GAS2 (growth arrest specific 2) - Rat Genome Database

Name: GAS2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: GAS2 (growth arrest specific 2) Homo sapiens

Analyze

Symbol:

GAS2

Name:

growth arrest specific 2

RGD ID:

1348959

HGNC Page

HGNC:4167

Description:

Predicted to enable actin filament binding activity and cytoskeletal anchor 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 cytosol. Predicted to be active in actin filament.

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

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenoid cystic carcinoma (EXP)

Autosomal Recessive Nonsyndromic Deafness 125 (IAGP)

intellectual disability (IAGP)

Salivary Gland Neoplasms (EXP)

sensorineural hearing loss (ISS)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,5-hexanedione (ISO)

3',5'-cyclic UMP (EXP)

3-isobutyl-1-methyl-7H-xanthine (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

aristolochic acid A (ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

Benoxacor (ISO)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

C60 fullerene (ISO)

caffeine (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cocaine (ISO)

copper(II) sulfate (EXP)

crocidolite asbestos (ISO)

cyclophosphamide (EXP)

cyclosporin A (EXP,ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

emodin (EXP)

endosulfan (ISO)

ethyl methanesulfonate (EXP)

fipronil (ISO)

flutamide (ISO)

folic acid (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

malathion (EXP)

methapyrilene (ISO)

methimazole (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

N(4)-hydroxycytidine (ISO)

N-methylformamide (ISO)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nickel dichloride (ISO)

paracetamol (EXP,ISO)

perfluorononanoic acid (EXP)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (ISO)

pyrazinecarboxamide (ISO)

quercetin (EXP)

SB 431542 (EXP)

silicon dioxide (ISO)

sodium arsenite (ISO)

sodium fluoride (ISO)

sulfadimethoxine (ISO)

sunitinib (EXP)

tert-butyl hydroperoxide (ISO)

testosterone (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

triadimefon (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

tris(2-butoxyethyl) phosphate (EXP)

trovafloxacin (ISO)

tunicamycin (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vancomycin (ISO)

venlafaxine hydrochloride (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin crosslink formation (IBA)

antral ovarian follicle growth (IEA,ISO)

apoptotic process (IEA,TAS)

basement membrane organization (IEA,ISO)

initiation of primordial ovarian follicle growth (IEA,ISO)

ovulation (IEA,ISO)

regulation of cell cycle (IEA)

regulation of cell shape (IEA)

regulation of Notch signaling pathway (IEA,ISO)

Cellular Component

actin filament (IBA,TAS)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (TAS)

membrane (IEA)

stress fiber (IEA)

Molecular Function

actin filament binding (IBA)

microtubule binding (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

References

References - curated

#	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

Additional References at PubMed

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

Genomics

Comparative Map Data

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

Variants in GAS2
21 total Variants

Clinical 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
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.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
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 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

miRNA Target Status

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1576345	LVC1_H	Left ventricular contractility QTL 1 (human)	3.93		Left ventricular contractility		11	7970767	33970767	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
1559104	SCL15_H	Serum cholesterol level QTL 15 (human)	2.6	0.06	Lipid level	hyperlipidemia susceptibility	11	15892368	41892368	Human
407281185	GWAS930161_H	body height QTL GWAS930161 (human)		9e-09	body height (VT:0001253)	body height (CMO:0000106)	11	22709359	22709360	Human
406939112	GWAS588088_H	intelligence QTL GWAS588088 (human)		0.000002	intelligence		11	22761209	22761210	Human
406963835	GWAS612811_H	severe acute respiratory syndrome, COVID-19 QTL GWAS612811 (human)		9e-09	severe acute respiratory syndrome, COVID-19		11	22788742	22788743	Human
406940123	GWAS589099_H	gut microbiome measurement QTL GWAS589099 (human)		0.000004	gut microbiome measurement		11	22795969	22795970	Human
407049001	GWAS697977_H	chronic kidney disease QTL GWAS697977 (human)		0.000002	chronic kidney disease		11	22808211	22808212	Human
406945802	GWAS594778_H	breast density QTL GWAS594778 (human)		0.000005	breast density		11	22802011	22802012	Human
1559113	SCL31_H	Serum cholesterol level QTL 31 (human)	3.72		Lipid level	LDL cholesterol	11	2892430	28892430	Human

Markers in Region

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

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2422	2787	2238	4924	1717	2314	4	619	1808	460	2261	7127	6313	47	3698	835	1691	1583	165

Sequence

Nucleotide Sequences


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

AGCATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGG
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGT
GCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTG
AGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGC
TCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTA
GCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATC
TATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTG
TCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAG
AATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAG
ACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGA
ATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGC
CGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAAC
AAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAA
GAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGC
CCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCT
TCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGC
AGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACA
TCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCT
CTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTC
ATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTT
GGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATT
TTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAA
ATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACA
CAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGT
GCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCT
TTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACA
GCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAA
AGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGG
TACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCT
GAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATAC
TTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTA
TTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAG
CTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATA
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
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGT
GCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTG
AGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGC
TCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTA
GCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATC
TATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTG
TCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAG
AATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAG
ACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGA
ATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGC
CGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAAC
AAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAA
GAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGC
CCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCT
TCATTAGGACCATATAGACATTTGGCATGTCATTTTATGCTGCACAACAAACATGTCATGGTCC
GTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCT
GCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGAC
ATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAA
ACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGT
TTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAA
AAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAA
AATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACA
CAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTT
AGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGAC
ATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGT
GATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAA
TATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATA
TCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAA
TAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAAT
TCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGA
TTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTAT
GCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATA
CCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTA
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
AAGTTACCTTGGTTGAGAAGGCATGATGAGGCTGTAACTGTTTACAGAGAGACTTTTGTTTAAA
ACTGCAGGGCATGTTGTAAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAG
GTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATG
AAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGA
GATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAA
ACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGA
AGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAA
TTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTG
GTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCA
GGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACT
TTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAAC
TTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCT
GTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGGGTCT
TCATGGTTGTGACTATATCTCCACAGCCAAAGCAAAGCAGACATTTAAGATGCTGCACAACAAA
CATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACC
CCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCC
AACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAG
GAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTC
CAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATG
TCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGA
CCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCT
CAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAA
GGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAA
AAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAA
TGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTA
TTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCT
GCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACA
CCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAAT
GATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTC
AAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAAT
CCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGT
ATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACT
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
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGT
GCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTG
AGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTGAGCACGACTGGCTGGCCCAGTTCTGCGC
CAACGCCGCCGCAGCGTGCGCGCACCGCAGCCGGGGCTCACGGGAGCCCCTGCCTGTCTACTGC
ACCCGGGGCGGCGGGGGAGGGGAGAGGTCATTAAAAAATAACCTCAGGAACGAGGCGGGGAAGA
GTGAAGAGCCGCGGACAGTTGGACAGGCTCTTTCTCTAAGAGTGGGTATTCACTGCAGGGGGTG
ACTTTCTGATTCTCTGGAAACAACCATGTGTTCCTTATCCCTATTGCGGAACACCCCGGACAAC
CGCAGCACGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGA
CCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGC
TACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGA
AACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAG
AAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCAT
GCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTG
GTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAG
CAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGG
AGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTC
TCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGAT
GCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGC
TCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACAAACA
TGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCC
TGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAA
CTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGA
AATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCA
GTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTC
ATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACC
TATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCA
ATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGG
AGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAA
GCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATG
ATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATT
CACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGC
CTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACC
CCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGA
TCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAA
ATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCC
TATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTAT
ACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCA
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
GTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATAT
GCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGAT
CTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGT
TGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCAT
GGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCC
TCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGG
TGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTG
TCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATA
AAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTT
CATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTC
TGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATAC
CGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGG
GAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGAT
CTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAAT
CCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAAT
TGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTT
CATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGT
TCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTA
AACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTAT
TTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATT
TGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTT
ATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAAT
GTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTT
ACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTT
ATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTT
ATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATAC
ATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCAT
GTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTC
TAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGG
ACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGA
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
AAGTTACCTTGGTTGAGAAGGCATGATGAGGCTGTAACTGTTTACAGAGAGACTTTTGTTTAAA
ACTGCAGGGCATGTTGTAAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAG
GTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATG
AAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGA
GATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAA
ACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGA
AGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAA
TTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTG
GTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCA
GGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACT
TTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAAC
TTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCT
GTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCT
GCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTG
AAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAA
GCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAA
GGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTA
TCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGA
CAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTG
TAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAAT
TATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAA
AGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACAC
TCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTT
TTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAA
GTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCAC
TTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGT
TTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTG
TGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAA
TTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATC
TTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTAC
AGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATAT
TGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAATGTTA

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

AGTGTCAACTGCATTTGCGTCCACCAAAAAAAGTATTACAAGTGGATAAATAATGTGCACTGCT
CTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAG
CCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCT
ATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGT
CAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGA
ATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGA
CAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAA
TCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCC
GGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACA
AGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAG
AGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCC
CAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTT
CATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCA
GGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACAT
CCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTC
TGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCA
TAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTG
GAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTT
TTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAA
TTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACAC
AATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTG
CCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTT
TTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAG
CACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAA
GTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGT
ACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTG
AGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACT
TTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTAT
TAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGC
TAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAA
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
TTTCCAAAACAGGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAG
TGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAAT
TTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAG
CAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCA
GGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATC
CCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTAT
CCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCA
CAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGT
GTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCC
CTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGA
TGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAG
CGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGCTGCACAACA
AACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGA
CCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCT
CCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGA
AGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTC
TCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAA
TGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATAT
GACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTT
CTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAAAGATAAAT
AAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGT
AAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAA
AATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAG
TATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGG
CTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTA
CACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGA
ATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAG
TCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTA
ATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTAC
GTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTA
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
TGGACACTGATTAACTGCAGCTGGGGTCTGATTTGCCCAGCCTGTCTTTGATATTGATCAATGA
ACTCCTTCTCAAGGAATGCTTTCCTCTAACTGCGGTGAAGGTGGTGGCTCTGGTGGTTCTCTCC
AACATGGGTGTCTGGGTTTTGACTGCCTAAGAGAAGGTATTACAAGTGGATAAATAATGTGCAC
TGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGG
CTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCA
ATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCT
CTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACA
AAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCA
GAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATT
TGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTT
GGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTG
AACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAA
AAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAA
TGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCC
TCTTCATTAGGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTT
TGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAA
ACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGG
TCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACC
CTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGT
TTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTT
ATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATC
CAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAA
ACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAA
AGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTAT
GCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCA
ACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCG
AAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTG
GGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATT
CCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGA
TACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTC
TTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTG
TAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCA
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
AGAAAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGT
GCGGCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACC
TGTGCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTG
AGAGCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTGAGCACGACTGGCTGGCCCAGTTCTGCGC
CAACGCCGCCGCAGCGTGCGCGCACCGCAGCCGGGGCTCACGGGAGCCCCTGCCTGTCTACTGC
ACCCGGGGCGGCGGGGGAGGGGAGAGGTCATTAAAAAATAACCTCAGGAACGAGGCGGGGAAGA
GTGAAGAGCCGCGGACAGTTGGACAGGCTCTTTCTCTAAGAGTGGGTATTCACTGCAGGGGGTG
ACTTTCTGATTCTCTGGAAACAACCATGTGTTCCTTATCCCTATTGCGGAACACCCCGGACAAC
CGCAGCACGTATTACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGA
CCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGC
TACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGA
AACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAG
AAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCAT
GCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTG
GTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAG
CAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGG
AGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTC
TCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGAT
GCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGC
TCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGATGGGGAAACTGAGACA
CTGAGGTTGAGTAACTTCTCAAAGTTCTAAGGTGAAAAAATAAAGTCTTAGAGAAGTTCTTAAA
CCATATAGACATTTGGCATGTCATTTTATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAG
GAGGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTC
CCGTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCA
GATAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGG
TCATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCAT
ATGTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCA
AAGAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAAC
TCAAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTA
GAACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGC
AGATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATA
ATTGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTG
CTGCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACT
GGAAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATC
TATGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATG
AGTTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATG
AGCTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTT
ATTTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAG
TAAAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACA
GGGCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAA
ATTTTAAAAATGTTATCTGTCTCTAAATCAATGCCTCATTCTGAAATCAAGTTAATTTTCAAAT
GGCAA

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

ATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGGAGA
AAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCG
GCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACCTGT
GCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGA
GCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGCTCT
GAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCC
AGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTAT
TAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCA
ACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAAT
CTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACA
ATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATC
GGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGG
ATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAG
AAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAG
TACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCA
AACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCA
TTAGGGGTCTTCATGGTTGTGACTATATCTCCACAGCCAAAGCAAAGCAGACATTTAAGATGCT
GCACAACAAACATGTCATGGTCCGTGTGGGAGGAGGCTGGGAAACTTTTGCAGGGTATTTGTTG
AAACACGACCCCTGCCGAATGCTGCAGATCTCCCGTGTGGATGGCAAAACATCCCCTATCCAAA
GCAAATCTCCAACTCTAAAGGACATGAATCCAGATAACTACTTGGTGGTCTCTGCCAGTTATAA
GGCTAAGAAGGAAATTAAGTGAAACAAATTGGTCATGACAAGGGGACCCTCATAATGGCCTGTA
TCCACTTCTCCAGTATAGTCAGTTTAGTTCATATGTTCTGAAAACTGTTTTGGAGAAAGATAGA
CAGAAAAATGTCATCATATTGAAAAATGTTCAAAGAGTAGCACTATTTATTTTTAATGCTTCTG
TAGAATATGACCTATTAAAAGAAAATCTAAACTCAAATTTAAATTATCCAAATTTTAGGCAAAT
TATTATTTCTCAATATGCGAACACAGTATTTAGAACACAATATTAGAAACACAATTCTAACTAA
AGATAAATAAGGAGAAAACATTTAGGATTTGCAGATAAGTCAACAGAAAGTGCCTGCTTTACAC
TCATGAGTAAAAGCACTCCAGACATTTTTATAATTGCAAGATTTTTATGCTTTTTTTTTTTTTT
TTTTACAAAATGATGATTAGTGTGATAATGTGCTGCAAAAAATATCCAACAGCACTACACATAA
GTACAGAGTATTCACAATAGTAATATGTTACTGGAAAGGCCACTTCCGAAAAGTTTACATTCAC
TTGGAAGGCTGCCTTAAAGTATATCTCTTATCTATGACCAAATATCTGGGGTACTTTTAGAAGT
TTTCAGTACACCCCCTTAGAGAATAGCTTATGAGTTATTTCACACATTCCTGAGCACATGGCTG
TGTTTAGAATGATCTAGTGTAATTCATACATGAGCTGACATACGTTGATACTTTGACGAGTAAA
TTGTACAGTCAAATGTTCATTGATTTCATGTTATTTCAAAGCATTTTCTTATTAAAAATATATC
TTTAGTTAATCCTATTTTGCTATGCTTTCTAGTAAAGTAAATTCACTGTAGCTAATGATGTTAC
AGACTTACGTATACCCTTGTATACCTGGGACAGGGCTGTTTTATACCAATAAACAGCAAAATAT
TGTCCTTACTCATTCAAGAATTAAAAGGATAAATTTTAAAAA

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

CAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGGAAAATGGAAAAAAAAAGGAAAAGAAACCAA
CTTTTCAGTTGAAAGTTCAAAGCTGAGTGTTCAGAGGAGCCTTCAAGGCTACAGGAATCCTTAA
TTTTTTTTGCAGGTATCTGAGTTGAAAGAACCAGGCCTATTTAAGGAGGTGGAAAAAATCCAAA
AAAGCTTTGATTCAGAATGGGGATGACAGTGTATGGCAAGAATTATGCAGATTAACTTTAGCTT
CATACCTTTCTACTTATCTGTTTAAATCTTGATTTTAAATTCTTCCTTGAGCATAGTAACGTAT
AAACTCCTACATATTTCAGATTAGTCTATTTTCATTAAATAAAATGTCTATGAAGTTTCCCCCT
CTAAAGAAAGAAAAGCCTAGCATTTCAACCTATATTCTTGAGGCAGGGTGGGGAGGGATACAAA
AACTTAATTATAATGCAAAGCAGATTTTATATATTTTGAAAATTTTAAGAATTTTGCTATGAGA
GACTAGATAGAAACTGACAGGAGAGTTCTGGGAAGACTACAGAGGACTGATACTTGATTTAGGC
CTCAAAGTGTTTGAACAATCATGGGACAGAAGAAAATCCAAGTGAGAGAAATAATATAAGGTAT
TACAAGTGGATAAATAATGTGCACTGCTCTGAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCT
GATATGCATCAGTATAGCCAATGGCTAGCCAGCAGACATGAAGCTAATTTGCTACCAATGAAAG
AAGATCTGGCCTTGTGGTTAACCAATCTATTAGGGAAGGAGATTACAGCAGAAACTTTTATGGA
GAAGTTGGACAATGGTGCCTTGCTCTGTCAACTTGCAGAAACTATGCAGGAGAAATTCAAGGAG
AGCATGGATGCTAACAAGCCCACAAAGAATCTACCGTTGAAGAAGATCCCATGCAAAACCAGTG
CACCCTCGGGCTCCTTTTTTGCCAGAGACAATACAGCAAATTTCTTATCCTGGTGCCGAGATTT
AGGGGTGGATGAAACGTGTCTATTTGAATCGGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAA
GTGTGTCTCTGTCTGCTAGAGCTTGGCCGGATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTT
TGATAAAGCTGGAAAAAGAGATTGAACAAGAAGAAACACTTTCTGCCCCTTCTCCTTCACCTTC
TCCTTCATCAAAGTCTTCTGGAAAAAAGAGTACAGGAAACTTACTGGATGATGCAGTGAAACGA
ATTTCTGAAGATCCTCCTTGCAAATGCCCAAACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAA
GATACCGAGTGGGAGAAAAGATCCTCTTCATTAGGGGTCTTCATGGTTGTGACTATATCTCCAC
AGCCAAAGCAAAGCAGACATTTAAGATGCTGCACAACAAACATGTCATGGTCCGTGTGGGAGGA
GGCTGGGAAACTTTTGCAGGGTATTTGTTGAAACACGACCCCTGCCGAATGCTGCAGATCTCCC
GTGTGGATGGCAAAACATCCCCTATCCAAAGCAAATCTCCAACTCTAAAGGACATGAATCCAGA
TAACTACTTGGTGGTCTCTGCCAGTTATAAGGCTAAGAAGGAAATTAAGTGAAACAAATTGGTC
ATGACAAGGGGACCCTCATAATGGCCTGTATCCACTTCTCCAGTATAGTCAGTTTAGTTCATAT
GTTCTGAAAACTGTTTTGGAGAAAGATAGACAGAAAAATGTCATCATATTGAAAAATGTTCAAA
GAGTAGCACTATTTATTTTTAATGCTTCTGTAGAATATGACCTATTAAAAGAAAATCTAAACTC
AAATTTAAATTATCCAAATTTTAGGCAAATTATTATTTCTCAATATGCGAACACAGTATTTAGA
ACACAATATTAGAAACACAATTCTAACTAAAGATAAATAAGGAGAAAACATTTAGGATTTGCAG
ATAAGTCAACAGAAAGTGCCTGCTTTACACTCATGAGTAAAAGCACTCCAGACATTTTTATAAT
TGCAAGATTTTTATGCTTTTTTTTTTTTTTTTTTACAAAATGATGATTAGTGTGATAATGTGCT
GCAAAAAATATCCAACAGCACTACACATAAGTACAGAGTATTCACAATAGTAATATGTTACTGG
AAAGGCCACTTCCGAAAAGTTTACATTCACTTGGAAGGCTGCCTTAAAGTATATCTCTTATCTA
TGACCAAATATCTGGGGTACTTTTAGAAGTTTTCAGTACACCCCCTTAGAGAATAGCTTATGAG
TTATTTCACACATTCCTGAGCACATGGCTGTGTTTAGAATGATCTAGTGTAATTCATACATGAG
CTGACATACGTTGATACTTTGACGAGTAAATTGTACAGTCAAATGTTCATTGATTTCATGTTAT
TTCAAAGCATTTTCTTATTAAAAATATATCTTTAGTTAATCCTATTTTGCTATGCTTTCTAGTA
AAGTAAATTCACTGTAGCTAATGATGTTACAGACTTACGTATACCCTTGTATACCTGGGACAGG
GCTGTTTTATACCAATAAACAGCAAAATATTGTCCTTACTCATTCAAGAATTAAAAGGATAAAT
TTTAAAAA

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

ATTTTACTTCCGCTCGGTCTATGAGGACTGATGAAATGTAGGAAATCTGTTTCTGGCAGGGAGA
AAAAATCGTTTTCCCAAACAGCACTAAAAGGAGCCATCAGAGAAGTATGAAGAGGGGTAGTGCG
GCTGTAGCTGCTGCCGCTGCCGCCAGGCTGGTGGGGTGCGGGGAGCGGCTGCTGCAGGACCTGT
GCCTGGAGGGGGCCGGCCCCGAGAAGCTGCAGGAGCCCAGCCCGGAGCCCAAGCGCCTCTGAGA
GCCGCCAGCAGCCCAGCTCGGGACGCGGGGGTATTACAAGTGGATAAATAATGTGCACTGCTCT
GAGCCCAAAGGTACGCAGTGGACCTGGCCTCTCTGATATGCATCAGTATAGCCAATGGCTAGCC
AGCAGACATGAAGCTAATTTGCTACCAATGAAAGAAGATCTGGCCTTGTGGTTAACCAATCTAT
TAGGGAAGGAGATTACAGCAGAAACTTTTATGGAGAAGTTGGACAATGGTGCCTTGCTCTGTCA
ACTTGCAGAAACTATGCAGGAGAAATTCAAGGAGAGCATGGATGCTAACAAGCCCACAAAGAAT
CTACCGTTGAAGAAGATCCCATGCAAAACCAGTGCACCCTCGGGCTCCTTTTTTGCCAGAGACA
ATACAGCAAATTTCTTATCCTGGTGCCGAGATTTAGGGGTGGATGAAACGTGTCTATTTGAATC
GGAAGGTTTGGTCCTCCACAAGCAACCCAGAGAAGTGTGTCTCTGTCTGCTAGAGCTTGGCCGG
ATTGCAGCCAGGTATGGTGTGGAGCCTCCTGGTTTGATAAAGCTGGAAAAAGAGATTGAACAAG
AAGAAACACTTTCTGCCCCTTCTCCTTCACCTTCTCCTTCATCAAAGTCTTCTGGAAAAAAGAG
TACAGGAAACTTACTGGATGATGCAGTGAAACGAATTTCTGAAGATCCTCCTTGCAAATGCCCA
AACAAGTTCTGTGTGGAGCGGCTCTCCCAAGGAAGATACCGAGTGGGAGAAAAGATCCTCTTCA
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 Sequences


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
	ENSP00000432584.1
	ENSP00000433182.1
	ENSP00000434478.1
	ENSP00000435946
	ENSP00000435946.1
	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 MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGW 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 ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGW ETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK 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 MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMLHNKHVMVRVGGGW ETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVVSASYKAKKEIK hide sequence

RefSeq Acc Id:

XP_011518274 ⟸ XM_011519972

- Peptide Label:

isoform X1

- Sequence:

show sequence

MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG
ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET
CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS
SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRGLHGCDYISTAKAKQ
TFKMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVV
SASYKAKKEIK

hide sequence

RefSeq Acc Id:

XP_011518273 ⟸ XM_011519971

- Peptide Label:

isoform X1

- Sequence:

show sequence

MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG
ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET
CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS
SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRGLHGCDYISTAKAKQ
TFKMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYLVV
SASYKAKKEIK

hide sequence

RefSeq Acc Id:	XP_011518277 ⟸ XM_011519975
- Peptide Label:	isoform X4
- UniProtKB:	E9PRR5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRMGKLRH hide sequence

RefSeq Acc Id:	NP_001338153 ⟸ NM_001351224
- Peptide Label:	isoform b
- UniProtKB:	E9PRR5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEKLDNG ALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWCRDLGVDET CLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLSAPSPSPSPSSKS SGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFIRTI hide sequence

Ensembl Acc Id:

ENSP00000435946 ⟸ ENST00000532398

Ensembl Acc Id:

ENSP00000434478 ⟸ ENST00000533363

Ensembl Acc Id:

ENSP00000401145 ⟸ ENST00000454584

Ensembl Acc Id:

ENSP00000433182 ⟸ ENST00000534801

Ensembl Acc Id:

ENSP00000432026 ⟸ ENST00000524701

Ensembl Acc Id:

ENSP00000485708 ⟸ ENST00000630668

Ensembl Acc Id:

ENSP00000432584 ⟸ ENST00000528582

Ensembl Acc Id:

ENSP00000278187 ⟸ ENST00000278187

RefSeq Acc Id:	NP_001378866 ⟸ NM_001391937
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001378863 ⟸ NM_001391934
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001378862 ⟸ NM_001391933
- Peptide Label:	isoform c

RefSeq Acc Id:	NP_001378865 ⟸ NM_001391936
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001378864 ⟸ NM_001391935
- Peptide Label:	isoform a
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047282701 ⟸ XM_047426745
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047282702 ⟸ XM_047426746
- Peptide Label:	isoform X2
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047282700 ⟸ XM_047426744
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047282703 ⟸ XM_047426747
- Peptide Label:	isoform X2
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047282706 ⟸ XM_047426750
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_047282705 ⟸ XM_047426749
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054224362 ⟸ XM_054368387
- Peptide Label:	isoform X2
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054224359 ⟸ XM_054368384
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054224360 ⟸ XM_054368385
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054224358 ⟸ XM_054368383
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054224357 ⟸ XM_054368382
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054224366 ⟸ XM_054368391
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054224365 ⟸ XM_054368390
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054224367 ⟸ XM_054368392
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054224361 ⟸ XM_054368386
- Peptide Label:	isoform X2
- UniProtKB:	Q6ICV8 (UniProtKB/Swiss-Prot), O43903 (UniProtKB/Swiss-Prot), D3DQZ0 (UniProtKB/Swiss-Prot), B2R9C8 (UniProtKB/Swiss-Prot), Q7Z3X8 (UniProtKB/Swiss-Prot)

Protein Domains

Calponin-homology (CH) GAR

Protein Structures

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

Promoters

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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4167	AgrOrtholog
COSMIC	GAS2	COSMIC
Ensembl Genes	ENSG00000148935	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000278187	ENTREZGENE
	ENST00000278187.7	UniProtKB/Swiss-Prot
	ENST00000454584	ENTREZGENE
	ENST00000454584.7	UniProtKB/Swiss-Prot
	ENST00000524701.5	UniProtKB/Swiss-Prot
	ENST00000528582.5	UniProtKB/TrEMBL
	ENST00000532398	ENTREZGENE
	ENST00000532398.1	UniProtKB/TrEMBL
	ENST00000533363.5	UniProtKB/TrEMBL
	ENST00000534801.5	UniProtKB/TrEMBL
	ENST00000630668.2	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.418.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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, UniProtKB/TrEMBL
	CH_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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, UniProtKB/TrEMBL
	TRANSGELIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GAS2	UniProtKB/Swiss-Prot
	PF00307	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28580	PharmGKB
PROSITE	GAR	UniProtKB/Swiss-Prot
	PS50021	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	GAS2	UniProtKB/Swiss-Prot
	SM00033	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF143575	UniProtKB/Swiss-Prot
	SSF47576	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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

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

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

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