtKB/Swiss-Prot
	GAR_dom	UniProtKB/Swiss-Prot
	GAR_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:2620	UniProtKB/Swiss-Prot
NCBI Gene	2620	ENTREZGENE
OMIM	602835	OMIM
PANTHER	PTHR46756:SF9	UniProtKB/Swiss-Prot
	TRANSGELIN	UniProtKB/Swiss-Prot
Pfam	GAS2	UniProtKB/Swiss-Prot
	PF00307	UniProtKB/Swiss-Prot
PharmGKB	PA28580	PharmGKB
PROSITE	GAR	UniProtKB/Swiss-Prot
	PS50021	UniProtKB/Swiss-Prot
SMART	GAS2	UniProtKB/Swiss-Prot
	SM00033	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF143575	UniProtKB/Swiss-Prot
	SSF47576	UniProtKB/Swiss-Prot
UniProt	B2R9C8	ENTREZGENE
	D3DQZ0	ENTREZGENE
	E9PM28_HUMAN	UniProtKB/TrEMBL
	E9PQ37_HUMAN	UniProtKB/TrEMBL
	E9PQ74_HUMAN	UniProtKB/TrEMBL
	E9PRR5	ENTREZGENE, UniProtKB/TrEMBL
	GAS2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6ICV8	ENTREZGENE
	Q7Z3X8	ENTREZGENE
UniProt Secondary	B2R9C8	UniProtKB/Swiss-Prot
	D3DQZ0	UniProtKB/Swiss-Prot
	Q6ICV8	UniProtKB/Swiss-Prot
	Q7Z3X8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	GAS2	growth arrest specific 2	GAS2	growth arrest-specific 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
		Excel (Download)

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar