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Gene: GAS2L1 (growth arrest specific 2 like 1) Homo sapiens

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Symbol:

GAS2L1

Name:

growth arrest specific 2 like 1

RGD ID:

1322543

HGNC Page

HGNC:16955

Description:

Enables cytoskeletal anchor activity and microtubule binding activity. Involved in microtubule bundle formation; negative regulation of microtubule depolymerization; and protein localization to microtubule plus-end. Located in cytoplasm and cytoskeleton.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GAR22; GAS2-like protein 1; GAS2-related protein on chromosome 22; growth arrest-specific 2 like 1; growth arrest-specific protein 2-like 1; MGC17243

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

GAS2L1P1 GAS2L1P2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	29,306,650 - 29,312,787 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	29,306,618 - 29,312,787 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	29,702,640 - 29,708,776 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	28,032,997 - 28,038,774 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	28,027,550 - 28,033,328	NCBI
Celera	22	13,502,852 - 13,508,630 (+)	NCBI		Celera
Cytogenetic Map	22	q12.2	NCBI
HuRef	22	12,667,224 - 12,673,019 (+)	NCBI		HuRef
CHM1_1	22	29,662,401 - 29,668,196 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	29,769,795 - 29,776,198 (+)	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)
GAS2L1	Human	Breast Cancer, Familial		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cancer of breast	ClinVar	PMID:16551709 more ...
GAS2L1	Human	Breast Cancer, Familial		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Breast cancer and familial	ClinVar	PMID:21876083 more ...
GAS2L1	Human	vestibular schwannomatosis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurofibromatosis and type 2	ClinVar	PMID:10220142 more ...
GAS2L1	Human	vestibular schwannomatosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurofibromatosis and type 2	ClinVar	PMID:16983642 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2L1	Human	acute myeloid leukemia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:17330099

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GAS2L1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of GAS2L1 mRNA	CTD	PMID:22206623
GAS2L1	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of GAS2L1 mRNA	CTD	PMID:22574217
GAS2L1	Human	17beta-estradiol	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Estradiol results in increased expression of GAS2L1 mRNA	CTD	PMID:39298647
GAS2L1	Human	17beta-estradiol	decreases expression	ISO	Gas2l1 (Mus musculus)	6480464	Estradiol results in decreased expression of GAS2L1 mRNA	CTD	PMID:19484750
GAS2L1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Gas2l1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of GAS2L1 mRNA	CTD	PMID:21570461
GAS2L1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of GAS2L1 mRNA	CTD	PMID:32109520
GAS2L1	Human	2-methoxyethanol	increases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	methyl cellosolve results in increased expression of GAS2L1 mRNA	CTD	PMID:21061450
GAS2L1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	bisphenol S results in increased expression of GAS2L1 mRNA	CTD	PMID:39298647
GAS2L1	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Gas2l1 (Mus musculus)	6480464	bisphenol S affects the methylation of GAS2L1 gene	CTD	PMID:31683443
GAS2L1	Human	5-aza-2'-deoxycytidine	multiple interactions	EXP		6480464	[Decitabine co-treated with Vorinostat] affects the expression of GAS2L1 mRNA	CTD	PMID:17330099
GAS2L1	Human	acrylamide	decreases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of GAS2L1 mRNA	CTD	PMID:28959563
GAS2L1	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of GAS2L1 gene	CTD	PMID:25304211
GAS2L1	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of GAS2L1 gene	CTD	PMID:25304211
GAS2L1	Human	arsenite(3-)	decreases methylation	EXP		6480464	arsenite results in decreased methylation of GAS2L1 promoter	CTD	PMID:23974009
GAS2L1	Human	benzo[a]pyrene	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of GAS2L1 mRNA]	CTD	PMID:22228805
GAS2L1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of GAS2L1 promoter	CTD	PMID:27901495
GAS2L1	Human	benzo[a]pyrene	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of GAS2L1 mRNA	CTD	PMID:22228805
GAS2L1	Human	bisphenol A	decreases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of GAS2L1 mRNA	CTD	PMID:25181051 more ...
GAS2L1	Human	bisphenol A	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	bisphenol A results in increased expression of GAS2L1 mRNA	CTD	PMID:33221593
GAS2L1	Human	bisphenol A	increases methylation	ISO	Gas2l1 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of GAS2L1 gene	CTD	PMID:28505145
GAS2L1	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of GAS2L1 protein	CTD	PMID:35688186
GAS2L1	Human	carbon nanotube	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Nanotubes and Carbon results in increased expression of GAS2L1 mRNA	CTD	PMID:25620056
GAS2L1	Human	choline	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of GAS2L1 and [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of GAS2L1 gene	CTD	PMID:20938992
GAS2L1	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of GAS2L1 mRNA	CTD	PMID:27392435
GAS2L1	Human	cisplatin	multiple interactions	EXP		6480464	Cisplatin promotes the reaction [jinfukang results in increased expression of GAS2L1 mRNA] and jinfukang promotes the reaction [Cisplatin results in increased expression of GAS2L1 mRNA]	CTD	PMID:27392435
GAS2L1	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of GAS2L1 mRNA	CTD	PMID:20971185
GAS2L1	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of GAS2L1 mRNA	CTD	PMID:20971185
GAS2L1	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of GAS2L1 mRNA	CTD	PMID:38568856
GAS2L1	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of GAS2L1 mRNA	CTD	PMID:19549813
GAS2L1	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of GAS2L1 mRNA	CTD	PMID:20106945 and PMID:27989131
GAS2L1	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of GAS2L1 gene	CTD	PMID:22964155
GAS2L1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of GAS2L1 mRNA	CTD	PMID:37042841
GAS2L1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS2L1 mRNA	CTD	PMID:27188386
GAS2L1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of GAS2L1 mRNA	CTD	PMID:29803840
GAS2L1	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of GAS2L1 mRNA	CTD	PMID:27188386
GAS2L1	Human	ethanol	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Ethanol results in increased expression of GAS2L1 mRNA	CTD	PMID:30319688
GAS2L1	Human	flutamide	increases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	Flutamide results in increased expression of GAS2L1 mRNA	CTD	PMID:24136188
GAS2L1	Human	folic acid	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	[1 more ...	CTD	PMID:20938992 and PMID:22206623
GAS2L1	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of GAS2L1 protein	CTD	PMID:37730182
GAS2L1	Human	gentamycin	decreases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of GAS2L1 mRNA	CTD	PMID:33387578
GAS2L1	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of GAS2L1 mRNA	CTD	PMID:20044591
GAS2L1	Human	L-methionine	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of GAS2L1 and [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of GAS2L1 gene	CTD	PMID:20938992
GAS2L1	Human	mercury dibromide	decreases expression	EXP		6480464	mercuric bromide results in decreased expression of GAS2L1 mRNA	CTD	PMID:26272509
GAS2L1	Human	mercury dibromide	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS2L1 mRNA	CTD	PMID:27188386
GAS2L1	Human	monosodium L-glutamate	decreases expression	ISO	Gas2l1 (Mus musculus)	6480464	Sodium Glutamate results in decreased expression of GAS2L1 mRNA	CTD	PMID:22078008
GAS2L1	Human	N-methyl-4-phenylpyridinium	increases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in increased expression of GAS2L1 mRNA	CTD	PMID:24810058
GAS2L1	Human	nitrates	multiple interactions	ISO	Gas2l1 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of GAS2L1 mRNA	CTD	PMID:35964746
GAS2L1	Human	paracetamol	affects expression	ISO	Gas2l1 (Mus musculus)	6480464	Acetaminophen affects the expression of GAS2L1 mRNA	CTD	PMID:17562736
GAS2L1	Human	paracetamol	increases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of GAS2L1 mRNA	CTD	PMID:33387578
GAS2L1	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Pregnenolone Carbonitrile results in increased expression of GAS2L1 mRNA	CTD	PMID:22698814
GAS2L1	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of GAS2L1 mRNA	CTD	PMID:23557933
GAS2L1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GAS2L1 mRNA	CTD	PMID:27188386
GAS2L1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of GAS2L1 mRNA	CTD	PMID:38568856
GAS2L1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of GAS2L1 mRNA	CTD	PMID:34032870
GAS2L1	Human	sodium fluoride	decreases expression	ISO	Gas2l1 (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of GAS2L1 mRNA	CTD	PMID:27862939
GAS2L1	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of GAS2L1 mRNA	CTD	PMID:31533062
GAS2L1	Human	tert-butyl hydroperoxide	decreases expression	EXP		6480464	tert-Butylhydroperoxide results in decreased expression of GAS2L1 mRNA	CTD	PMID:29432895
GAS2L1	Human	thimerosal	decreases expression	EXP		6480464	Thimerosal results in decreased expression of GAS2L1 mRNA	CTD	PMID:27188386
GAS2L1	Human	titanium dioxide	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	titanium dioxide results in increased expression of GAS2L1 mRNA	CTD	PMID:29128614 and PMID:29264374
GAS2L1	Human	titanium dioxide	increases methylation	ISO	Gas2l1 (Mus musculus)	6480464	titanium dioxide results in increased methylation of GAS2L1 gene	CTD	PMID:35295148
GAS2L1	Human	titanium dioxide	decreases methylation	ISO	Gas2l1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of GAS2L1 gene	CTD	PMID:35295148
GAS2L1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of GAS2L1 mRNA	CTD	PMID:37042841
GAS2L1	Human	Triptolide	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	triptolide results in increased expression of GAS2L1 mRNA	CTD	PMID:32835833
GAS2L1	Human	triptonide	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	triptonide results in increased expression of GAS2L1 mRNA	CTD	PMID:33045310
GAS2L1	Human	triptonide	affects expression	ISO	Gas2l1 (Mus musculus)	6480464	triptonide affects the expression of GAS2L1 mRNA	CTD	PMID:33045310
GAS2L1	Human	valproic acid	increases expression	ISO	Gas2l1 (Mus musculus)	6480464	Valproic Acid results in increased expression of GAS2L1 mRNA	CTD	PMID:21427059
GAS2L1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of GAS2L1 mRNA	CTD	PMID:23179753 more ...
GAS2L1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of GAS2L1 gene	CTD	PMID:29154799
GAS2L1	Human	vinclozolin	decreases expression	ISO	Gas2l1 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of GAS2L1 mRNA	CTD	PMID:23034163
GAS2L1	Human	vinclozolin	increases methylation	ISO	Gas2l1 (Rattus norvegicus)	6480464	vinclozolin results in increased methylation of GAS2L1 gene	CTD	PMID:31079544
GAS2L1	Human	vorinostat	multiple interactions	EXP		6480464	[decitabine co-treated with vorinostat] affects the expression of GAS2L1 mRNA	CTD	PMID:17330099

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)
GAS2L1	Human	actin crosslink formation	involved_in	IBA	PANTHER:PTN005319067 and dictyBase:DDB_G0269424	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	cellular response to starvation	involved_in	ISS	UniProtKB:Q8JZP9-1	150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	microtubule bundle formation	involved_in	IMP		150520179	PMID:12584248 and PMID:24706950	UniProt	PMID:12584248 and PMID:24706950
GAS2L1	Human	microtubule bundle formation	involved_in	IBA	PANTHER:PTN005319070 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	negative regulation of microtubule depolymerization	involved_in	IMP		150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	protein localization to microtubule plus-end	involved_in	IDA		150520179	PMID:24706950	UniProt	PMID:24706950
GAS2L1	Human	protein localization to microtubule plus-end	involved_in	IBA	PANTHER:PTN005319070 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	regulation of microtubule polymerization or depolymerization	involved_in	IMP		150520179	PMID:24706950	UniProt	PMID:24706950
GAS2L1	Human	regulation of microtubule polymerization or depolymerization	involved_in	IBA	PANTHER:PTN005319070 more ...	150520179		GO_Central	GO_REF:0000033

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)
GAS2L1	Human	actin filament	located_in	IMP		150520179	PMID:24706950	UniProt	PMID:24706950
GAS2L1	Human	cytoplasm	located_in	IDA		150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	cytoplasm	is_active_in	IBA	FB:FBgn0029881 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
GAS2L1	Human	cytoskeleton	located_in	IEA	UniProtKB-SubCell:SL-0090	150520179		UniProt	GO_REF:0000044
GAS2L1	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
GAS2L1	Human	microtubule	located_in	IDA		150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	microtubule plus-end	located_in	IMP		150520179	PMID:24706950	UniProt	PMID:24706950
GAS2L1	Human	microtubule plus-end	located_in	IBA	PANTHER:PTN005319070 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	stress fiber	located_in	IEA	UniProtKB-SubCell:SL-0501	150520179		UniProt	GO_REF:0000044
GAS2L1	Human	stress fiber	located_in	IBA	MGI:1926176 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	stress fiber	located_in	IDA		150520179	PMID:12584248	UniProt	PMID:12584248

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)
GAS2L1	Human	actin filament binding	enables	IBA	PANTHER:PTN005319067 more ...	150520179		GO_Central	GO_REF:0000033
GAS2L1	Human	cytoskeletal anchor activity	enables	IDA		150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	microtubule binding	enables	IDA		150520179	PMID:12584248	UniProt	PMID:12584248
GAS2L1	Human	microtubule binding	enables	IEA	InterPro:IPR003108 and InterPro:IPR036534	150520179		InterPro	GO_REF:0000002
GAS2L1	Human	protein binding	enables	IPI	UniProtKB:P81274	150520179	PMID:32296183	IntAct	PMID:32296183
GAS2L1	Human	protein binding	enables	IPI	UniProtKB:Q61166	150520179	PMID:24706950	UniProt	PMID:24706950

#	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:1607387	PMID:8125298	PMID:8975699	PMID:11799066	PMID:12477932	PMID:12584248	PMID:14702039	PMID:15489334	PMID:17081983	PMID:19375645	PMID:19531213	PMID:20537721
PMID:21044950	PMID:21873635	PMID:24706950	PMID:25086665	PMID:25496667	PMID:26186194	PMID:26496610	PMID:28017616	PMID:28514442	PMID:29162697	PMID:32289147	PMID:32296183
PMID:32513696	PMID:33961781	PMID:35748872	PMID:36215168	PMID:36964488

GAS2L1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	29,306,650 - 29,312,787 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	29,306,618 - 29,312,787 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	29,702,640 - 29,708,776 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	28,032,997 - 28,038,774 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	28,027,550 - 28,033,328	NCBI
Celera	22	13,502,852 - 13,508,630 (+)	NCBI		Celera
Cytogenetic Map	22	q12.2	NCBI
HuRef	22	12,667,224 - 12,673,019 (+)	NCBI		HuRef
CHM1_1	22	29,662,401 - 29,668,196 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	29,769,795 - 29,776,198 (+)	NCBI		T2T-CHM13v2.0

Gas2l1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	5,004,131 - 5,015,351 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	5,004,132 - 5,015,327 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	5,054,131 - 5,065,348 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	5,054,132 - 5,065,327 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	4,954,134 - 4,965,330 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	4,950,920 - 4,964,854 (-)	NCBI		MGSCv36	mm8
Celera	11	5,551,023 - 5,562,217 (-)	NCBI		Celera
Cytogenetic Map	11	A1	NCBI
cM Map	11	3.21	NCBI

Gas2l1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	84,169,398 - 84,175,514 (-)	NCBI		GRCr8
mRatBN7.2	14	79,955,350 - 79,961,830 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	79,950,555 - 79,961,438 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	84,357,658 - 84,363,768 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	85,597,740 - 85,603,850 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	82,047,079 - 82,053,189 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	85,308,443 - 85,318,475 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	85,308,443 - 85,318,194 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	85,986,064 - 85,995,860 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	85,716,617 - 85,726,368 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	85,740,654 - 85,745,508 (-)	NCBI
Celera	14	78,842,658 - 78,852,409 (-)	NCBI		Celera
Cytogenetic Map	14	q21	NCBI

Gas2l1
(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_004955455	3,613,092 - 3,621,306 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	3,613,092 - 3,618,476 (+)	NCBI	ChiLan1.0	ChiLan1.0

GAS2L1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	39,290,157 - 39,296,331 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	41,990,691 - 41,996,963 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	10,362,391 - 10,368,173 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	28,169,388 - 28,175,278 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	28,169,387 - 28,175,278 (+)	Ensembl	panpan1.1		panPan2

GAS2L1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	22,615,531 - 22,620,605 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	22,615,319 - 22,621,311 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	22,486,993 - 22,492,483 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	22,989,305 - 22,994,798 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	26	22,698,503 - 22,703,987 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	22,961,632 - 22,967,113 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	23,026,621 - 23,032,106 (+)	NCBI		UU_Cfam_GSD_1.0

Gas2l1
(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_024405118	112,537,639 - 112,543,342 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936657	3,327,339 - 3,333,797 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936657	3,327,363 - 3,333,087 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GAS2L1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	46,449,787 - 46,455,276 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	46,449,767 - 46,455,278 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	49,414,643 - 49,420,160 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GAS2L1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	19	12,175,207 - 12,181,295 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	12,176,015 - 12,183,723 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	113,968,749 - 113,975,139 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gas2l1
(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_004624747	5,684,108 - 5,688,124 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	5,683,107 - 5,688,405 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GAS2L1
27 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	copy number gain	See cases [RCV000050553]	Chr22:26979579..33992220 [GRCh38] Chr22:27375542..34388209 [GRCh37] Chr22:25705542..32718209 [NCBI36] Chr22:22q12.1-12.3	pathogenic
GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	copy number gain	See cases [RCV000051199]	Chr22:29281920..29878399 [GRCh38] Chr22:29677909..30274388 [GRCh37] Chr22:28007909..28604388 [NCBI36] Chr22:22q12.2	uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	copy number loss	See cases [RCV000052869]	Chr22:26221273..29477543 [GRCh38] Chr22:26617239..29873532 [GRCh37] Chr22:24947239..28203532 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1	copy number loss	See cases [RCV000052870]	Chr22:28278805..31742328 [GRCh38] Chr22:28674793..32138314 [GRCh37] Chr22:27004793..30468314 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	copy number loss	See cases [RCV000052871]	Chr22:28441035..30276511 [GRCh38] Chr22:28837023..30672500 [GRCh37] Chr22:27167023..29002500 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	copy number loss	See cases [RCV000052872]	Chr22:28856144..29506277 [GRCh38] Chr22:29252132..29902266 [GRCh37] Chr22:27582132..28232266 [NCBI36] Chr22:22q12.1-12.2	pathogenic
NM_152236.2(GAS2L1):c.246C>T (p.Ala82=)	single nucleotide variant	Malignant melanoma [RCV000072932]	Chr22:29308351 [GRCh38] Chr22:29704341 [GRCh37] Chr22:28034341 [NCBI36] Chr22:22q12.2	not provided
NM_152236.2(GAS2L1):c.678C>T (p.Pro226=)	single nucleotide variant	Malignant melanoma [RCV000072933]	Chr22:29310483 [GRCh38] Chr22:29706473 [GRCh37] Chr22:28036473 [NCBI36] Chr22:22q12.2	not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	copy number gain	See cases [RCV000138172]	Chr22:23279231..36247369 [GRCh38] Chr22:23621418..36643415 [GRCh37] Chr22:21951418..34973361 [NCBI36] Chr22:22q11.23-12.3	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	copy number loss	See cases [RCV000143415]	Chr22:26451042..31451926 [GRCh38] Chr22:26847008..31847912 [GRCh37] Chr22:25177008..30177912 [NCBI36] Chr22:22q12.1-12.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3	copy number gain	See cases [RCV000448504]	Chr22:29537064..30994320 [GRCh37] Chr22:22q12.1-12.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	copy number gain	See cases [RCV000510523]	Chr22:28349854..33013062 [GRCh37] Chr22:22q12.1-12.3	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	copy number gain	See cases [RCV000511098]	Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	copy number loss	not provided [RCV000684497]	Chr22:29644625..31051719 [GRCh37] Chr22:22q12.2	pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	copy number gain	not provided [RCV000684530]	Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
inv(22)(q12.2q12.2)	inversion	Anaplastic ependymoma [RCV000785873]	Chr22:29684716..31740655 [GRCh37] Chr22:22q12.2	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_29083875)_(30090801_?)del	deletion	Familial cancer of breast [RCV001033149]	Chr22:29083875..30090801 [GRCh37] Chr22:22q12.1-12.2	pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	copy number loss	not provided [RCV001258778]	Chr22:28291202..30450920 [GRCh37] Chr22:22q12.1-12.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_29083885)_(30337586_?)del	deletion	Neurofibromatosis, type 2 [RCV001390044]	Chr22:29083885..30337586 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NC_000022.10:g.(?_29105984)_(30337586_?)del	deletion	Familial cancer of breast [RCV001390747]	Chr22:29105984..30337586 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NC_000022.10:g.(?_29130713)_(30000111_?)del	deletion	Neurofibromatosis, type 2 [RCV001982188]	Chr22:29130713..30000111 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NC_000022.10:g.(?_29083885)_(34046674_?)dup	duplication	not provided [RCV001979643]	Chr22:29083885..34046674 [GRCh37] Chr22:22q12.1-12.3	uncertain significance
GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	copy number loss	not provided [RCV002472563]	Chr22:26614429..29847680 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NM_001362985.3(GAS2L1):c.266C>G (p.Ala89Gly)	single nucleotide variant	not specified [RCV004184780]	Chr22:29308371 [GRCh38] Chr22:29704361 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.349C>G (p.Pro117Ala)	single nucleotide variant	not specified [RCV004108523]	Chr22:29308454 [GRCh38] Chr22:29704444 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.967G>T (p.Val323Phe)	single nucleotide variant	not specified [RCV004138893]	Chr22:29310955 [GRCh38] Chr22:29706945 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.967G>A (p.Val323Ile)	single nucleotide variant	not specified [RCV004084845]	Chr22:29310955 [GRCh38] Chr22:29706945 [GRCh37] Chr22:22q12.2	likely benign
NM_001362985.3(GAS2L1):c.593C>T (p.Pro198Leu)	single nucleotide variant	not specified [RCV004234211]	Chr22:29308698 [GRCh38] Chr22:29704688 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.511G>A (p.Ala171Thr)	single nucleotide variant	not specified [RCV004222348]	Chr22:29308616 [GRCh38] Chr22:29704606 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.164G>C (p.Gly55Ala)	single nucleotide variant	not specified [RCV004102948]	Chr22:29308269 [GRCh38] Chr22:29704259 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.256G>A (p.Ala86Thr)	single nucleotide variant	not specified [RCV004138295]	Chr22:29308361 [GRCh38] Chr22:29704351 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.857C>T (p.Pro286Leu)	single nucleotide variant	not specified [RCV004227538]	Chr22:29310845 [GRCh38] Chr22:29706835 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.41A>G (p.Lys14Arg)	single nucleotide variant	not specified [RCV004225910]	Chr22:29308146 [GRCh38] Chr22:29704136 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.476A>C (p.Gln159Pro)	single nucleotide variant	not specified [RCV004168289]	Chr22:29308581 [GRCh38] Chr22:29704571 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.523C>G (p.Pro175Ala)	single nucleotide variant	not specified [RCV004260211]	Chr22:29308628 [GRCh38] Chr22:29704618 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.127C>G (p.Leu43Val)	single nucleotide variant	not specified [RCV004362909]	Chr22:29308232 [GRCh38] Chr22:29704222 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.58C>A (p.Arg20Ser)	single nucleotide variant	not specified [RCV004394979]	Chr22:29308163 [GRCh38] Chr22:29704153 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.940C>T (p.Arg314Trp)	single nucleotide variant	not specified [RCV004394981]	Chr22:29310928 [GRCh38] Chr22:29706918 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.445C>T (p.Arg149Cys)	single nucleotide variant	not specified [RCV004394978]	Chr22:29308550 [GRCh38] Chr22:29704540 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.596G>T (p.Arg199Leu)	single nucleotide variant	not specified [RCV004394980]	Chr22:29308701 [GRCh38] Chr22:29704691 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.719C>T (p.Ser240Leu)	single nucleotide variant	not specified [RCV004634528]	Chr22:29310524 [GRCh38] Chr22:29706514 [GRCh37] Chr22:22q12.2	uncertain significance
NC_000022.10:g.(?_29083885)_(30090791_?)del	deletion	Neurofibromatosis, type 2 [RCV004582379]	Chr22:29083885..30090791 [GRCh37] Chr22:22q12.1-12.2	pathogenic
NC_000022.10:g.(?_29621477)_(30035211_?)del	deletion	Neurofibromatosis, type 2 [RCV004582435]	Chr22:29621477..30035211 [GRCh37] Chr22:22q12.2	pathogenic
NM_001362985.3(GAS2L1):c.553A>G (p.Thr185Ala)	single nucleotide variant	not specified [RCV004634529]	Chr22:29308658 [GRCh38] Chr22:29704648 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.1013C>T (p.Pro338Leu)	single nucleotide variant	not specified [RCV004634530]	Chr22:29311464 [GRCh38] Chr22:29707454 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.405C>A (p.Ser135Arg)	single nucleotide variant	not specified [RCV004924437]	Chr22:29308510 [GRCh38] Chr22:29704500 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.916A>G (p.Ser306Gly)	single nucleotide variant	not specified [RCV004930617]	Chr22:29310904 [GRCh38] Chr22:29706894 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.19G>A (p.Gly7Ser)	single nucleotide variant	not specified [RCV004924436]	Chr22:29308124 [GRCh38] Chr22:29704114 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.568G>T (p.Ala190Ser)	single nucleotide variant	not specified [RCV004924438]	Chr22:29308673 [GRCh38] Chr22:29704663 [GRCh37] Chr22:22q12.2	uncertain significance
NM_001362985.3(GAS2L1):c.179C>T (p.Thr60Met)	single nucleotide variant	not specified [RCV004930616]	Chr22:29308284 [GRCh38] Chr22:29704274 [GRCh37] Chr22:22q12.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5203
Count of miRNA genes:	891
Interacting mature miRNAs:	1105
Transcripts:	ENST00000341313, ENST00000360113, ENST00000403764, ENST00000406549, ENST00000407647, ENST00000407854, ENST00000416823, ENST00000428622, ENST00000471961, ENST00000487341, ENST00000491016
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1581529	BP71_H	Blood pressure QTL 71 (human)	2	0.001	Blood pressure	pulse pressure	22	11094966	37094966	Human
2289428	BW313_H	Body weight QTL 313 (human)	2.09	0.0015	Body weight	BMI	22	11344284	37344284	Human
597320822	GWAS1416896_H	educational attainment QTL GWAS1416896 (human)		1e-10	educational attainment		22	29306920	29306921	Human

RH17231

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	29,708,659 - 29,708,763	UniSTS	GRCh37
Build 36	22	28,038,659 - 28,038,763	RGD	NCBI36
Celera	22	13,508,515 - 13,508,619	RGD
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
HuRef	22	12,672,900 - 12,673,004	UniSTS
HuRef	9	69,438,803 - 69,438,907	UniSTS

WI-20850

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	29,708,470 - 29,708,736	UniSTS	GRCh37
Build 36	22	28,038,470 - 28,038,736	RGD	NCBI36
Celera	22	13,508,326 - 13,508,592	RGD
Cytogenetic Map	22	q12.2	UniSTS
HuRef	22	12,672,711 - 12,672,977	UniSTS
GeneMap99-GB4 RH Map	22	64.67	UniSTS
Whitehead-RH Map	22	79.0	UniSTS

RH70963

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	29,709,045 - 29,709,237	UniSTS	GRCh37
Build 36	22	28,039,045 - 28,039,237	RGD	NCBI36
Celera	22	13,508,901 - 13,509,093	RGD
Cytogenetic Map	22	q12.2	UniSTS
HuRef	22	12,673,286 - 12,673,478	UniSTS
GeneMap99-GB4 RH Map	22	79.3	UniSTS
NCBI RH Map	22	116.0	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2238	4974	1724	2349	6	624	1765	465	2270	7136	6302	52	3734	1	852	1744	1614	174	1


RefSeq Transcripts	NG_032959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001362985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001395196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001395197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011529825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054324983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054324984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC002059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225484	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI601743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM144477	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM803267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459717	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y07846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y07848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000406549 ⟹ ENSP00000383995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,023 - 29,312,785 (+)	Ensembl

Ensembl Acc Id:

ENST00000416823 ⟹ ENSP00000395988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,306,618 - 29,308,520 (+)	Ensembl

Ensembl Acc Id:

ENST00000428622 ⟹ ENSP00000388645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,306,650 - 29,308,535 (+)	Ensembl

Ensembl Acc Id:

ENST00000487341

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,058 - 29,307,799 (+)	Ensembl

Ensembl Acc Id:

ENST00000491016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,310,279 - 29,311,107 (+)	Ensembl

Ensembl Acc Id:

ENST00000610653 ⟹ ENSP00000484130

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,041 - 29,312,094 (+)	Ensembl

Ensembl Acc Id:

ENST00000611648 ⟹ ENSP00000479551

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,058 - 29,312,785 (+)	Ensembl

Ensembl Acc Id:

ENST00000616432 ⟹ ENSP00000478908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,306,650 - 29,312,787 (+)	Ensembl

Ensembl Acc Id:

ENST00000618518 ⟹ ENSP00000481012

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,058 - 29,312,785 (+)	Ensembl

Ensembl Acc Id:

ENST00000621062 ⟹ ENSP00000478343

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	29,307,052 - 29,312,785 (+)	Ensembl

RefSeq Acc Id:

NM_001278730 ⟹ NP_001265659

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,023 - 29,312,787 (+)	NCBI
HuRef	22	12,667,224 - 12,673,019 (+)	NCBI
CHM1_1	22	29,662,401 - 29,668,196 (+)	NCBI
T2T-CHM13v2.0	22	29,770,434 - 29,776,198 (+)	NCBI

Sequence:

show sequence

GACGGCGGCGAGGAGGAGGCCGCGGCGCGGGACGCATAGAGCTGCGGCTCGGGCGGCGCCTCCCTGCGGCGGCCCGGCCCGGCTCCGGCCCCCGCTGGGGCAATGCTCCCCGGGGCCGCGGGATGAGC
CAGTGACTCGGCCGGTCCGGGCATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAGAGCGTGCGGCCATTTCGCTCCAGTGAGGCCTACGTGGAGGCCATGAAGGAGGACCTGGCCGAGT
GGCTCAATGCCTTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGCCACGGGCACGACCCTGTGCCAACATGCCAACGCCGTGACCGAGGCTGCCCGTGCATTGGCAGCC
GCCCGCCCGGCCCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGCGCGACAACGTGGCCACCTTCATCGGCTGGTGCCGCGTGGAGCTGGGTGTGCCGGAGGTGCTCAT
GTTTGAGACTGAGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTGCTGGAGGTGGCGCGGCGTGGGGCACGCCTGGGCCTGCTGGCCCCACGCCTCGTGCAGTTTGAGCAGGAGA
TTGAGCGGGAGCTGCGTGCTGCACCCCCAGCCCCCAACGCCCCTGCCGCTGGGGAGGACACCACTGAAACCGCCCCCGCACCAGGGACTCCTGCCCGCGGCCCCCGCATGACACCCAGCGACCTGCGC
AACCTCGACGAGCTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGATCAAGGTCTCAGAGGGGAAGTACCGTGTGGGGGACTCGAGCCTGCTCATCTTTGTGCGGGTGCT
GAGGAGCCACGTGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAGCACGACCCGTGCCGCTGCTCCTCCACTGCTCATCGCCCACCCCAGCCGAGGGTCTGCACCTTTT
CTCCACAGAGGGTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCGCCGGGGCTCCCGGCCTGAGATGACTCCCGTTAGCTTACGAAGCACAAAGGAGGGGCCCGAGACC
CCACCCAGTTCCTCCTCTTCGTCCCTCAGCGTCCTGGGTGGCAAATGTGGCCAACCTGGGGACTCTGGCCGGACGGCCAATGGGCTGCCTGGGCCCCGAAGCCAAGCCCTTTCCAGCTCCTCCGATGA
AGGCAGCCCCTGCCCTGGCATGGGGGGGCCACTAGATGCACCTGGGAGCCCCCTGGCTTGCACTGAACCCTCGAGGACCTGGGCACGGGGTCGGATGGACACACAGCCAGACCGTAAACCCTCACGTA
TCCCCACGCCTCGGGGCCCCCGCCGCCCCTCCGGACCCGCAGAGCTGGGGACATGGCATGCCCTGCACTCAGTCACCCCGAGGGCTGAGCCAGATTCCTGGATGTGATGGACCAGCTCAGCTGTCCCC
AGACCCCATCCCTTCTCCTTTTCCTTTGTGGCCTTAACCCTTCTGCATCAGGGAGCCCCCTCTGCCTCTTGAGTACCAGACCTCATGGGACCAGACCCCTTGGGACCACATGGCACAATGGGACCTCT
GTTGTACATTCCGGTTGGGGGATGAGCGTTGCTATTTAATTACTAATATTATTGAATGCCTTAGAGGAGGCCGGGCGAGCCCGGTGTTCTGAAGACCTGTGGCCCAGCAGAGCCTCTGACAGTAAAGT
TTTGCTCCAGCCA

hide sequence

RefSeq Acc Id:

NM_001362985 ⟹ NP_001349914

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,306,650 - 29,312,787 (+)	NCBI
T2T-CHM13v2.0	22	29,770,061 - 29,776,198 (+)	NCBI

Sequence:

show sequence

GACGGCGGCGAGGAGGAGGCCGCGGCGCGGGACGCATAGAGCTGCGGCTCGGGCGGCGCCTCCC
TGCGGCGGCCCGGCCCGGCTCCGGCCCCCGCTGGGGCAATGCTCCCCGGGGCCGCGGGATGAGCCAGTGACTCGGCCGGTCCGGGCATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAG
AGCGTGCGGCCATTTCGCTCCAGTGAGGCCTACGTGGAGGCCATGAAGGAGGACCTGGCCGAGTGGCTCAATGCCTTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGC
CACGGGCACGACCCTGTGCCAACATGCCAACGCCGTGACCGAGGCTGCCCGTGCATTGGCAGCCGCCCGCCCGGCCCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGC
GCGACAACGTGGCCACCTTCATCGGCTGGTGCCGCGTGGAGCTGGGTGTGCCGGAGGTGCTCATGTTTGAGACTGAGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTGCTGGAG
GTGGCGCGGCGTGGGGCACGCCTGGGCCTGCTGGCCCCACGCCTCGTGCAGTTTGAGCAGGAGATTGAGCGGGAGCTGCGTGCTGCACCCCCAGCCCCCAACGCCCCTGCCGCTGGGGAGGACACCAC
TGAAACCGCCCCCGCACCAGGGACTCCTGCCCGCGGCCCCCGCATGACACCCAGCGACCTGCGCAACCTCGACGAGCTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGA
TCAAGGTCTCAGAGGGGAAGTACCGTGTGGGGGACTCGAGCCTGCTCATCTTTGTGCGGGTGCTGAGGAGCCACGTGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAG
CACGACCCGTGCCGCTGCTCCTCCACTGCTCATCGCCCACCCCAGCCGAGGGTCTGCACCTTTTCTCCACAGAGGGTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCG
CCGGGGCTCCCGGCCTGAGATGACTCCCGTTAGCTTACGAAGCACAAAGGAGGGGCCCGAGACCCCACCCAGGCCCCGGGATCAGCTGCCCCCCCATCCCCGCTCCCGCCGCTACTCCGGGGACAGTG
ACTCCTCAGCCTCCTCCGCCCAGAGCGGCCCCCTTGGTACCCGCAGTGATGACACAGGCACTGGCCCCCGGAGGGAGCGACCCAGCCGGCGGCTGACCACAGGCACCCCGGCCTCTCCGAGACGGCCT
CCTGCCCTGCGCAGCCAGTCCCGAGACCGGCTGGATCGCGGCCGGCCCCGGGGGGCCCCAGGAGGCAGGGGAGCCCAGCTGTCGGTCCCCAGCCCTGCCCGGCGGGCCCGGAGCCAGAGCCGCGAGGA
GCAGGCTGTGCTGCTTGTGCGCAGGGATCGAGACGGGCAGCACTCATGGGTGCCAAGGGGCAGGGGCAGTGGGGGCTCGGGCAGGAGCACCCCCCAGACTCCCCGTGCCCGCAGCCCTGCAGCACCCC
GGCTTTCCCGGGTCTCCAGCCCCAGTCCAGAGTTGGGCACCACACCGGCCAGCATCTTCCGCACACCCCTGCAGCTCGACCCGCAGCAGGAGCAGCAGCTGTTCCGGCGCCTGGAAGAGGAGTTCCTG
GCCAATGCCCGGGCCCTTGAGGCTGTTGCTAGCGTGACCCCCACTGGACCAGCCCCTGACCCAGCTCGGGCCCCCGACCCTCCAGCTCCTGACTCTGCCTATTGTTCCTCCAGTTCCTCCTCTTCGTC
CCTCAGCGTCCTGGGTGGCAAATGTGGCCAACCTGGGGACTCTGGCCGGACGGCCAATGGGCTGCCTGGGCCCCGAAGCCAAGCCCTTTCCAGCTCCTCCGATGAAGGCAGCCCCTGCCCTGGCATGG
GGGGGCCACTAGATGCACCTGGGAGCCCCCTGGCTTGCACTGAACCCTCGAGGACCTGGGCACGGGGTCGGATGGACACACAGCCAGACCGTAAACCCTCACGTATCCCCACGCCTCGGGGCCCCCGC
CGCCCCTCCGGACCCGCAGAGCTGGGGACATGGCATGCCCTGCACTCAGTCACCCCGAGGGCTGAGCCAGATTCCTGGATGTGATGGACCAGCTCAGCTGTCCCCAGACCCCATCCCTTCTCCTTTTC
CTTTGTGGCCTTAACCCTTCTGCATCAGGGAGCCCCCTCTGCCTCTTGAGTACCAGACCTCATGGGACCAGACCCCTTGGGACCACATGGCACAATGGGACCTCTGTTGTACATTCCGGTTGGGGGAT
GAGCGTTGCTATTTAATTACTAATATTATTGAATGCCTTAGAGGAGGCCGGGCGAGCCCGGTGTTCTGAAGACCTGTGGCCCAGCAGAGCCTCTGACAGTAAAGTTTTGCTCCAGCCA

hide sequence

RefSeq Acc Id:

NM_001395196 ⟹ NP_001382125

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,023 - 29,312,787 (+)	NCBI
T2T-CHM13v2.0	22	29,770,434 - 29,776,198 (+)	NCBI

RefSeq Acc Id:

NM_001395197 ⟹ NP_001382126

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,023 - 29,312,787 (+)	NCBI
T2T-CHM13v2.0	22	29,770,434 - 29,776,198 (+)	NCBI

RefSeq Acc Id:

NM_006478 ⟹ NP_006469

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,023 - 29,312,787 (+)	NCBI
GRCh37	22	29,702,985 - 29,708,778 (+)	NCBI
Build 36	22	28,032,997 - 28,038,774 (+)	NCBI Archive
Celera	22	13,502,852 - 13,508,630 (+)	RGD
HuRef	22	12,667,224 - 12,673,019 (+)	NCBI
CHM1_1	22	29,662,401 - 29,668,196 (+)	NCBI
T2T-CHM13v2.0	22	29,770,434 - 29,776,198 (+)	NCBI

Sequence:

show sequence

GACGGCGGCGAGGAGGAGGCCGCGGCGCGGGACGCATAGAGCTGCGGCTCGGGCGGCGCCTCCCTGCGGCGGCCCGGCCCGGCTCCGGCCCCCGCTGGGGCAATGCTCCCCGGGGCCGCGGGATGAGC
CAGCGATCCTGAACTGTGTTCCTGCCCACAGTGACTCGGCCGGTCCGGGCATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAGAGCGTGCGGCCATTTCGCTCCAGTGAGGCCTACGTG
GAGGCCATGAAGGAGGACCTGGCCGAGTGGCTCAATGCCTTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGCCACGGGCACGACCCTGTGCCAACATGCCAACGCCGT
GACCGAGGCTGCCCGTGCATTGGCAGCCGCCCGCCCGGCCCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGCGCGACAACGTGGCCACCTTCATCGGCTGGTGCCGCG
TGGAGCTGGGTGTGCCGGAGGTGCTCATGTTTGAGACTGAGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTGCTGGAGGTGGCGCGGCGTGGGGCACGCCTGGGCCTGCTGGCC
CCACGCCTCGTGCAGTTTGAGCAGGAGATTGAGCGGGAGCTGCGTGCTGCACCCCCAGCCCCCAACGCCCCTGCCGCTGGGGAGGACACCACTGAAACCGCCCCCGCACCAGGGACTCCTGCCCGCGG
CCCCCGCATGACACCCAGCGACCTGCGCAACCTCGACGAGCTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGATCAAGGTCTCAGAGGGGAAGTACCGTGTGGGGGACT
CGAGCCTGCTCATCTTTGTGCGGGTGCTGAGGAGCCACGTGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAGCACGACCCGTGCCGCTGCTCCTCCACTGCTCATCGC
CCACCCCAGCCGAGGGTCTGCACCTTTTCTCCACAGAGGGTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCGCCGGGGCTCCCGGCCTGAGATGACTCCCGTTAGCTT
ACGAAGCACAAAGGAGGGGCCCGAGACCCCACCCAGGCCCCGGGATCAGCTGCCCCCCCATCCCCGCTCCCGCCGCTACTCCGGGGACAGTGACTCCTCAGCCTCCTCCGCCCAGAGCGGCCCCCTTG
GTACCCGCAGTGATGACACAGGCACTGGCCCCCGGAGGGAGCGACCCAGCCGGCGGCTGACCACAGGCACCCCGGCCTCTCCGAGACGGCCTCCTGCCCTGCGCAGCCAGTCCCGAGACCGGCTGGAT
CGCGGCCGGCCCCGGGGGGCCCCAGGAGGCAGGGGAGCCCAGCTGTCGGTCCCCAGCCCTGCCCGGCGGGCCCGGAGCCAGAGCCGCGAGGAGCAGGCTGTGCTGCTTGTGCGCAGGGATCGAGACGG
GCAGCACTCATGGGTGCCAAGGGGCAGGGGCAGTGGGGGCTCGGGCAGGAGCACCCCCCAGACTCCCCGTGCCCGCAGCCCTGCAGCACCCCGGCTTTCCCGGGTCTCCAGCCCCAGTCCAGAGTTGG
GCACCACACCGGCCAGCATCTTCCGCACACCCCTGCAGCTCGACCCGCAGCAGGAGCAGCAGCTGTTCCGGCGCCTGGAAGAGGAGTTCCTGGCCAATGCCCGGGCCCTTGAGGCTGTTGCTAGCGTG
ACCCCCACTGGACCAGCCCCTGACCCAGCTCGGGCCCCCGACCCTCCAGCTCCTGACTCTGCCTATTGTTCCTCCAGTTCCTCCTCTTCGTCCCTCAGCGTCCTGGGTGGCAAATGTGGCCAACCTGG
GGACTCTGGCCGGACGGCCAATGGGCTGCCTGGGCCCCGAAGCCAAGCCCTTTCCAGCTCCTCCGATGAAGGCAGCCCCTGCCCTGGCATGGGGGGGCCACTAGATGCACCTGGGAGCCCCCTGGCTT
GCACTGAACCCTCGAGGACCTGGGCACGGGGTCGGATGGACACACAGCCAGACCGTAAACCCTCACGTATCCCCACGCCTCGGGGCCCCCGCCGCCCCTCCGGACCCGCAGAGCTGGGGACATGGCAT
GCCCTGCACTCAGTCACCCCGAGGGCTGAGCCAGATTCCTGGATGTGATGGACCAGCTCAGCTGTCCCCAGACCCCATCCCTTCTCCTTTTCCTTTGTGGCCTTAACCCTTCTGCATCAGGGAGCCCC
CTCTGCCTCTTGAGTACCAGACCTCATGGGACCAGACCCCTTGGGACCACATGGCACAATGGGACCTCTGTTGTACATTCCGGTTGGGGGATGAGCGTTGCTATTTAATTACTAATATTATTGAATGC
CTTAGAGGAGGCCGGGCGAGCCCGGTGTTCTGAAGACCTGTGGCCCAGCAGAGCCTCTGACAGTAAAGTTTTGCTCCAGCCA

hide sequence

RefSeq Acc Id:

NM_152236 ⟹ NP_689422

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,023 - 29,312,787 (+)	NCBI
GRCh37	22	29,702,985 - 29,708,778 (+)	NCBI
Build 36	22	28,032,997 - 28,038,774 (+)	NCBI Archive
Celera	22	13,502,852 - 13,508,630 (+)	RGD
HuRef	22	12,667,224 - 12,673,019 (+)	NCBI
CHM1_1	22	29,662,401 - 29,668,196 (+)	NCBI
T2T-CHM13v2.0	22	29,770,434 - 29,776,198 (+)	NCBI

Sequence:

show sequence

GACGGCGGCGAGGAGGAGGCCGCGGCGCGGGACGCATAGAGCTGCGGCTCGGGCGGCGCCTCCCTGCGGCGGCCCGGCCCGGCTCCGGCCCCCGCTGGGGCAATGCTCCCCGGGGCCGCGGGATGAGC
CAGGTGAGCGCGGAGACCCCCAGCACTCCCTGCCTGTGACTCGGCCGGTCCGGGCATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAGAGCGTGCGGCCATTTCGCTCCAGTGAGGCCT
ACGTGGAGGCCATGAAGGAGGACCTGGCCGAGTGGCTCAATGCCTTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGCCACGGGCACGACCCTGTGCCAACATGCCAAC
GCCGTGACCGAGGCTGCCCGTGCATTGGCAGCCGCCCGCCCGGCCCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGCGCGACAACGTGGCCACCTTCATCGGCTGGTG
CCGCGTGGAGCTGGGTGTGCCGGAGGTGCTCATGTTTGAGACTGAGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTGCTGGAGGTGGCGCGGCGTGGGGCACGCCTGGGCCTGC
TGGCCCCACGCCTCGTGCAGTTTGAGCAGGAGATTGAGCGGGAGCTGCGTGCTGCACCCCCAGCCCCCAACGCCCCTGCCGCTGGGGAGGACACCACTGAAACCGCCCCCGCACCAGGGACTCCTGCC
CGCGGCCCCCGCATGACACCCAGCGACCTGCGCAACCTCGACGAGCTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGATCAAGGTCTCAGAGGGGAAGTACCGTGTGGG
GGACTCGAGCCTGCTCATCTTTGTGCGGGTGCTGAGGAGCCACGTGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAGCACGACCCGTGCCGCTGCTCCTCCACTGCTC
ATCGCCCACCCCAGCCGAGGGTCTGCACCTTTTCTCCACAGAGGGTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCGCCGGGGCTCCCGGCCTGAGATGACTCCCGTT
AGCTTACGAAGCACAAAGGAGGGGCCCGAGACCCCACCCAGGCCCCGGGATCAGCTGCCCCCCCATCCCCGCTCCCGCCGCTACTCCGGGGACAGTGACTCCTCAGCCTCCTCCGCCCAGAGCGGCCC
CCTTGGTACCCGCAGTGATGACACAGGCACTGGCCCCCGGAGGGAGCGACCCAGCCGGCGGCTGACCACAGGCACCCCGGCCTCTCCGAGACGGCCTCCTGCCCTGCGCAGCCAGTCCCGAGACCGGC
TGGATCGCGGCCGGCCCCGGGGGGCCCCAGGAGGCAGGGGAGCCCAGCTGTCGGTCCCCAGCCCTGCCCGGCGGGCCCGGAGCCAGAGCCGCGAGGAGCAGGCTGTGCTGCTTGTGCGCAGGGATCGA
GACGGGCAGCACTCATGGGTGCCAAGGGGCAGGGGCAGTGGGGGCTCGGGCAGGAGCACCCCCCAGACTCCCCGTGCCCGCAGCCCTGCAGCACCCCGGCTTTCCCGGGTCTCCAGCCCCAGTCCAGA
GTTGGGCACCACACCGGCCAGCATCTTCCGCACACCCCTGCAGCTCGACCCGCAGCAGGAGCAGCAGCTGTTCCGGCGCCTGGAAGAGGAGTTCCTGGCCAATGCCCGGGCCCTTGAGGCTGTTGCTA
GCGTGACCCCCACTGGACCAGCCCCTGACCCAGCTCGGGCCCCCGACCCTCCAGCTCCTGACTCTGCCTATTGTTCCTCCAGTTCCTCCTCTTCGTCCCTCAGCGTCCTGGGTGGCAAATGTGGCCAA
CCTGGGGACTCTGGCCGGACGGCCAATGGGCTGCCTGGGCCCCGAAGCCAAGCCCTTTCCAGCTCCTCCGATGAAGGCAGCCCCTGCCCTGGCATGGGGGGGCCACTAGATGCACCTGGGAGCCCCCT
GGCTTGCACTGAACCCTCGAGGACCTGGGCACGGGGTCGGATGGACACACAGCCAGACCGTAAACCCTCACGTATCCCCACGCCTCGGGGCCCCCGCCGCCCCTCCGGACCCGCAGAGCTGGGGACAT
GGCATGCCCTGCACTCAGTCACCCCGAGGGCTGAGCCAGATTCCTGGATGTGATGGACCAGCTCAGCTGTCCCCAGACCCCATCCCTTCTCCTTTTCCTTTGTGGCCTTAACCCTTCTGCATCAGGGA
GCCCCCTCTGCCTCTTGAGTACCAGACCTCATGGGACCAGACCCCTTGGGACCACATGGCACAATGGGACCTCTGTTGTACATTCCGGTTGGGGGATGAGCGTTGCTATTTAATTACTAATATTATTG
AATGCCTTAGAGGAGGCCGGGCGAGCCCGGTGTTCTGAAGACCTGTGGCCCAGCAGAGCCTCTGACAGTAAAGTTTTGCTCCAGCCA

hide sequence

RefSeq Acc Id:

XM_011529825 ⟹ XP_011528127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,306,650 - 29,312,787 (+)	NCBI

Sequence:

show sequence

GCTATCGCTTCCTGCCTTCATCTTGGGAACAGGCCGTGCTGTGCGCCAGCCCGGGGAGCCCACCGTCTGGGGAGGGGGGCGATTAAAAGGTCCCAACCTCCTCCCCAGGAGACCAAAGAGTGACTCGG
CCGGTCCGGGCATGGCAGACCCAGTGGCGGGCATCGCGGGCTCGGCGGCCAAGAGCGTGCGGCCATTTCGCTCCAGTGAGGCCTACGTGGAGGCCATGAAGGAGGACCTGGCCGAGTGGCTCAATGCC
TTGTACGGCCTGGGTCTCCCGGGTGGTGGCGATGGCTTCCTGACAGGGCTGGCCACGGGCACGACCCTGTGCCAACATGCCAACGCCGTGACCGAGGCTGCCCGTGCATTGGCAGCCGCCCGCCCGGC
CCGAGGTGTGGCCTTCCAGGCGCACAGTGTAGTGCCTGGCTCCTTCATGGCGCGCGACAACGTGGCCACCTTCATCGGCTGGTGCCGCGTGGAGCTGGGTGTGCCGGAGGTGCTCATGTTTGAGACTG
AGGACCTGGTGCTGCGCAAGAACGAGAAGAGCGTGGTGCTGTGCCTGCTGGAGGTGGCGCGGCGTGGGGCACGCCTGGGCCTGCTGGCCCCACGCCTCGTGCAGTTTGAGCAGGAGATTGAGCGGGAG
CTGCGTGCTGCACCCCCAGCCCCCAACGCCCCTGCCGCTGGGGAGGACACCACTGAAACCGCCCCCGCACCAGGGACTCCTGCCCGCGGCCCCCGCATGACACCCAGCGACCTGCGCAACCTCGACGA
GCTGGTGAGGGAGATTCTGGGCCGCTGCACCTGCCCTGACCAGTTTCCCATGATCAAGGTCTCAGAGGGGAAGTACCGTGTGGGGGACTCGAGCCTGCTCATCTTTGTGCGGGTGCTGAGGAGCCACG
TGATGGTGCGAGTGGGTGGTGGCTGGGACACGCTGGAGCATTACCTGGACAAGCACGACCCGTGCCGCTGCTCCTCCACTGCTCATCGCCCACCCCAGCCGAGGGTCTGCACCTTTTCTCCACAGAGG
GTGTCGCCCACCACCAGTCCCCGCCCTGCTAGCCCAGTCCCTGGGAGTGAGCGCCGGGGCTCCCGGCCTGAGATGACTCCCGTTAGCTTACGAAGCACAAAGGAGGGGCCCGAGACCCCACCCAGGCC
CCGGGATCAGCTGCCCCCCCATCCCCGCTCCCGCCGCTACTCCGGGGACAGTGACTCCTCAGCCTCCTCCGCCCAGAGCGGCCCCCTTGGTACCCGCAGTGATGACACAGGCACTGGCCCCCGGAGGG
AGCGACCCAGCCGGCGGCTGACCACAGGCACCCCGGCCTCTCCGAGACGGCCTCCTGCCCTGCGCAGCCAGTCCCGAGACCGGCTGGATCGCGGCCGGCCCCGGGGGGCCCCAGGAGGCAGGGGAGCC
CAGCTGTCGGTCCCCAGCCCTGCCCGGCGGGCCCGGAGCCAGAGCCGCGAGGAGCAGGCTGTGCTGCTTGTGCGCAGGGATCGAGACGGGCAGCACTCATGGGTGCCAAGGGGCAGGGGCAGTGGGGG
CTCGGGCAGGAGCACCCCCCAGACTCCCCGTGCCCGCAGCCCTGCAGCACCCCGGCTTTCCCGGGTCTCCAGCCCCAGTCCAGAGTTGGGCACCACACCGGCCAGCATCTTCCGCACACCCCTGCAGC
TCGACCCGCAGCAGGAGCAGCAGCTGTTCCGGCGCCTGGAAGAGGAGTTCCTGGCCAATGCCCGGGCCCTTGAGGCTGTTGCTAGCGTGACCCCCACTGGACCAGCCCCTGACCCAGCTCGGGCCCCC
GACCCTCCAGCTCCTGACTCTGCCTATTGTTCCTCCAGTTCCTCCTCTTCGTCCCTCAGCGTCCTGGGTGGCAAATGTGGCCAACCTGGGGACTCTGGCCGGACGGCCAATGGGCTGCCTGGGCCCCG
AAGCCAAGCCCTTTCCAGCTCCTCCGATGAAGGCAGCCCCTGCCCTGGCATGGGGGGGCCACTAGATGCACCTGGGAGCCCCCTGGCTTGCACTGAACCCTCGAGGACCTGGGCACGGGGTCGGATGG
ACACACAGCCAGACCGTAAACCCTCACGTATCCCCACGCCTCGGGGCCCCCGCCGCCCCTCCGGACCCGCAGAGCTGGGGACATGGCATGCCCTGCACTCAGTCACCCCGAGGGCTGAGCCAGATTCC
TGGATGTGATGGACCAGCTCAGCTGTCCCCAGACCCCATCCCTTCTCCTTTTCCTTTGTGGCCTTAACCCTTCTGCATCAGGGAGCCCCCTCTGCCTCTTGAGTACCAGACCTCATGGGACCAGACCC
CTTGGGACCACATGGCACAATGGGACCTCTGTTGTACATTCCGGTTGGGGGATGAGCGTTGCTATTTAATTACTAATATTATTGAATGCCTTAGAGGAGGCCGGGCGAGCCCGGTGTTCTGAAGACCT
GTGGCCCAGCAGAGCCTCTGACAGTAAAGTTTTGCTCCAGCCA

hide sequence

RefSeq Acc Id:

XM_054324983 ⟹ XP_054180958

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	29,770,067 - 29,776,198 (+)	NCBI

RefSeq Acc Id:

XM_054324984 ⟹ XP_054180959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	29,769,795 - 29,776,198 (+)	NCBI


Protein RefSeqs	NP_001265659	(Get FASTA)	NCBI Sequence Viewer
	NP_001349914	(Get FASTA)	NCBI Sequence Viewer
	NP_001382125	(Get FASTA)	NCBI Sequence Viewer
	NP_001382126	(Get FASTA)	NCBI Sequence Viewer
	NP_006469	(Get FASTA)	NCBI Sequence Viewer
	NP_689422	(Get FASTA)	NCBI Sequence Viewer
	NP_689423	(Get FASTA)	NCBI Sequence Viewer
	XP_011528127	(Get FASTA)	NCBI Sequence Viewer
	XP_054180958	(Get FASTA)	NCBI Sequence Viewer
	XP_054180959	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH01782	(Get FASTA)	NCBI Sequence Viewer
	AAH07624	(Get FASTA)	NCBI Sequence Viewer
	AAH11047	(Get FASTA)	NCBI Sequence Viewer
	ADO22165	(Get FASTA)	NCBI Sequence Viewer
	BAC04150	(Get FASTA)	NCBI Sequence Viewer
	BAD97322	(Get FASTA)	NCBI Sequence Viewer
	BAG53749	(Get FASTA)	NCBI Sequence Viewer
	BAG63186	(Get FASTA)	NCBI Sequence Viewer
	CAA69174	(Get FASTA)	NCBI Sequence Viewer
	CAA69176	(Get FASTA)	NCBI Sequence Viewer
	EAW59788	(Get FASTA)	NCBI Sequence Viewer
	EAW59789	(Get FASTA)	NCBI Sequence Viewer
	EAW59790	(Get FASTA)	NCBI Sequence Viewer
	EAW59791	(Get FASTA)	NCBI Sequence Viewer
	EAW59792	(Get FASTA)	NCBI Sequence Viewer
	EAW59793	(Get FASTA)	NCBI Sequence Viewer
	EAW59794	(Get FASTA)	NCBI Sequence Viewer
	EAW59795	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000383995
	ENSP00000383995.3
	ENSP00000478343
	ENSP00000478908
	ENSP00000479551
	ENSP00000481012
	ENSP00000484130.1
GenBank Protein	Q99501	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_689422 ⟸ NM_152236
- Peptide Label:	isoform a
- UniProtKB:	Q9BUY9 (UniProtKB/Swiss-Prot), Q92640 (UniProtKB/Swiss-Prot), Q53EN7 (UniProtKB/Swiss-Prot), B5MCR7 (UniProtKB/Swiss-Prot), Q99501 (UniProtKB/Swiss-Prot), A0A5E8 (UniProtKB/TrEMBL), A0A024R1C7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQHANAVTEAARALAAARPARGVAFQAHSVVPGSFMARDNVATFIGWCRVELGVPEVLMFETEDLV LRKNEKSVVLCLLEVARRGARLGLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPGTPARGPRMTPSDLRNLDELVREILGRCTCPDQFPMIKVSEGKYRVGDSSLLIFVRVLRSHVMVR VGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTTSPRPASPVPGSERRGSRPEMTPVSLRSTKEGPETPPRPRDQLPPHPRSRRYSGDSDSSASSAQSGPLGTRSDDTGTGPRRERPS RRLTTGTPASPRRPPALRSQSRDRLDRGRPRGAPGGRGAQLSVPSPARRARSQSREEQAVLLVRRDRDGQHSWVPRGRGSGGSGRSTPQTPRARSPAAPRLSRVSSPSPELGTTPASIFRTPLQLDPQ QEQQLFRRLEEEFLANARALEAVASVTPTGPAPDPARAPDPPAPDSAYCSSSSSSSSLSVLGGKCGQPGDSGRTANGLPGPRSQALSSSSDEGSPCPGMGGPLDAPGSPLACTEPSRTWARGRMDTQP DRKPSRIPTPRGPRRPSGPAELGTWHALHSVTPRAEPDSWM hide sequence

RefSeq Acc Id:	NP_006469 ⟸ NM_006478
- Peptide Label:	isoform a
- UniProtKB:	Q9BUY9 (UniProtKB/Swiss-Prot), Q92640 (UniProtKB/Swiss-Prot), Q53EN7 (UniProtKB/Swiss-Prot), B5MCR7 (UniProtKB/Swiss-Prot), Q99501 (UniProtKB/Swiss-Prot), A0A5E8 (UniProtKB/TrEMBL), A0A024R1C7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQ HANAVTEAARALAAARPARGVAFQAHSVVPGSFMARDNVATFIGWCRVELGVPEVLMFETEDLVLRKNEKSVVLCLLEVARRGARLGLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPG TPARGPRMTPSDLRNLDELVREILGRCTCPDQFPMIKVSEGKYRVGDSSLLIFVRVLRSHVMVRVGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTTSPRPASPVPGSERRGSRPEM TPVSLRSTKEGPETPPRPRDQLPPHPRSRRYSGDSDSSASSAQSGPLGTRSDDTGTGPRRERPSRRLTTGTPASPRRPPALRSQSRDRLDRGRPRGAPGGRGAQLSVPSPARRARSQSREEQAVLLVR RDRDGQHSWVPRGRGSGGSGRSTPQTPRARSPAAPRLSRVSSPSPELGTTPASIFRTPLQLDPQQEQQLFRRLEEEFLANARALEAVASVTPTGPAPDPARAPDPPAPDSAYCSSSSSSSSLSVLGGK CGQPGDSGRTANGLPGPRSQALSSSSDEGSPCPGMGGPLDAPGSPLACTEPSRTWARGRMDTQPDRKPSRIPTPRGPRRPSGPAELGTWHALHSVTPRAEPDSWM hide sequence

RefSeq Acc Id:	NP_001265659 ⟸ NM_001278730
- Peptide Label:	isoform c
- UniProtKB:	Q99501 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQHANAVTEAARALAAARPARGVAFQAHSVVPGSFMARDNVATFIGWCRVELGVPEVLMFETEDLV LRKNEKSVVLCLLEVARRGARLGLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPGTPARGPRMTPSDLRNLDELVREILGRCTCPDQFPMIKVSEGKYRVGDSSLLIFVRVLRSHVMVR VGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTTSPRPASPVPGSERRGSRPEMTPVSLRSTKEGPETPPSSSSSSLSVLGGKCGQPGDSGRTANGLPGPRSQALSSSSDEGSPCPGM GGPLDAPGSPLACTEPSRTWARGRMDTQPDRKPSRIPTPRGPRRPSGPAELGTWHALHSVTPRAEPDSWM hide sequence

RefSeq Acc Id:	XP_011528127 ⟸ XM_011529825
- Peptide Label:	isoform X1
- UniProtKB:	Q9BUY9 (UniProtKB/Swiss-Prot), Q92640 (UniProtKB/Swiss-Prot), Q53EN7 (UniProtKB/Swiss-Prot), B5MCR7 (UniProtKB/Swiss-Prot), Q99501 (UniProtKB/Swiss-Prot), A0A5E8 (UniProtKB/TrEMBL), A0A024R1C7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MADPVAGIAGSAAKSVRPFRSSEAYVEAMKEDLAEWLNALYGLGLPGGGDGFLTGLATGTTLCQHANAVTEAARALAAARPARGVAFQAHSVVPGSFMARDNVATFIGWCRVELGVPEVLMFETEDLV LRKNEKSVVLCLLEVARRGARLGLLAPRLVQFEQEIERELRAAPPAPNAPAAGEDTTETAPAPGTPARGPRMTPSDLRNLDELVREILGRCTCPDQFPMIKVSEGKYRVGDSSLLIFVRVLRSHVMVR VGGGWDTLEHYLDKHDPCRCSSTAHRPPQPRVCTFSPQRVSPTTSPRPASPVPGSERRGSRPEMTPVSLRSTKEGPETPPRPRDQLPPHPRSRRYSGDSDSSASSAQSGPLGTRSDDTGTGPRRERPS RRLTTGTPASPRRPPALRSQSRDRLDRGRPRGAPGGRGAQLSVPSPARRARSQSREEQAVLLVRRDRDGQHSWVPRGRGSGGSGRSTPQTPRARSPAAPRLSRVSSPSPELGTTPASIFRTPLQLDPQ QEQQLFRRLEEEFLANARALEAVASVTPTGPAPDPARAPDPPAPDSAYCSSSSSSSSLSVLGGKCGQPGDSGRTANGLPGPRSQALSSSSDEGSPCPGMGGPLDAPGSPLACTEPSRTWARGRMDTQP DRKPSRIPTPRGPRRPSGPAELGTWHALHSVTPRAEPDSWM hide sequence

RefSeq Acc Id:	NP_001349914 ⟸ NM_001362985
- Peptide Label:	isoform a
- UniProtKB:	Q9BUY9 (UniProtKB/Swiss-Prot), Q99501 (UniProtKB/Swiss-Prot), Q92640 (UniProtKB/Swiss-Prot), Q53EN7 (UniProtKB/Swiss-Prot), B5MCR7 (UniProtKB/Swiss-Prot), A0A024R1C7 (UniProtKB/TrEMBL), A0A5E8 (UniProtKB/TrEMBL)

Protein Domains

Calponin-homology (CH) GAR

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q99501-F1-model_v2	AlphaFold	Q99501	1-681	view protein structure

RGD ID:

6799926

Promoter ID:

HG_KWN:42230

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, NB4

Transcripts:

ENST00000360113, NM_006478, NM_152236, NM_152237, OTTHUMT00000321364, OTTHUMT00000321368, OTTHUMT00000321370, OTTHUMT00000321371, OTTHUMT00000321372, UC003AFA.1, UC003AFC.1, UC010GVM.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	28,032,636 - 28,033,767 (+)	MPROMDB

RGD ID:

13603620

Promoter ID:

EPDNEW_H27994

Type:

initiation region

Name:

GAS2L1_2

Description:

growth arrest specific 2 like 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27995

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,306,650 - 29,306,710	EPDNEW

RGD ID:

13603622

Promoter ID:

EPDNEW_H27995

Type:

initiation region

Name:

GAS2L1_1

Description:

growth arrest specific 2 like 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H27994

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	29,307,060 - 29,307,120	EPDNEW

Database	Acc Id	Source(s)
COSMIC	GAS2L1	COSMIC
Ensembl Genes	ENSG00000185340	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000406549	ENTREZGENE
	ENST00000406549.7	UniProtKB/Swiss-Prot
	ENST00000610653.4	UniProtKB/Swiss-Prot
	ENST00000611648	ENTREZGENE
	ENST00000616432	ENTREZGENE
	ENST00000618518	ENTREZGENE
	ENST00000621062	ENTREZGENE
Gene3D-CATH	1.10.418.10	UniProtKB/Swiss-Prot
	3.30.920.20	UniProtKB/Swiss-Prot
GTEx	ENSG00000185340	GTEx
HGNC ID	HGNC:16955	ENTREZGENE
Human Proteome Map	GAS2L1	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:10634	UniProtKB/Swiss-Prot
NCBI Gene	10634	ENTREZGENE
OMIM	602128	OMIM
PANTHER	PTHR46756:SF16	UniProtKB/Swiss-Prot
	TRANSGELIN	UniProtKB/Swiss-Prot
Pfam	GAS2	UniProtKB/Swiss-Prot
	PF00307	UniProtKB/Swiss-Prot
PharmGKB	PA38195	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	A0A024R1C7	ENTREZGENE
	A0A384P5D0_HUMAN	UniProtKB/TrEMBL
	A0A5E8	ENTREZGENE, UniProtKB/TrEMBL
	B5MCR7	ENTREZGENE
	C9JFI0_HUMAN	UniProtKB/TrEMBL
	C9JRR6_HUMAN	UniProtKB/TrEMBL
	GA2L1_HUMAN	UniProtKB/Swiss-Prot
	Q53EN7	ENTREZGENE
	Q92640	ENTREZGENE
	Q99501	ENTREZGENE
	Q9BUY9	ENTREZGENE
UniProt Secondary	B5MCR7	UniProtKB/Swiss-Prot
	Q53EN7	UniProtKB/Swiss-Prot
	Q92640	UniProtKB/Swiss-Prot
	Q9BUY9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	GAS2L1	growth arrest specific 2 like 1	GAS2L1	growth arrest-specific 2 like 1	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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