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Gene: GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4) Homo sapiens

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Symbol:

GABRA4

Name:

gamma-aminobutyric acid type A receptor subunit alpha4

RGD ID:

734147

HGNC Page

HGNC:4078

Description:

Predicted to enable GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Involved in chloride transmembrane transport and gamma-aminobutyric acid signaling pathway. Part of GABA-A receptor complex. Implicated in autistic disorder. Biomarker of autistic disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GABA(A) receptor subunit alpha-4; GABA(A) receptor, alpha 4; GABAAR subunit alpha-4; gamma-aminobutyric acid (GABA) A receptor, alpha 4; gamma-aminobutyric acid A receptor alpha 4; gamma-aminobutyric acid receptor subunit alpha-4; gamma-aminobutyric acid type A receptor alpha4 subunit

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	4	46,918,900 - 46,993,581 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	46,918,900 - 46,993,581 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	46,920,917 - 46,995,598 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	46,615,674 - 46,690,337 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	46,761,846 - 46,836,508	NCBI
Celera	4	47,369,879 - 47,444,600 (-)	NCBI		Celera
Cytogenetic Map	4	p12	NCBI
HuRef	4	46,239,865 - 46,315,415 (-)	NCBI		HuRef
CHM1_1	4	46,920,103 - 46,995,631 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	46,886,225 - 46,960,936 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABRA4	Human	autistic disorder		IEP		6480253		RGD
GABRA4	Human	autistic disorder		IAGP		6480254	DNA:SNPs: :rs17599165 more ...	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABRA4	Human	Ataxia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16091474
GABRA4	Human	autistic disorder		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16080114 and PMID:16770606

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GABRA4	Human	(+)-pilocarpine	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Pilocarpine results in increased expression of GABRA4 protein	CTD	PMID:15456836
GABRA4	Human	(+)-pilocarpine	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Pilocarpine results in increased expression of GABRA4 mRNA	CTD	PMID:16091474
GABRA4	Human	(+)-pilocarpine	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	Pilocarpine promotes the reaction [EGR3 protein binds to GABRA4 promoter]	CTD	PMID:16091474
GABRA4	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of GABRA4 mRNA	CTD	PMID:16000229
GABRA4	Human	17beta-estradiol	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with Estradiol] results in increased expression of GABRA4 mRNA	CTD	PMID:26496021
GABRA4	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Progesterone co-treated with estradiol 3-benzoate] results in decreased expression of GABRA4 mRNA	CTD	PMID:19394921
GABRA4	Human	3alpha-hydroxy-5beta-pregnan-20-one	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Pregnanolone deficiency results in increased expression of GABRA4 mRNA and Pregnanolone deficiency results in increased expression of GABRA4 protein	CTD	PMID:9651210
GABRA4	Human	3alpha-hydroxy-5beta-pregnan-20-one	multiple interactions	EXP		6480464	Pregnanolone results in increased activity of [GABRA4 protein binds to GABRB3 binds to GABRD protein]	CTD	PMID:29038840
GABRA4	Human	6-propyl-2-thiouracil	decreases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of GABRA4 mRNA	CTD	PMID:24780913
GABRA4	Human	8-Br-cAMP	increases expression	EXP		6480464	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of GABRA4 mRNA	CTD	PMID:22079614
GABRA4	Human	amitriptyline	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Amitriptyline results in increased expression of GABRA4 mRNA	CTD	PMID:21820738
GABRA4	Human	ammonium chloride	affects expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of GABRA4 mRNA	CTD	PMID:16483693
GABRA4	Human	androgen antagonist	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben co-treated with Androgen Antagonists co-treated with Acetaminophen] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	arsenite(3-)	increases methylation	EXP		6480464	arsenite results in increased methylation of GABRA4 promoter	CTD	PMID:23974009
GABRA4	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of GABRA4 mRNA	CTD	PMID:22378314
GABRA4	Human	benzamide	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB2 protein binds to GABRD protein]]	CTD	PMID:18762200
GABRA4	Human	benzamide	multiple interactions	EXP		6480464	benzamide analog binds to and results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein] and benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]]	CTD	PMID:18762200
GABRA4	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of GABRA4 5' UTR	CTD	PMID:27901495
GABRA4	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of GABRA4 3' UTR and Benzo(a)pyrene results in decreased methylation of GABRA4 promoter	CTD	PMID:27901495
GABRA4	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[Streptozocin co-treated with Dietary Fats co-treated with Diethylhexyl Phthalate] results in increased expression of GABRA4 mRNA	CTD	PMID:33484791
GABRA4	Human	bisphenol A	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben co-treated with Androgen Antagonists co-treated with Acetaminophen] results in decreased expression of GABRA4 mRNA and [bisphenol A co-treated with Estradiol] results in increased expression of GABRA4 mRNA	CTD	PMID:25607892 and PMID:26496021
GABRA4	Human	bisphenol A	increases expression	ISO	Gabra4 (Mus musculus)	6480464	bisphenol A results in increased expression of GABRA4 mRNA	CTD	PMID:32156529
GABRA4	Human	bisphenol A	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of GABRA4 mRNA	CTD	PMID:30816183
GABRA4	Human	bisphenol A	decreases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of GABRA4 mRNA	CTD	PMID:25181051 and PMID:34947998
GABRA4	Human	bleomycin A2	decreases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Bleomycin results in decreased expression of GABRA4 mRNA	CTD	PMID:15808516
GABRA4	Human	Butylparaben	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben co-treated with Androgen Antagonists co-treated with Acetaminophen] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	chlorpyrifos	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of GABRA4 mRNA	CTD	PMID:32715474
GABRA4	Human	Cuprizon	decreases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of GABRA4 mRNA	CTD	PMID:26577399
GABRA4	Human	DDE	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	delta-hexachlorocyclohexane	multiple interactions	EXP		6480464	delta-hexachlorocyclohexane results in decreased activity of [GABRA4 protein binds to GABRB2 protein binds to GABRG2 protein alternative form]	CTD	PMID:11156579
GABRA4	Human	diazepam	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Diazepam deficiency results in increased expression of GABRA4 mRNA and Diazepam results in increased expression of GABRA4 mRNA	CTD	PMID:11804615 and PMID:15802192
GABRA4	Human	diazepam	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	Diazepam inhibits the reaction [Ethanol deficiency results in increased expression of GABRA4 mRNA] and Diazepam inhibits the reaction [Ethanol deficiency results in increased expression of GABRA4 protein]	CTD	PMID:14684873
GABRA4	Human	dibutyl phthalate	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	diethylstilbestrol	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Diethylstilbestrol results in increased expression of GABRA4 mRNA	CTD	PMID:37077353
GABRA4	Human	dinitrogen oxide	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[Isoflurane co-treated with Nitrous Oxide] affects the expression of GABRA4 mRNA	CTD	PMID:16733821
GABRA4	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of GABRA4 mRNA	CTD	PMID:29803840
GABRA4	Human	enzacamene	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben co-treated with Androgen Antagonists co-treated with Acetaminophen] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	epoxiconazole	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	ethanol	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	Diazepam inhibits the reaction [Ethanol deficiency results in increased expression of GABRA4 mRNA] more ...	CTD	PMID:14684873 and PMID:17403139
GABRA4	Human	ethanol	affects splicing	ISO	Gabra4 (Mus musculus)	6480464	Ethanol affects the splicing of GABRA4 mRNA	CTD	PMID:30319688
GABRA4	Human	ethanol	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Ethanol deficiency results in increased expression of GABRA4 mRNA and Ethanol deficiency results in increased expression of GABRA4 protein	CTD	PMID:14684873 and PMID:17403139
GABRA4	Human	felbamate	multiple interactions	EXP		6480464	felbamate results in decreased activity of [GABRA4 protein binds to GABRB1 protein binds to GABRG2 protein alternative form] and felbamate results in decreased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]	CTD	PMID:17056029
GABRA4	Human	fipronil	multiple interactions	EXP		6480464	fipronil results in decreased activity of [GABRA4 protein binds to GABRB3 binds to GABRD protein] and fipronil results in decreased activity of [GABRA4 protein binds to GABRB3 binds to GABRG2 protein alternative form]	CTD	PMID:29038840
GABRA4	Human	flumazenil	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	Flumazenil inhibits the reaction [Ethanol deficiency results in increased expression of GABRA4 mRNA] and Flumazenil inhibits the reaction [Ethanol deficiency results in increased expression of GABRA4 protein]	CTD	PMID:17403139
GABRA4	Human	folic acid	decreases expression	ISO	Gabra4 (Mus musculus)	6480464	Folic Acid results in decreased expression of GABRA4 mRNA	CTD	PMID:25629700
GABRA4	Human	folpet	decreases expression	ISO	Gabra4 (Mus musculus)	6480464	folpet results in decreased expression of GABRA4 mRNA	CTD	PMID:31558096
GABRA4	Human	furosemide	decreases activity	ISO	Gabra4 (Rattus norvegicus)	6480464	Furosemide results in decreased activity of GABRA4 protein	CTD	PMID:15613639
GABRA4	Human	gamma-aminobutyric acid	multiple interactions	EXP		6480464	benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRD protein]] more ...	CTD	PMID:18762200 and PMID:29038840
GABRA4	Human	gamma-aminobutyric acid	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	benzamide analog promotes the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB2 protein binds to GABRD protein]] and gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB2 protein binds to GABRD protein]	CTD	PMID:18762200
GABRA4	Human	gamma-aminobutyric acid	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]] which results in increased transport of Chlorides and gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein co-treated with GABRB2 protein co-treated with GABRG2 protein]	CTD	PMID:11123204
GABRA4	Human	isoflurane	affects response to substance	ISO	Gabra4 (Mus musculus)	6480464	GABRA4 affects the susceptibility to Isoflurane	CTD	PMID:19923508
GABRA4	Human	isoflurane	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[Isoflurane co-treated with Nitrous Oxide] affects the expression of GABRA4 mRNA	CTD	PMID:16733821
GABRA4	Human	isotretinoin	decreases expression	EXP		6480464	Isotretinoin results in decreased expression of GABRA4 mRNA	CTD	PMID:20436886
GABRA4	Human	ketoconazole	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Ketoconazole results in increased expression of GABRA4 mRNA	CTD	PMID:37077353
GABRA4	Human	linuron	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of GABRA4 mRNA	CTD	PMID:35811015
GABRA4	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 more ...	CTD	PMID:35811015
GABRA4	Human	Lorazepam	affects expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Lorazepam affects the expression of GABRA4 mRNA	CTD	PMID:16107249
GABRA4	Human	Lorazepam	affects response to substance	ISO	Gabra4 (Rattus norvegicus)	6480464	GABRA4 protein affects the susceptibility to Lorazepam	CTD	PMID:12522171
GABRA4	Human	methylmercury chloride	decreases expression	ISO	Gabra4 (Mus musculus)	6480464	methylmercuric chloride results in decreased expression of GABRA4 mRNA	CTD	PMID:21385734
GABRA4	Human	midazolam	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Midazolam results in increased expression of GABRA4 mRNA	CTD	PMID:16733821
GABRA4	Human	morphine	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Morphine results in increased expression of GABRA4 mRNA	CTD	PMID:21178816
GABRA4	Human	niclosamide	increases expression	EXP		6480464	Niclosamide results in increased expression of GABRA4 mRNA	CTD	PMID:36318118
GABRA4	Human	paracetamol	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[bisphenol A co-treated with enzacamene co-treated with octylmethoxycinnamate co-treated with butylparaben co-treated with Androgen Antagonists co-treated with Acetaminophen] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	paracetamol	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of GABRA4 mRNA	CTD	PMID:33387578
GABRA4	Human	paraquat	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Paraquat results in increased expression of GABRA4 mRNA	CTD	PMID:18198484
GABRA4	Human	pentobarbital	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Pentobarbital results in increased expression of GABRA4 mRNA	CTD	PMID:16733821
GABRA4	Human	phorbol 13-acetate 12-myristate	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Tetradecanoylphorbol Acetate results in increased expression of GABRA4 mRNA	CTD	PMID:16091474
GABRA4	Human	phorbol 13-acetate 12-myristate	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	Tetradecanoylphorbol Acetate promotes the reaction [EGR3 protein binds to GABRA4 promoter]	CTD	PMID:16091474
GABRA4	Human	picrotoxinin	multiple interactions	EXP		6480464	picrotoxinin inhibits the reaction [gamma-Aminobutyric Acid results in increased activity of [GABRA4 protein binds to GABRB3 protein binds to GABRG2 protein alternative form]]	CTD	PMID:29038840
GABRA4	Human	pioglitazone	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[N-nitroso-tris-chloroethylurea co-treated with pioglitazone] results in decreased expression of GABRA4 mRNA	CTD	PMID:27935865
GABRA4	Human	pirinixic acid	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	pirinixic acid results in increased expression of GABRA4 mRNA	CTD	PMID:12832660
GABRA4	Human	prochloraz	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	procymidone	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	progesterone	affects expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Progesterone affects the expression of GABRA4 protein	CTD	PMID:12522171 and PMID:15834956
GABRA4	Human	progesterone	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Progesterone co-treated with estradiol 3-benzoate] results in decreased expression of GABRA4 mRNA	CTD	PMID:19394921
GABRA4	Human	progesterone	affects response to substance	ISO	Gabra4 (Rattus norvegicus)	6480464	GABRA4 protein affects the susceptibility to Progesterone	CTD	PMID:12522171
GABRA4	Human	propofol	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Propofol results in increased expression of GABRA4 mRNA	CTD	PMID:16733821
GABRA4	Human	razoxane	decreases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Razoxane results in decreased expression of GABRA4 mRNA	CTD	PMID:19915844
GABRA4	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of GABRA4 mRNA	CTD	PMID:23557933
GABRA4	Human	S-(1,2-dichlorovinyl)-L-cysteine	decreases expression	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine results in decreased expression of GABRA4 mRNA	CTD	PMID:35811015
GABRA4	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 more ...	CTD	PMID:35811015
GABRA4	Human	streptozocin	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[Streptozocin co-treated with Dietary Fats co-treated with Diethylhexyl Phthalate] results in increased expression of GABRA4 mRNA	CTD	PMID:33484791
GABRA4	Human	tacrine	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Tacrine results in increased expression of GABRA4 mRNA	CTD	PMID:12832660
GABRA4	Human	Testosterone propionate	increases expression	ISO	Gabra4 (Mus musculus)	6480464	Testosterone Propionate results in increased expression of GABRA4 mRNA	CTD	PMID:16957604
GABRA4	Human	tetrachloromethane	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of GABRA4 mRNA	CTD	PMID:12832660
GABRA4	Human	titanium dioxide	increases methylation	ISO	Gabra4 (Mus musculus)	6480464	titanium dioxide results in increased methylation of GABRA4 gene	CTD	PMID:35295148
GABRA4	Human	toluene	affects expression	ISO	Gabra4 (Rattus norvegicus)	6480464	Toluene affects the expression of GABRA4 mRNA	CTD	PMID:17108153
GABRA4	Human	vinclozolin	multiple interactions	ISO	Gabra4 (Rattus norvegicus)	6480464	[Dibutyl Phthalate co-treated with Diethylhexyl Phthalate co-treated with vinclozolin co-treated with prochloraz co-treated with procymidone co-treated with Linuron co-treated with epoxiconazole co-treated with Dichlorodiphenyl Dichloroethylene] results in decreased expression of GABRA4 mRNA	CTD	PMID:25607892
GABRA4	Human	XL147	multiple interactions	ISO	Gabra4 (Mus musculus)	6480464	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of GABRA4 mRNA	CTD	PMID:27935865
GABRA4	Human	zaleplon	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	zaleplon deficiency results in increased expression of GABRA4 mRNA	CTD	PMID:11804615
GABRA4	Human	zolpidem	increases expression	ISO	Gabra4 (Rattus norvegicus)	6480464	zolpidem deficiency results in increased expression of GABRA4 mRNA	CTD	PMID:11804615

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)
GABRA4	Human	central nervous system development	acts_upstream_of_or_within	IEA	UniProtKB:Q9D6F4 and ensembl:ENSMUSP00000031121	150520179		Ensembl	GO_REF:0000107
GABRA4	Human	chloride transmembrane transport	involved_in	IDA		150520179	PMID:35355020	ComplexPortal	PMID:35355020
GABRA4	Human	chloride transmembrane transport	involved_in	IBA	MGI:95623 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	chloride transmembrane transport	involved_in	IEA	GO:0005254	150520179		GOC	GO_REF:0000108
GABRA4	Human	chloride transport	involved_in	IEA	UniProtKB-KW:KW-0869	150520179		UniProt	GO_REF:0000043
GABRA4	Human	chloride transport	involved_in	IEA	InterPro:IPR005434	150520179		InterPro	GO_REF:0000002
GABRA4	Human	gamma-aminobutyric acid signaling pathway	involved_in	IDA		150520179	PMID:35355020	ComplexPortal	PMID:35355020
GABRA4	Human	gamma-aminobutyric acid signaling pathway	involved_in	IBA	MGI:95623 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	gamma-aminobutyric acid signaling pathway	involved_in	IEA	InterPro:IPR005434	150520179		InterPro	GO_REF:0000002
GABRA4	Human	gamma-aminobutyric acid signaling pathway	involved_in	TAS		150520179	PMID:8719416	PINC	PMID:8719416
GABRA4	Human	gamma-aminobutyric acid signaling pathway	involved_in	ISS	ComplexPortal:CPX-2954	150520179		ComplexPortal	GO_REF:0000114
GABRA4	Human	inhibitory synapse assembly	involved_in	IBA	MGI:95613 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	monoatomic ion transmembrane transport	involved_in	IEA	UniProtKB-KW:KW-0407	150520179		UniProt	GO_REF:0000043
GABRA4	Human	monoatomic ion transmembrane transport	involved_in	IEA	GO:0005216 and GO:0005230	150520179		GOC	GO_REF:0000108
GABRA4	Human	monoatomic ion transmembrane transport	involved_in	IEA	InterPro:IPR006028 and InterPro:IPR006201	150520179		InterPro	GO_REF:0000002
GABRA4	Human	monoatomic ion transport	involved_in	IEA	InterPro:IPR001390 more ...	150520179		InterPro	GO_REF:0000002
GABRA4	Human	monoatomic ion transport	involved_in	IEA	UniProtKB-KW:KW-0406	150520179		UniProt	GO_REF:0000043
GABRA4	Human	regulation of postsynaptic membrane potential	involved_in	IEA	GO:1904315	150520179		GOC	GO_REF:0000108
GABRA4	Human	synaptic transmission, GABAergic	involved_in	NAS		150520179	PMID:35355020	ComplexPortal	PMID:35355020
GABRA4	Human	synaptic transmission, GABAergic	involved_in	IBA	PANTHER:PTN000436343 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)
GABRA4	Human	chloride channel complex	part_of	IEA	UniProtKB-KW:KW-0869	150520179		UniProt	GO_REF:0000043
GABRA4	Human	dendrite membrane	is_active_in	IBA	PANTHER:PTN000436343 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	GABA-A receptor complex	part_of	ISS	ComplexPortal:CPX-2954	150520179		ComplexPortal	GO_REF:0000114
GABRA4	Human	GABA-A receptor complex	part_of	IBA	MGI:95623 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	GABA-A receptor complex	part_of	IEA	UniProtKB:P28471 and ensembl:ENSRNOP00000003191	150520179		Ensembl	GO_REF:0000107
GABRA4	Human	GABA-A receptor complex	part_of	IPI		150520179	PMID:35355020	ComplexPortal	PMID:35355020
GABRA4	Human	GABA-ergic synapse	is_active_in	IEA	UniProtKB:P28471 and ensembl:ENSRNOP00000003191	150520179		Ensembl	GO_REF:0000107
GABRA4	Human	membrane	located_in	IEA	InterPro:IPR001390 more ...	150520179		InterPro	GO_REF:0000002
GABRA4	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GABRA4	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
GABRA4	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
GABRA4	Human	plasma membrane	located_in	TAS		150520179	PMID:8719416	Reactome	PMID:8719416 and Reactome:R-HSA-975340
GABRA4	Human	postsynapse	is_active_in	IBA	MGI:95614 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	postsynaptic membrane	located_in	IEA	UniProtKB-SubCell:SL-0219	150520179		UniProt	GO_REF:0000044
GABRA4	Human	postsynaptic membrane	located_in	IEA	UniProtKB-KW:KW-0628	150520179		UniProt	GO_REF:0000043
GABRA4	Human	postsynaptic specialization membrane	is_active_in	IEA	UniProtKB:P28471 and ensembl:ENSRNOP00000003191	150520179		Ensembl	GO_REF:0000107
GABRA4	Human	synapse	located_in	IEA	UniProtKB-KW:KW-0770	150520179		UniProt	GO_REF:0000043

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)
GABRA4	Human	benzodiazepine receptor activity	enables	TAS		150520179	PMID:8719416	PINC	PMID:8719416
GABRA4	Human	benzodiazepine receptor activity	contributes_to	IBA	PANTHER:PTN001055383 and Gabra6 (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	chloride channel activity	enables	IEA	UniProtKB-KW:KW-0869	150520179		UniProt	GO_REF:0000043
GABRA4	Human	chloride channel activity	contributes_to	IBA	MGI:95613 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	extracellular ligand-gated monoatomic ion channel activity	enables	IEA	InterPro:IPR006202 and InterPro:IPR036734	150520179		InterPro	GO_REF:0000002
GABRA4	Human	GABA-A receptor activity	enables	IEA	InterPro:IPR001390 and InterPro:IPR005434	150520179		InterPro	GO_REF:0000002
GABRA4	Human	GABA-A receptor activity	contributes_to	IBA	PANTHER:PTN001055383 and Gabra6 (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	GABA-gated chloride ion channel activity	enables	IBA	MGI:95617 more ...	150520179		GO_Central	GO_REF:0000033
GABRA4	Human	monoatomic ion channel activity	enables	IEA	InterPro:IPR001390 more ...	150520179		InterPro	GO_REF:0000002
GABRA4	Human	transmembrane signaling receptor activity	enables	IEA	InterPro:IPR006028 and InterPro:IPR006201	150520179		InterPro	GO_REF:0000002
GABRA4	Human	transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	enables	IEA	UniProtKB:P28471 and ensembl:ENSRNOP00000003191	150520179		Ensembl	GO_REF:0000107

#	Reference Title	Reference Citation
1.	Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.	Collins AL, etal., Neurogenetics. 2006 Jul;7(3):167-74. Epub 2006 Jun 13.
2.	mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism.	Fatemi SH, etal., J Autism Dev Disord. 2010 Jun;40(6):743-50.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:7607683	PMID:8175718	PMID:8719416	PMID:10414349	PMID:10903861	PMID:12091471	PMID:12242096	PMID:12477932	PMID:14702039	PMID:15028279	PMID:16080114	PMID:17124266
PMID:17135278	PMID:18334916	PMID:18482426	PMID:19078961	PMID:19207358	PMID:19289452	PMID:19736351	PMID:19834535	PMID:19874574	PMID:19913121	PMID:20468064	PMID:20602615
PMID:20628086	PMID:21244100	PMID:21422964	PMID:21832049	PMID:21873635	PMID:21988832	PMID:22273344	PMID:23561058	PMID:23937595	PMID:24431441	PMID:24722188	PMID:24778259
PMID:26239769	PMID:29135068	PMID:29151244	PMID:29299688	PMID:29720720	PMID:29987050	PMID:31690811	PMID:32028044	PMID:35152403	PMID:35355020	PMID:38565639

GABRA4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	46,918,900 - 46,993,581 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	46,918,900 - 46,993,581 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	46,920,917 - 46,995,598 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	46,615,674 - 46,690,337 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	46,761,846 - 46,836,508	NCBI
Celera	4	47,369,879 - 47,444,600 (-)	NCBI		Celera
Cytogenetic Map	4	p12	NCBI
HuRef	4	46,239,865 - 46,315,415 (-)	NCBI		HuRef
CHM1_1	4	46,920,103 - 46,995,631 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	46,886,225 - 46,960,936 (-)	NCBI		T2T-CHM13v2.0

Gabra4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	71,727,077 - 71,815,651 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	71,727,092 - 71,815,651 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	71,569,734 - 71,658,308 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	71,569,749 - 71,658,308 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	71,960,973 - 72,049,547 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	71,848,869 - 71,937,443 (-)	NCBI		MGSCv36	mm8
Celera	5	68,834,068 - 68,922,930 (-)	NCBI		Celera
Cytogenetic Map	5	C3.2	NCBI
cM Map	5	38.08	NCBI

Gabra4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	36,944,747 - 37,021,652 (+)	NCBI		GRCr8
mRatBN7.2	14	36,590,782 - 36,667,724 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	36,590,782 - 36,665,844 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	36,935,370 - 37,010,517 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	38,240,130 - 38,315,273 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	36,728,476 - 36,803,610 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	39,154,072 - 39,230,994 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	39,154,529 - 39,231,695 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	38,966,016 - 39,040,606 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	39,047,461 - 39,122,531 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	39,049,851 - 39,124,917 (+)	NCBI
Celera	14	35,813,603 - 35,888,671 (+)	NCBI		Celera
Cytogenetic Map	14	p11	NCBI

Gabra4
(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_004955443	1,564,202 - 1,632,580 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955443	1,564,794 - 1,631,975 (+)	NCBI	ChiLan1.0	ChiLan1.0

GABRA4
(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	3	80,876,574 - 80,952,059 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	81,138,247 - 81,213,682 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	75,163,796 - 75,240,049 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	85,894,401 - 85,970,077 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	85,894,401 - 85,960,783 (+)	Ensembl	panpan1.1		panPan2

GABRA4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	42,889,100 - 42,958,604 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	42,897,655 - 42,959,206 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	42,690,028 - 42,908,686 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	43,345,979 - 43,564,367 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	43,500,264 - 43,565,899 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	43,023,386 - 43,242,431 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	43,085,285 - 43,303,834 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	43,439,087 - 43,657,538 (-)	NCBI		UU_Cfam_GSD_1.0

Gabra4
(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_024405285	33,123,748 - 33,190,987 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936482	13,109,803 - 13,174,492 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936482	13,109,803 - 13,174,492 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GABRA4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	36,874,331 - 36,942,773 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	36,875,649 - 36,943,016 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	38,744,693 - 38,811,740 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GABRA4
(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	27	3,253,789 - 3,323,102 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	27	3,254,735 - 3,321,128 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	49,315,895 - 49,393,069 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gabra4
(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_004624761	20,071,316 - 20,132,098 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624761	20,071,343 - 20,132,523 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GABRA4
46 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000809.3(GABRA4):c.*3958A>G	single nucleotide variant	Lung cancer [RCV000094851]	Chr4:46924267 [GRCh38] Chr4:46926284 [GRCh37] Chr4:4p12	uncertain significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	copy number gain	See cases [RCV000050683]	Chr4:44356201..62245882 [GRCh38] Chr4:44358218..63111600 [GRCh37] Chr4:44052975..62794195 [NCBI36] Chr4:4p13-q13.1	pathogenic
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	copy number gain	See cases [RCV000240190]	Chr4:38532827..49064044 [GRCh37] Chr4:4p14-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	copy number gain	See cases [RCV000051770]	Chr4:44577678..49081273 [GRCh38] Chr4:44579695..49083290 [GRCh37] Chr4:44274452..48778047 [NCBI36] Chr4:4p13-11	pathogenic
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	copy number gain	See cases [RCV000134946]	Chr4:40496476..49579850 [GRCh38] Chr4:40498493..49581867 [GRCh37] Chr4:40193250..49276624 [NCBI36] Chr4:4p14-11	pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_000809.4(GABRA4):c.87-21dup	duplication	not specified [RCV000455379]	Chr4:46992955..46992956 [GRCh38] Chr4:46994972..46994973 [GRCh37] Chr4:4p12	benign
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_000809.4(GABRA4):c.859G>T (p.Ala287Ser)	single nucleotide variant	not specified [RCV004303380]	Chr4:46971098 [GRCh38] Chr4:46973115 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	copy number gain	not provided [RCV000682397]	Chr4:42193789..47001790 [GRCh37] Chr4:4p13-12	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_000809.4(GABRA4):c.1427G>A (p.Arg476His)	single nucleotide variant	not specified [RCV004329440]	Chr4:46928463 [GRCh38] Chr4:46930480 [GRCh37] Chr4:4p12	likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_000809.4(GABRA4):c.1431C>T (p.His477=)	single nucleotide variant	not provided [RCV000903181]	Chr4:46928459 [GRCh38] Chr4:46930476 [GRCh37] Chr4:4p12	benign
NM_000809.4(GABRA4):c.136G>A (p.Glu46Lys)	single nucleotide variant	not specified [RCV004317788]	Chr4:46992897 [GRCh38] Chr4:46994914 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1005C>T (p.Ile335=)	single nucleotide variant	not provided [RCV000898285]	Chr4:46965099 [GRCh38] Chr4:46967116 [GRCh37] Chr4:4p12	benign
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	copy number gain	Autism [RCV000993707]	Chr4:45868775..48273513 [GRCh37] Chr4:4p12-11	likely pathogenic
NM_000809.4(GABRA4):c.1626A>G (p.Leu542=)	single nucleotide variant	not provided [RCV000940447]	Chr4:46928264 [GRCh38] Chr4:46930281 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.375G>A (p.Thr125=)	single nucleotide variant	not provided [RCV000910035]	Chr4:46977529 [GRCh38] Chr4:46979546 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.975C>G (p.Val325=)	single nucleotide variant	not provided [RCV000913305]	Chr4:46965129 [GRCh38] Chr4:46967146 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.273+7A>G	single nucleotide variant	not provided [RCV000935194]	Chr4:46979024 [GRCh38] Chr4:46981041 [GRCh37] Chr4:4p12	likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_000809.4(GABRA4):c.55G>A (p.Ala19Thr)	single nucleotide variant	not provided [RCV000948676]	Chr4:46993370 [GRCh38] Chr4:46995387 [GRCh37] Chr4:4p12	benign
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_000809.4(GABRA4):c.718A>T (p.Thr240Ser)	single nucleotide variant	not specified [RCV004107426]	Chr4:46974235 [GRCh38] Chr4:46976252 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1402G>C (p.Ala468Pro)	single nucleotide variant	not specified [RCV004206259]	Chr4:46928488 [GRCh38] Chr4:46930505 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.619G>T (p.Gly207Cys)	single nucleotide variant	not specified [RCV004112149]	Chr4:46974334 [GRCh38] Chr4:46976351 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1197T>G (p.Asp399Glu)	single nucleotide variant	not specified [RCV004194034]	Chr4:46928693 [GRCh38] Chr4:46930710 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1277G>A (p.Arg426Gln)	single nucleotide variant	not specified [RCV004189703]	Chr4:46928613 [GRCh38] Chr4:46930630 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.1184A>G (p.His395Arg)	single nucleotide variant	not specified [RCV004265321]	Chr4:46928706 [GRCh38] Chr4:46930723 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1087C>T (p.Pro363Ser)	single nucleotide variant	GABRA4-related Epileptic and Neurodevelopmental Disorder [RCV003228617]	Chr4:46965017 [GRCh38] Chr4:46967034 [GRCh37] Chr4:4p12	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile)	single nucleotide variant	not provided [RCV003490907]	Chr4:46965205 [GRCh38] Chr4:46967222 [GRCh37] Chr4:4p12	uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_000809.4(GABRA4):c.634G>A (p.Val212Ile)	single nucleotide variant	not provided [RCV004729510]	Chr4:46974319 [GRCh38] Chr4:46976336 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.341T>A (p.Ile114Asn)	single nucleotide variant	not provided [RCV004766033]	Chr4:46977563 [GRCh38] Chr4:46979580 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.594T>G (p.Ser198Arg)	single nucleotide variant	not provided [RCV004763850]		uncertain significance
NM_000809.4(GABRA4):c.467G>A (p.Arg156Lys)	single nucleotide variant	not specified [RCV004922062]	Chr4:46977437 [GRCh38] Chr4:46979454 [GRCh37] Chr4:4p12	uncertain significance
NC_000004.11:g.(?_46252325)_(47163506_?)del	deletion	not provided [RCV001967602]	Chr4:46252325..47163506 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1158G>A (p.Met386Ile)	single nucleotide variant	not provided [RCV004786163]	Chr4:46928732 [GRCh38] Chr4:46930749 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.694T>G (p.Ser232Ala)	single nucleotide variant	not specified [RCV004136098]	Chr4:46974259 [GRCh38] Chr4:46976276 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.691G>C (p.Val231Leu)	single nucleotide variant	not specified [RCV004130294]	Chr4:46974262 [GRCh38] Chr4:46976279 [GRCh37] Chr4:4p12	uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
NM_000809.4(GABRA4):c.376A>C (p.Lys126Gln)	single nucleotide variant	not specified [RCV004358661]	Chr4:46977528 [GRCh38] Chr4:46979545 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.899C>A (p.Thr300Asn)	single nucleotide variant	GABRA4-related developmental and epileptic encephalopathy [RCV003484218]	Chr4:46965205 [GRCh38] Chr4:46967222 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1063A>G (p.Thr355Ala)	single nucleotide variant	GABRA4-related disorder [RCV003929801]	Chr4:46965041 [GRCh38] Chr4:46967058 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.1474A>G (p.Thr492Ala)	single nucleotide variant	not specified [RCV004390127]	Chr4:46928416 [GRCh38] Chr4:46930433 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1110G>C (p.Glu370Asp)	single nucleotide variant	not specified [RCV004390124]	Chr4:46964994 [GRCh38] Chr4:46967011 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.334G>A (p.Gly112Ser)	single nucleotide variant	not specified [RCV004390130]	Chr4:46977570 [GRCh38] Chr4:46979587 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1656T>A (p.Ser552Arg)	single nucleotide variant	not specified [RCV004390129]	Chr4:46928234 [GRCh38] Chr4:46930251 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1225C>G (p.His409Asp)	single nucleotide variant	not specified [RCV004390126]	Chr4:46928665 [GRCh38] Chr4:46930682 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1517C>T (p.Ser506Leu)	single nucleotide variant	not specified [RCV004390128]	Chr4:46928373 [GRCh38] Chr4:46930390 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.341T>C (p.Ile114Thr)	single nucleotide variant	not specified [RCV004390132]	Chr4:46977563 [GRCh38] Chr4:46979580 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1393C>T (p.Pro465Ser)	single nucleotide variant	not specified [RCV004619042]	Chr4:46928497 [GRCh38] Chr4:46930514 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.1408G>A (p.Val470Ile)	single nucleotide variant	not specified [RCV004619043]	Chr4:46928482 [GRCh38] Chr4:46930499 [GRCh37] Chr4:4p12	likely benign
NM_000809.4(GABRA4):c.869T>C (p.Val290Ala)	single nucleotide variant	not provided [RCV004764155]		uncertain significance
NM_000809.4(GABRA4):c.1090G>A (p.Ala364Thr)	single nucleotide variant	not specified [RCV004922061]	Chr4:46965014 [GRCh38] Chr4:46967031 [GRCh37] Chr4:4p12	uncertain significance
NM_000809.4(GABRA4):c.1565C>G (p.Ala522Gly)	single nucleotide variant	not specified [RCV004930372]	Chr4:46928325 [GRCh38] Chr4:46930342 [GRCh37] Chr4:4p12	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	5691
Count of miRNA genes:	1363
Interacting mature miRNAs:	1784
Transcripts:	ENST00000264318, ENST00000502874, ENST00000508560, ENST00000509316, ENST00000511523
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
597109445	GWAS1205519_H	mathematical ability QTL GWAS1205519 (human)		5e-08	mathematical ability		4	46947753	46947754	Human
597170363	GWAS1266437_H	educational attainment QTL GWAS1266437 (human)		2e-08	educational attainment		4	46935603	46935604	Human
597030896	GWAS1126970_H	Mental deterioration QTL GWAS1126970 (human)		0.0000005	Mental deterioration		4	46941670	46941671	Human
597061888	GWAS1157962_H	tonsillectomy risk measurement QTL GWAS1157962 (human)		0.000001	tonsillectomy risk measurement		4	46958543	46958544	Human
597213615	GWAS1309689_H	mathematical ability QTL GWAS1309689 (human)		3e-11	mathematical ability		4	46947753	46947754	Human
407147240	GWAS796216_H	type 2 diabetes mellitus QTL GWAS796216 (human)		0.000001	type 2 diabetes mellitus		4	46966033	46966034	Human

D5S1969

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	53,242,847 - 53,243,107	UniSTS	GRCh37
GRCh37	4	46,980,273 - 46,981,838	UniSTS	GRCh37
Build 36	5	53,278,604 - 53,278,864	RGD	NCBI36
Celera	4	47,429,267 - 47,430,834	UniSTS
Celera	5	50,196,476 - 50,196,724	RGD
Cytogenetic Map	4	p12	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
HuRef	4	46,299,237 - 46,300,804	UniSTS
HuRef	5	50,215,230 - 50,215,478	UniSTS
Marshfield Genetic Map	5	60.92	RGD
Marshfield Genetic Map	5	60.92	UniSTS
Genethon Genetic Map	5	61.1	UniSTS
deCODE Assembly Map	5	68.9	UniSTS

SHGC-67811

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,928,367 - 46,928,518	UniSTS	GRCh37
Build 36	4	46,623,124 - 46,623,275	RGD	NCBI36
Celera	4	47,377,329 - 47,377,480	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	46,247,309 - 46,247,460	UniSTS

G62895

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,940,380 - 46,940,677	UniSTS	GRCh37
Build 36	4	46,635,137 - 46,635,434	RGD	NCBI36
Celera	4	47,389,372 - 47,389,669	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	46,259,324 - 46,259,621	UniSTS

GDB:633093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,995,094 - 46,995,317	UniSTS	GRCh37
Build 36	4	46,689,851 - 46,690,074	RGD	NCBI36
Celera	4	47,444,114 - 47,444,337	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	46,314,085 - 46,314,308	UniSTS

RH106543

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,961,749 - 46,961,940	UniSTS	GRCh37
Build 36	4	46,656,506 - 46,656,697	RGD	NCBI36
Celera	4	47,410,741 - 47,410,932	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	46,280,716 - 46,280,907	UniSTS

D4S3242

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,927,670 - 46,927,928	UniSTS	GRCh37
Build 36	4	46,622,427 - 46,622,685	RGD	NCBI36
Celera	4	47,376,632 - 47,376,890	RGD
Cytogenetic Map	4	p12	UniSTS
HuRef	4	46,246,618 - 46,246,870	UniSTS

D5Buc33

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	46,979,490 - 46,981,093	UniSTS	GRCh37
Celera	4	47,428,484 - 47,430,089	UniSTS
HuRef	4	46,298,454 - 46,300,059	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	renal system	reproductive system	respiratory system	sensory system	visual system
873	2031	2490	2179	4573	1084	1225	4	245	894	138	1979	5005	4633	7	3602	411	1167	945	112	1


RefSeq Transcripts	NG_011809	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000809	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001204266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001204267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC107383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF238869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC037926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI599812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD013892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD013893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ534840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KJ535037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U20166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U30461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000264318 ⟹ ENSP00000264318

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	46,918,900 - 46,993,581 (-)	Ensembl

Ensembl Acc Id:

ENST00000502874 ⟹ ENSP00000424386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	46,971,083 - 46,993,540 (-)	Ensembl

Ensembl Acc Id:

ENST00000508560 ⟹ ENSP00000425445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	46,928,127 - 46,993,505 (-)	Ensembl

Ensembl Acc Id:

ENST00000509316

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	46,992,670 - 46,993,548 (-)	Ensembl

Ensembl Acc Id:

ENST00000511523 ⟹ ENSP00000422152

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	46,928,127 - 46,993,505 (-)	Ensembl

RefSeq Acc Id:

NM_000809 ⟹ NP_000800

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	46,918,900 - 46,993,581 (-)	NCBI
GRCh37	4	46,920,917 - 46,996,424 (-)	ENTREZGENE
Build 36	4	46,615,674 - 46,690,337 (-)	NCBI Archive
HuRef	4	46,239,865 - 46,315,415 (-)	ENTREZGENE
CHM1_1	4	46,920,103 - 46,995,631 (-)	NCBI
T2T-CHM13v2.0	4	46,886,225 - 46,960,936 (-)	NCBI

Sequence:

show sequence

ACACGCCCACCGCGGCTCGGGCTGGCTGAGCGCGGGCGAGTGTGAGCGCGAGTGTGCGCACGCCGCGGGAGCCTCTCTGCCCTCTCCTCGCACCCTGCTCAGGGCATCTGAAGAGCCTGGAAACGTGA
ACAGGCTTGAAGTATGGCATGTTGCAAAGATGGTTTCTGCCAAGAAGGTACCCGCGATCGCTCTGTCCGCCGGGGTCAGTTTCGCCCTCCTGCGCTTCCTGTGCCTGGCGGTTTGTTTAAACGAATCC
CCAGGACAGAACCAAAAGGAGGAGAAATTGTGCACAGAAAATTTCACCCGCATCCTGGACAGTTTGCTCGATGGTTATGACAACAGGCTGCGTCCTGGATTTGGGGGTCCTGTTACAGAAGTGAAAAC
TGACATATATGTCACCAGCTTTGGACCTGTTTCTGATGTTGAAATGGAATACACAATGGATGTGTTCTTCAGGCAGACATGGATTGACAAAAGATTAAAATATGACGGCCCCATTGAAATTTTGAGAT
TGAACAATATGATGGTAACGAAAGTGTGGACCCCTGATACTTTCTTCAGGAATGGAAAGAAATCTGTCTCACATAATATGACAGCTCCAAATAAGCTTTTTAGAATTATGAGAAATGGTACTATTTTA
TACACAATGAGACTCACCATAAGTGCGGAGTGTCCCATGAGATTGGTGGATTTTCCCATGGATGGTCATGCATGCCCTTTGAAATTCGGGAGTTATGCCTATCCAAAGAGTGAGATGATCTATACCTG
GACAAAAGGTCCTGAGAAATCAGTTGAAGTTCCGAAGGAGTCTTCCAGCTTAGTTCAATATGATTTGATTGGGCAAACCGTATCAAGTGAAACCATCAAATCAATTACGGGTGAATATATTGTTATGA
CGGTTTACTTCCACCTCAGACGGAAGATGGGTTATTTTATGATTCAGACCTATATTCCGTGCATTATGACAGTGATTCTTTCTCAAGTTTCATTTTGGATAAATAAAGAATCAGTTCCCGCTAGGACT
GTATTTGGAATAACAACTGTCCTCACCATGACCACACTAAGCATCAGTGCACGACATTCTTTGCCCAAAGTGTCCTATGCTACCGCCATGGACTGGTTCATAGCTGTCTGCTTTGCTTTTGTATTTTC
GGCCCTTATCGAGTTTGCTGCTGTCAACTATTTCACCAATATTCAAATGGAAAAAGCCAAAAGGAAGACATCAAAGCCCCCTCAGGAAGTTCCCGCTGCTCCAGTGCAGAGAGAGAAGCATCCTGAAG
CCCCTCTGCAGAATACAAATGCCAATTTGAACATGAGAAAAAGAACAAATGCTTTGGTTCACTCTGAATCTGATGTTGGCAACAGAACTGAGGTGGGAAACCATTCAAGCAAATCTTCCACAGTTGTT
CAAGAATCTTCTAAAGGCACACCTCGGTCTTACTTAGCTTCCAGTCCAAACCCATTCAGCCGTGCAAATGCAGCTGAAACCATATCTGCAGCAAGAGCACTTCCATCTGCTTCTCCTACTTCTATCCG
AACTGGATATATGCCTCGAAAGGCTTCAGTTGGATCTGCTTCTACTCGTCACGTGTTTGGATCAAGACTGCAGAGGATAAAGACCACAGTTAATACCATAGGGGCTACTGGGAAGTTGTCAGCTACTC
CTCCTCCATCGGCTCCACCACCTTCTGGATCTGGCACAAGTAAAATAGACAAATATGCCCGTATTCTCTTTCCAGTCACATTTGGGGCATTTAACATGGTTTATTGGGTTGTTTATTTATCTAAGGAC
ACTATGGAGAAATCAGAAAGTCTAATGTAATTTCGTTGCTATAGTAGTTTGCTAAAAGATGATGAAAATGCAGAATGTCTTTTTAAATGTTTTTAAATATAAACAAATATTCTTTACTAAAATAAAAA
CTCTGTGTAATTTTTCCATTTAAAGATATAAGCCAGTTATTGGGAGAGTTAATTAATTCCTGAGTGAAAAAGTGAACTATGTTTTTTTTCAGAAAAATTATTTTAAAAGAACTCAGCATTCAGTTAGA
TAGAATACACACCATCCTGGAAAGTTGGGATAAGAGAAATAGAGCTATTAGAGACAAGTGGCGCATATTTTTTCATTGATATTTGAAAACAGACTATGACATTTTAAAAATCTGCCCTATGAGTATCA
ACCTGCCACCCTAAATTTCCCAGTGGCACTACCCTTAACCAGAATTGTTTATTAGATGTCATATGCAGTGACCTTTGGTGATCTTCTTAGGAACTTCAAGAAAAGGAATTTTCCTGTTAAATTAAACA
TTGGCAAAAGGAAATGGAATAGTATAAACACTGATCAATAGAGTAAAATATCTGCTGCATAAAAAACTAAGACAAAGACCAGAGGAAATATCTTCCCTTTCTTATGTTGGCTAAACAGTACTTAACAG
TTGACTTGAAATTTTGTTCTCTGAGCCAAAGTTTAACTCATTGTATGAATTCTTTTTCATGGTAGTTCATTCAGTTATGTGTTTATTTACTACATAGTTATTCAGAGCCTACTGTGTTCCAGGAACTA
TGCTAGAAACTGTCTCTCTAGGAAAGCTCTTGCACCTTTATCTACAATATTACTTAAAAAGTAGAACAGTCAATGCATGCCAAAGAACCATAAACTAGCAGAGGACATTGCATTCTTTAGTGAAGGAC
ATTTATTTAGAGTCTGACAACATATTCAAAATATTTTTCAGCCTCTACTGATAGTGGATAACAAATATATTTGTTCACATAACCACTTTGATGTCAGTACAACTTCAGCAATTGGTTTTCAAAATAGA
TGAGAATATGGTACAGATTGTTCTATAAGTGAAAAGCATTATGTACTTGAAAGTAAAAATCAGGGCAATATAAGACTTAATAGATTAACTGTCGCAAATTTGATCAGAGTCACAGAGTAGAATTTGAT
CAGAATCACAGAATCATCAGACATAGGAACTGAGCACAGGCTTTTTCAGGTGCTTTCCCCAAGATAGATCTAGATATTAGCTAGTGAAATGCTAAATTTTGAAGAGTTTTGTGTCCGTAGTTCTGTAA
TTCTGGGCAGTCATCATGTTGGTTTTTTTGGGAGTTTTTTTAAGGTTTAATAACTAAGGGGAATATTTTAAAATTAAGAGAGCAGCAAATGAAAGGAGTAAAGAAAAAAATAGCTGTCGGGTAGGATG
CCACTGACTCTGCTATGTGATTTATCAGGGTTTTCATCTACTGACTTCTTTCTCATTAGGTAGGCTTAACAACTTACTTGAGAATTTTGCAACTGTCTATGCAGCTGAATCTAAGTATGGTTTTTTGT
CATATTGCCTCTAGATTTTCTTCTGTGCTTCTCTCTATCTGCTCTGGAATGGATGAGTGAATGTGTTCTGGGTGTTTTAGGGAACATATTGATAGAAATGACCACCTTGCAGACAAAATCTCTCTCTC
TCTTTTTGTTTTTATAGAAAAGAAGTGATAGTAGTTAATTGGCATCGATTTTTCAGATATTGCACTACCTTATAATGGTTGTTTTTGATACCTGAAAATTGTGCAAATGCCAAATATTAATTGTAAGT
CATATCTGAGAAATCATTCTTGGCTGTCTTTCTAGGTATTCCATAGAATCAACACATTTTAAGGCTGAAAGATACTGTCGAAATCACCCAGTCCCAACCCCCCAATTTAAAATTGATTCTAGTAAAAT
TAGGTCCAGTAACACCTGTATATATGTATATATTTAATAAAGAGTACTTGTACAAAAAAGCTTATCATAAATTATTTCATGAATGTGAATAGATTTCTGGCCTTGAGGACGATGTTTGGAAATATGGT
TGGAAGCACAATTCATTCGCTACTAGTTATTCAGAGCGTACTTTGTTCCAGGAACTATGCTGGAAACTGATAGTTCACTATTCTGATGAAAAGGCTGGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGT
TGTTTTTGGTGAGGAACTCTTACTCTTTGCTAATCTATTGGCCTATCTTAAGAAATAATTATTTGGTTATTCATTGGCTTCCTTTAAAAAAAAGTGTTCTTCTACAAATCTTACAGAGTGTAAAGAGA
TAAAAAGAAATGATTTTTTTTCTTACCTTTACATATGAAGGTTTAAAAATACATCATGTGGCCAAAGAATGAGAAAGGACAGAATTAACCAAGGATTCTTAATTGTTAATTTGAAGAACACATTAACC
AGAAAGCTTAAACATTATTATTAAAATAAATTATTTCATTTGCACACAATGATAATAATGATGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATATGTTGTTTGCTTTCCTTAAC
TGAATTTCATCAAATTCATTCAGTGATTTTTATTTTGGTCATTATTTCTATCTTCCCAATAACCCAGAGGTACATCAAGTAAAAACACTTTTGCAAAGAGCCAGTCACTTTTCCCTCTTAGAAAATCT
CAGAAGAATGATTAGGGGCACCCAAAGTTCTGGTTATCTATGAATAATAATGAATAATTTTGGCTGAGAATGGTACCTTTATATAACTCTTTTAAAGATGAAATTCAGAATAATTTTATTCAGGACCT
AGTATCTGCAGTCCATGTTGGCCACTAACTGCTACATAATTACTTTCAATTTCCTCCAGGCATGACTAGGTATAAACATATATTTACATGATTAATCCACATTTTAAAATGACTTGCACTTGTGCATA
TACATAGTACTTTGAATAATGTATATTTTAAATTGGACCTCACAAATCTTGTATTAAAGTAGGTAGAGAGTAGAGTCACACTTTTTTTGATGAAATGAGTCACAGAGAAGTTACATGACAAAGATAAA
ATCACAGGGTTGGAAAGAACTTTGAAAGGTCATTTTTCAATAATCTCACCTTAAAAGTGACCCCTTTTCAAACAAAGCATAAACAATTTATTTGTGGCTTATTTTACCCATGAGCTGGCCAATACTTC
CTGGCCTAGAAAAATATCTCCACTCTCCCCATTCCTGTTCTTAATGGTCTTCTCTTCTCAATTTGTAAATATTCTCCAGTAAAAGACACCAGGTGTGGAGATGGGTCACTTAATTTCAAGTTCTGAGT
GTCTTGTGGTTTTAAACAAGTCTCTTAACCTCTCTAAGACTGATTCCTCATTTATAACAGGGAGGAGGTGGATTATGTAATATCTAAGAGCTTTTCAGTTTTAATACTCTCTGATTCTCATAGTAAAT
ACAAGCATACTCTTGTAAGAAAAACACTGAATACTTTGAACCACAAATAAGTGTTTATGGACAAAAATTTAGTTCTACTGCTTGATTACTTTAAGTTCATTGCTTGCTTCAAACTAAGGTTTCCCTAC
CTTCAAAAATATATATAACATCTCTCCATTTAGATAAAGTATATTCTTCCCCAGGGAAGACTGTATTCTTTAAAGACAGTAGAATATTGGCTATTTCTCTTTTCTGGGATTTCCTGGGCTTTTATTCA
CTAAATGGGCTCCTGCCCAGTTTGGGTACTGTGCTGATTTTTAGATATACAGAGATAAAAATAGCCCCTTTCCTTGCAGGTAGTCACAGTCCGGAAGAGATGATAGATGCATAGACAAAAAATTATGG
GATGTAACTAATGCTTCAGTAGAATACAGCAGGGCCAAAACTAGAGTGATACTCATCTCAGGCACAAATATATATGGGGACATCAAAACTTCAATAATCAAGATACCTAATATTTAAGTGAATATTTT
TAAAACTCAAAATTAATGCAAAAGATTTATGATGAACAGAATATACAAATTTTAAATAAATTAATAGAATCAGTAGTAATAATATTTTCTTCTGCCTCAGGCTCCAAAATTGCTCAGCATAGCACTGA
TCTAGATAGAGGTGGATAAAAGATCCACATAACTTAATTACATTGTTGAAGGAGAGGAACAAGAGTGATAGCAGAGAAGGTTTCACAGATATAATCTTAAGCTAAATTTTATAGAATGATTTGGAGTT
CTTATAGCCTCCATTCCCACTTCCACAAACAAACAAAAAAATGAAAGCGCAATTTTATCAGCACCTGAGGCAGGAGAAGAGATGAGGATGTGGAAAGTCAAGGGGAACTCTTACTACAAATTCTTAGT
TCTGTGTTTGGAGGTAAGGGTGAATGCAGGGAAGTGAGAGTTGTTGATGTTGGAAAGACCTAAAGAGCCTGGATTAGGAAGAGTTTTGTGTAAATTACTGAAGGAATGGAATTTGATCAGGATTAGTG
GCAATTTATTAAAAATCTTGAAGAATAATACGATGAAAACTAACATCCTTATTTTTCTGTTTTAGAGAAAGCACCTGATTATTGTGTGAACTATGGTTTGGAGGGCCACAAATCTAGAGGTAGTGGAA
CAGTTGAGATCTCTTATTTTTTCTTTCCTGTCTTAAACTTTGCCTTCTATTCCTTTTTTCTTTTTTTGACCGCAATGACTTCATTGTCATTTGTAAAAGTGATACATGACTGTTAAAGATAGACATTG
TAGAAACTTAAAAACAATCTCAAAATTCTACCACCCAGAAATCAGAAATATTTTGTATTTGGATATGTTTGTCTAGAAGAGTAGATTGCTTGATTAAAAGACAGAGTTTTATAAATGTAGAAGCCAAT
ATGACATACATGCTGCCATTAAATAATAAAAAATTAAATTGACTTTTATCTCAAGATAAGATTAAAATTGGAGGGTAAAACTGAAGAAATTGTTGAAATTTGGATGGTGCTTCTTTAAAGCAAGAGAT
TTAGAGAGTCAGAGCTTTTTATCCCAGGTTTCAATCTTTATTTCAGGAAAATTTTCTGCAATTTTGTCTAAGTTAATTTTTTTTTTTTAAGAAATGCCAATTATGTCAAATCCCTTTTGTCTCTATAC
AATAGTCCCCAACTGTTTTGGCAACAGGCACGGGTGAGGGTGGGGGAATGGTTTTCAGATGAAATTGTTCCATCTCAGATCATCAGGCATTAGTCGATTCTCATAAGGAGCGGACAACCTTGCATGCC
CTCCTATGAGAATCTAATGCCGCCGCTAATCTGACAGGAGGCAGAGCTCAGGCGATAATGCTCAATGGGTGCCACTCACCTCCTGTTGTGCTGCCCAATTCCTAACAGGTCATGGATAAGTACTGGTC
AGTGGCCCAGGGGTTGGGGACCACTGCTCTGTAACTATTTACAGTATTCTTTGTAACTACTTTGGTATCTTTAAAATTTTCTTTAACTTTTGTCAACCATAACCCTAGTGAGTTTTCAGTTGTGATTA
TTCTATTTTGTAACTTCCAATGTACTTTTCAACTTCATAATGGTTAATTTTGTTTTCCATTGCTTTCTTGGTCACTGTCATTTCATTTTTCTTCTCTTTCTCTATTTTTACCATTGCTTTATTGAAAT
ATCTTCTTTGAGCTTCTCATGTTTCTCTATTAATGAGATCATGTCTATAATATTTTTTGAGACTACAGAGACCTATTTATATAAACTCTTCCTCTATTTCTTGAAAAAGTTTTTATCTGGCGTGAGCT
TCATCTGCTTTTTCATTGAGGTTTTATCTCCCTTGCCTATTTTTGGGGCTGGTTTCTTTCTATTAATCACTGAGCAGAGCCAGCTATTTACTGAACTACAGTGTGGGAAGTGGTGGGAGGGTGAGTCA
GATCAGCCCACAGAAGCTATTTAAATTTCAGGTTTCAAGCCCACCTCCCCAAAACCGTTTTATGTGTTTTTTCTTCTGCCCAGGCACCATATTTTTATATCTATTTTTGACATTTGGGCGGCCTATGT
AGTTCACAGTGTAAAACTCTCTGTTTTACTTTCTTTATGTTATTGCTAGTGATTATTGCTTGTAGTCCCACCCCCTTCCCCACATTAGCCTTAGTATTCTATATTATTCAGCAAGCTTGTTCACAACT
CTCAAATATAGTCTATCAGAATTTTTATCTTTACCTCTACATTCCACTATTCGGAAGTATATAGTAAAATCGTATGAAGACAGATTTTGTCTTTTTCTTGCCTGTTTACACTCTATCTTACAGAGGTT
TCAAACAAACCATCTTTGTTTGAAACATCGCAGGATAATGATACTTATTGAAATCTACATCCTGCCCAAGATATATGCCAGTCAATTTCCTTTCTCCTATTAGTGCAAATGGCTACCTACTTAAAAGC
TGCTGACTATAGTTTGTCATCAATTACTTGTTAATTACAGATATGGTTTTCATTTTTTTTTCTCAATTTTTCATTATGTTATTTTTGGAGACTGTCTTAGGTGGGGAGTGAATTATAAATATTTTTAT
TTCACCACCTTTAACTGAGTCACCATATGTTATTTGCACTTCCAATAGACCAGGGATTGACCAGAGTATCTTTTACTGATATGACCACCAGAGCTACATGGCTTTTACCTTCTGTATATCAGATGTCA
CTGGAATCAAGCATTAAACCTAGATTAAATCTGGATTAAACCAGCTGTATGGCACCTTAGAAAATTGAGAAGGACTAGGAAGCTGATAGAAAGAACTCCTGTATAAAAAATAAATTCTTTTTACATTT
TCCTTGGTAGTATTTCTGCAAGCTTCTTTAGTTTCTATAGGGGAATCCCAGAGTTTTCCTCTGAGATTGCTTCCCTTTCCTTTGTATTTTCATTTTTCCCTCTTGGGCTTTACTTTTCAGTCGTGTAT
TTCTATCCCAATGTTAATTTATTACACTGTTTATATTTTCCTGTCCTTCAATTCATCAGTAGATTAGTGAAGTACTTATTCCTTTAATTATAAGTATAAACGTTTTTAATTTCTTTTTGGATAACGAT
ACATTTAATGGAAAATTTTTAAATGCTATGGTTTCTTAATAGCTTTTCTCTACCACTAATTACTTCCGTTAAAAAAAAAAAGAAATACCCATGCGTAATATAAAAGAAATTTTGAATAAAATGTTATC
CTTTCCTTTTACTAGAGACAAACATCTCCACTTCAAAATGGAAAAATGGAACTATGCAAAGGAAATTTACGATATTCAAGAGTATGATATTATCACTGAACCGATTAATTTAATTGAAAATACTAACC
TGCAAAAAAGAATTACACAAATGTATTTGAAATGTCATCAGATACCTCAAGCTATGACAGAGTTGATTATGTTACACAAGTAGTAAAGGATAAATTAAATATATTCTATATTAACACTAAGATTTAAA
ACTAATTATAGTCTTCTTTAATTTTTCTACTGTATACATTTCATCTAGTTTTCAGTAAAACAAACTTTTCATTACTTTTACTTATCCCATGCAAATCTAGTTGCTATAAGATATAACCTAATTTGGAA
ATACCTCCCTGTAATACATTGGAATTTTGGTGTGAGTGTGTGTGATCAGAGAGGATAAACAAATGGTGTCAGCAAAATAGAATGTAAAATATGGAGATAATGTGGATTTACACAATTTGATAAAAATT
CTCCCTTGAATTTTGCAGATCATATATGAATATCATCATGTGAAGTGCAATTAGGATTTTTTCATATATTAATACATATACATCATCTCTTTAATAAAATATTTTGCTGAACTCGTTTAATATTTCTC
ATGTCTCATATTTCATATTTTCTCATATGTCTCATATTTTATATTTTCTCATATGTGTCTCATTTTTATTATTACTATAGTATCCATTAAAGGAGACTGGCAAATACCTGAACAAAGTTATGTTGTTG
GCAATATAAGATATTACCAATTGCATAATATTATTTCCAAAGGCAAATTAATATGCAAACTATAGATTTCCATGGGTATCTATACAAATTATTACTTGAAGTCCATAGAAAACAGCTTCCTTAGAGGG
AAGTAAAAGAAGCTCTGATAACAGACAATGTATAGCATTTCAGTTAAAGTTTGATTGACATATTTTTTTCTCAGTCTTTTATACTTGTGAATTATAGTCTACATTTTGTCTTTACAGATGTTGCTAAC
ACAGTGCAGCATGTTGGCTTGTCATTTTACTGATTATGTATATTGTCTCCTAGTTCAAGTATACAGTAAATCAGAGCTTTCATTTTTCAAGGGGCAGAAAAATAATTGTTGGTTGATAAGGTAAGGTT
ATATGATTTTGAGGGAGCTTCATTGTAAATTGAATGAGAATCCGGTTTTCATGCAAAGGTGTATCTATGCGATAATACTTTGAATGTCTGTAGTTTGAAATAGAAGGTTAATTTTTTCCACTGGCTTA
TCCTTAATGAAGGAAATCCCCTGATAATTACTTTGATTCTGAAAATGTTGAAAACTCCAGAAGAAATAAAGCTTTTCTTTGATTTCTCAGCTGAAGTGTTGTACAAACTGAGGAATATGAAGTCCATT
CCCTTCTTTCTTCTCTTGAATAATTTTAAAATTGTTTGTTTAGTTGTACAATTGAAAATATTCCTTATTATAGAAGTAAAAAAACAATAATGCATATTTCCTCATATCATAAAAACTAAATTTGTTAT
CATCTGAGCTTCAATATTCTTGCTCAATTAGAATAGTAAATATAAAGTGTGATATTTATAACAGTTCAAGGTTTGATAGGAGATAGAGGTGTTTTGATTTTATGGGAAAATTACTTCCTCAAGAACAC
ATTTCTTGAGGTTTTAGTAATCACATTTGACTCCCTGAAATTGGCAATTTTATTCAATGTAGGAATATTATCATGGTATATTATAGTGAGGAGCACATAGTCATTATTATTTTGTTTTTGCAAATTTA
TTTTGAAAAAAAGGAGCATTATCAAATATTGGTTTACTATTTTAAAGTAATTCATCAGGAAATGATTTTTTAAACACTGTCCCTTTAAGTAAATGTCCCTTGCTTTTCAAAGCTCAACTTATTACTTA
TGGTAATAGAGTTACTTTGCTTCTTAAAACAAAGTTTATACTAGAGCATAGCATTGTAGAATTATTCAGGTCTCAATTTCTCACTGGAAAATGAGTCTTTAAAATAGTAAGGATTTAAATTTCTATAA
AATTTAATCACAGATACTTATATTTTAAGATAAATGTGTTGGAGCTAAACTCTGGAATTATTAAAATATAAAACATTATATCCCTCTAATGTATTTTTTCTATTTAAATTTAAAACAATAAACATAAA
TATCTTTGGAA

hide sequence

RefSeq Acc Id:

NM_001204266 ⟹ NP_001191195

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	46,918,900 - 46,993,581 (-)	NCBI
GRCh37	4	46,920,917 - 46,996,424 (-)	ENTREZGENE
HuRef	4	46,239,865 - 46,315,415 (-)	ENTREZGENE
CHM1_1	4	46,920,103 - 46,994,729 (-)	NCBI
T2T-CHM13v2.0	4	46,886,225 - 46,960,936 (-)	NCBI

Sequence:

show sequence

ACACGCCCACCGCGGCTCGGGCTGGCTGAGCGCGGGCGAGTGTGAGCGCGAGTGTGCGCACGCC
GCGGGAGCCTCTCTGCCCTCTCCTCGCACCCTGCTCAGGGCATCTGAAGAGCCTGGAAACGTGAACAGGCTTGAAGTATGGCATGTTGCAAAGATGGTTTCTGCCAAGAAGTTTAAACGAATCCCCAG
GACAGAACCAAAAGGAGGAGAAATTGTGCACAGAAAATTTCACCCGCATCCTGGACAGTTTGCTCGATGGTTATGACAACAGGCTGCGTCCTGGATTTGGGGGTCCTGTTACAGAAGTGAAAACTGAC
ATATATGTCACCAGCTTTGGACCTGTTTCTGATGTTGAAATGGAATACACAATGGATGTGTTCTTCAGGCAGACATGGATTGACAAAAGATTAAAATATGACGGCCCCATTGAAATTTTGAGATTGAA
CAATATGATGGTAACGAAAGTGTGGACCCCTGATACTTTCTTCAGGAATGGAAAGAAATCTGTCTCACATAATATGACAGCTCCAAATAAGCTTTTTAGAATTATGAGAAATGGTACTATTTTATACA
CAATGAGACTCACCATAAGTGCGGAGTGTCCCATGAGATTGGTGGATTTTCCCATGGATGGTCATGCATGCCCTTTGAAATTCGGGAGTTATGCCTATCCAAAGAGTGAGATGATCTATACCTGGACA
AAAGGTCCTGAGAAATCAGTTGAAGTTCCGAAGGAGTCTTCCAGCTTAGTTCAATATGATTTGATTGGGCAAACCGTATCAAGTGAAACCATCAAATCAATTACGGGTGAATATATTGTTATGACGGT
TTACTTCCACCTCAGACGGAAGATGGGTTATTTTATGATTCAGACCTATATTCCGTGCATTATGACAGTGATTCTTTCTCAAGTTTCATTTTGGATAAATAAAGAATCAGTTCCCGCTAGGACTGTAT
TTGGAATAACAACTGTCCTCACCATGACCACACTAAGCATCAGTGCACGACATTCTTTGCCCAAAGTGTCCTATGCTACCGCCATGGACTGGTTCATAGCTGTCTGCTTTGCTTTTGTATTTTCGGCC
CTTATCGAGTTTGCTGCTGTCAACTATTTCACCAATATTCAAATGGAAAAAGCCAAAAGGAAGACATCAAAGCCCCCTCAGGAAGTTCCCGCTGCTCCAGTGCAGAGAGAGAAGCATCCTGAAGCCCC
TCTGCAGAATACAAATGCCAATTTGAACATGAGAAAAAGAACAAATGCTTTGGTTCACTCTGAATCTGATGTTGGCAACAGAACTGAGGTGGGAAACCATTCAAGCAAATCTTCCACAGTTGTTCAAG
AATCTTCTAAAGGCACACCTCGGTCTTACTTAGCTTCCAGTCCAAACCCATTCAGCCGTGCAAATGCAGCTGAAACCATATCTGCAGCAAGAGCACTTCCATCTGCTTCTCCTACTTCTATCCGAACT
GGATATATGCCTCGAAAGGCTTCAGTTGGATCTGCTTCTACTCGTCACGTGTTTGGATCAAGACTGCAGAGGATAAAGACCACAGTTAATACCATAGGGGCTACTGGGAAGTTGTCAGCTACTCCTCC
TCCATCGGCTCCACCACCTTCTGGATCTGGCACAAGTAAAATAGACAAATATGCCCGTATTCTCTTTCCAGTCACATTTGGGGCATTTAACATGGTTTATTGGGTTGTTTATTTATCTAAGGACACTA
TGGAGAAATCAGAAAGTCTAATGTAATTTCGTTGCTATAGTAGTTTGCTAAAAGATGATGAAAATGCAGAATGTCTTTTTAAATGTTTTTAAATATAAACAAATATTCTTTACTAAAATAAAAACTCT
GTGTAATTTTTCCATTTAAAGATATAAGCCAGTTATTGGGAGAGTTAATTAATTCCTGAGTGAAAAAGTGAACTATGTTTTTTTTCAGAAAAATTATTTTAAAAGAACTCAGCATTCAGTTAGATAGA
ATACACACCATCCTGGAAAGTTGGGATAAGAGAAATAGAGCTATTAGAGACAAGTGGCGCATATTTTTTCATTGATATTTGAAAACAGACTATGACATTTTAAAAATCTGCCCTATGAGTATCAACCT
GCCACCCTAAATTTCCCAGTGGCACTACCCTTAACCAGAATTGTTTATTAGATGTCATATGCAGTGACCTTTGGTGATCTTCTTAGGAACTTCAAGAAAAGGAATTTTCCTGTTAAATTAAACATTGG
CAAAAGGAAATGGAATAGTATAAACACTGATCAATAGAGTAAAATATCTGCTGCATAAAAAACTAAGACAAAGACCAGAGGAAATATCTTCCCTTTCTTATGTTGGCTAAACAGTACTTAACAGTTGA
CTTGAAATTTTGTTCTCTGAGCCAAAGTTTAACTCATTGTATGAATTCTTTTTCATGGTAGTTCATTCAGTTATGTGTTTATTTACTACATAGTTATTCAGAGCCTACTGTGTTCCAGGAACTATGCT
AGAAACTGTCTCTCTAGGAAAGCTCTTGCACCTTTATCTACAATATTACTTAAAAAGTAGAACAGTCAATGCATGCCAAAGAACCATAAACTAGCAGAGGACATTGCATTCTTTAGTGAAGGACATTT
ATTTAGAGTCTGACAACATATTCAAAATATTTTTCAGCCTCTACTGATAGTGGATAACAAATATATTTGTTCACATAACCACTTTGATGTCAGTACAACTTCAGCAATTGGTTTTCAAAATAGATGAG
AATATGGTACAGATTGTTCTATAAGTGAAAAGCATTATGTACTTGAAAGTAAAAATCAGGGCAATATAAGACTTAATAGATTAACTGTCGCAAATTTGATCAGAGTCACAGAGTAGAATTTGATCAGA
ATCACAGAATCATCAGACATAGGAACTGAGCACAGGCTTTTTCAGGTGCTTTCCCCAAGATAGATCTAGATATTAGCTAGTGAAATGCTAAATTTTGAAGAGTTTTGTGTCCGTAGTTCTGTAATTCT
GGGCAGTCATCATGTTGGTTTTTTTGGGAGTTTTTTTAAGGTTTAATAACTAAGGGGAATATTTTAAAATTAAGAGAGCAGCAAATGAAAGGAGTAAAGAAAAAAATAGCTGTCGGGTAGGATGCCAC
TGACTCTGCTATGTGATTTATCAGGGTTTTCATCTACTGACTTCTTTCTCATTAGGTAGGCTTAACAACTTACTTGAGAATTTTGCAACTGTCTATGCAGCTGAATCTAAGTATGGTTTTTTGTCATA
TTGCCTCTAGATTTTCTTCTGTGCTTCTCTCTATCTGCTCTGGAATGGATGAGTGAATGTGTTCTGGGTGTTTTAGGGAACATATTGATAGAAATGACCACCTTGCAGACAAAATCTCTCTCTCTCTT
TTTGTTTTTATAGAAAAGAAGTGATAGTAGTTAATTGGCATCGATTTTTCAGATATTGCACTACCTTATAATGGTTGTTTTTGATACCTGAAAATTGTGCAAATGCCAAATATTAATTGTAAGTCATA
TCTGAGAAATCATTCTTGGCTGTCTTTCTAGGTATTCCATAGAATCAACACATTTTAAGGCTGAAAGATACTGTCGAAATCACCCAGTCCCAACCCCCCAATTTAAAATTGATTCTAGTAAAATTAGG
TCCAGTAACACCTGTATATATGTATATATTTAATAAAGAGTACTTGTACAAAAAAGCTTATCATAAATTATTTCATGAATGTGAATAGATTTCTGGCCTTGAGGACGATGTTTGGAAATATGGTTGGA
AGCACAATTCATTCGCTACTAGTTATTCAGAGCGTACTTTGTTCCAGGAACTATGCTGGAAACTGATAGTTCACTATTCTGATGAAAAGGCTGGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTT
TTTGGTGAGGAACTCTTACTCTTTGCTAATCTATTGGCCTATCTTAAGAAATAATTATTTGGTTATTCATTGGCTTCCTTTAAAAAAAAGTGTTCTTCTACAAATCTTACAGAGTGTAAAGAGATAAA
AAGAAATGATTTTTTTTCTTACCTTTACATATGAAGGTTTAAAAATACATCATGTGGCCAAAGAATGAGAAAGGACAGAATTAACCAAGGATTCTTAATTGTTAATTTGAAGAACACATTAACCAGAA
AGCTTAAACATTATTATTAAAATAAATTATTTCATTTGCACACAATGATAATAATGATGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATATGTTGTTTGCTTTCCTTAACTGAA
TTTCATCAAATTCATTCAGTGATTTTTATTTTGGTCATTATTTCTATCTTCCCAATAACCCAGAGGTACATCAAGTAAAAACACTTTTGCAAAGAGCCAGTCACTTTTCCCTCTTAGAAAATCTCAGA
AGAATGATTAGGGGCACCCAAAGTTCTGGTTATCTATGAATAATAATGAATAATTTTGGCTGAGAATGGTACCTTTATATAACTCTTTTAAAGATGAAATTCAGAATAATTTTATTCAGGACCTAGTA
TCTGCAGTCCATGTTGGCCACTAACTGCTACATAATTACTTTCAATTTCCTCCAGGCATGACTAGGTATAAACATATATTTACATGATTAATCCACATTTTAAAATGACTTGCACTTGTGCATATACA
TAGTACTTTGAATAATGTATATTTTAAATTGGACCTCACAAATCTTGTATTAAAGTAGGTAGAGAGTAGAGTCACACTTTTTTTGATGAAATGAGTCACAGAGAAGTTACATGACAAAGATAAAATCA
CAGGGTTGGAAAGAACTTTGAAAGGTCATTTTTCAATAATCTCACCTTAAAAGTGACCCCTTTTCAAACAAAGCATAAACAATTTATTTGTGGCTTATTTTACCCATGAGCTGGCCAATACTTCCTGG
CCTAGAAAAATATCTCCACTCTCCCCATTCCTGTTCTTAATGGTCTTCTCTTCTCAATTTGTAAATATTCTCCAGTAAAAGACACCAGGTGTGGAGATGGGTCACTTAATTTCAAGTTCTGAGTGTCT
TGTGGTTTTAAACAAGTCTCTTAACCTCTCTAAGACTGATTCCTCATTTATAACAGGGAGGAGGTGGATTATGTAATATCTAAGAGCTTTTCAGTTTTAATACTCTCTGATTCTCATAGTAAATACAA
GCATACTCTTGTAAGAAAAACACTGAATACTTTGAACCACAAATAAGTGTTTATGGACAAAAATTTAGTTCTACTGCTTGATTACTTTAAGTTCATTGCTTGCTTCAAACTAAGGTTTCCCTACCTTC
AAAAATATATATAACATCTCTCCATTTAGATAAAGTATATTCTTCCCCAGGGAAGACTGTATTCTTTAAAGACAGTAGAATATTGGCTATTTCTCTTTTCTGGGATTTCCTGGGCTTTTATTCACTAA
ATGGGCTCCTGCCCAGTTTGGGTACTGTGCTGATTTTTAGATATACAGAGATAAAAATAGCCCCTTTCCTTGCAGGTAGTCACAGTCCGGAAGAGATGATAGATGCATAGACAAAAAATTATGGGATG
TAACTAATGCTTCAGTAGAATACAGCAGGGCCAAAACTAGAGTGATACTCATCTCAGGCACAAATATATATGGGGACATCAAAACTTCAATAATCAAGATACCTAATATTTAAGTGAATATTTTTAAA
ACTCAAAATTAATGCAAAAGATTTATGATGAACAGAATATACAAATTTTAAATAAATTAATAGAATCAGTAGTAATAATATTTTCTTCTGCCTCAGGCTCCAAAATTGCTCAGCATAGCACTGATCTA
GATAGAGGTGGATAAAAGATCCACATAACTTAATTACATTGTTGAAGGAGAGGAACAAGAGTGATAGCAGAGAAGGTTTCACAGATATAATCTTAAGCTAAATTTTATAGAATGATTTGGAGTTCTTA
TAGCCTCCATTCCCACTTCCACAAACAAACAAAAAAATGAAAGCGCAATTTTATCAGCACCTGAGGCAGGAGAAGAGATGAGGATGTGGAAAGTCAAGGGGAACTCTTACTACAAATTCTTAGTTCTG
TGTTTGGAGGTAAGGGTGAATGCAGGGAAGTGAGAGTTGTTGATGTTGGAAAGACCTAAAGAGCCTGGATTAGGAAGAGTTTTGTGTAAATTACTGAAGGAATGGAATTTGATCAGGATTAGTGGCAA
TTTATTAAAAATCTTGAAGAATAATACGATGAAAACTAACATCCTTATTTTTCTGTTTTAGAGAAAGCACCTGATTATTGTGTGAACTATGGTTTGGAGGGCCACAAATCTAGAGGTAGTGGAACAGT
TGAGATCTCTTATTTTTTCTTTCCTGTCTTAAACTTTGCCTTCTATTCCTTTTTTCTTTTTTTGACCGCAATGACTTCATTGTCATTTGTAAAAGTGATACATGACTGTTAAAGATAGACATTGTAGA
AACTTAAAAACAATCTCAAAATTCTACCACCCAGAAATCAGAAATATTTTGTATTTGGATATGTTTGTCTAGAAGAGTAGATTGCTTGATTAAAAGACAGAGTTTTATAAATGTAGAAGCCAATATGA
CATACATGCTGCCATTAAATAATAAAAAATTAAATTGACTTTTATCTCAAGATAAGATTAAAATTGGAGGGTAAAACTGAAGAAATTGTTGAAATTTGGATGGTGCTTCTTTAAAGCAAGAGATTTAG
AGAGTCAGAGCTTTTTATCCCAGGTTTCAATCTTTATTTCAGGAAAATTTTCTGCAATTTTGTCTAAGTTAATTTTTTTTTTTTAAGAAATGCCAATTATGTCAAATCCCTTTTGTCTCTATACAATA
GTCCCCAACTGTTTTGGCAACAGGCACGGGTGAGGGTGGGGGAATGGTTTTCAGATGAAATTGTTCCATCTCAGATCATCAGGCATTAGTCGATTCTCATAAGGAGCGGACAACCTTGCATGCCCTCC
TATGAGAATCTAATGCCGCCGCTAATCTGACAGGAGGCAGAGCTCAGGCGATAATGCTCAATGGGTGCCACTCACCTCCTGTTGTGCTGCCCAATTCCTAACAGGTCATGGATAAGTACTGGTCAGTG
GCCCAGGGGTTGGGGACCACTGCTCTGTAACTATTTACAGTATTCTTTGTAACTACTTTGGTATCTTTAAAATTTTCTTTAACTTTTGTCAACCATAACCCTAGTGAGTTTTCAGTTGTGATTATTCT
ATTTTGTAACTTCCAATGTACTTTTCAACTTCATAATGGTTAATTTTGTTTTCCATTGCTTTCTTGGTCACTGTCATTTCATTTTTCTTCTCTTTCTCTATTTTTACCATTGCTTTATTGAAATATCT
TCTTTGAGCTTCTCATGTTTCTCTATTAATGAGATCATGTCTATAATATTTTTTGAGACTACAGAGACCTATTTATATAAACTCTTCCTCTATTTCTTGAAAAAGTTTTTATCTGGCGTGAGCTTCAT
CTGCTTTTTCATTGAGGTTTTATCTCCCTTGCCTATTTTTGGGGCTGGTTTCTTTCTATTAATCACTGAGCAGAGCCAGCTATTTACTGAACTACAGTGTGGGAAGTGGTGGGAGGGTGAGTCAGATC
AGCCCACAGAAGCTATTTAAATTTCAGGTTTCAAGCCCACCTCCCCAAAACCGTTTTATGTGTTTTTTCTTCTGCCCAGGCACCATATTTTTATATCTATTTTTGACATTTGGGCGGCCTATGTAGTT
CACAGTGTAAAACTCTCTGTTTTACTTTCTTTATGTTATTGCTAGTGATTATTGCTTGTAGTCCCACCCCCTTCCCCACATTAGCCTTAGTATTCTATATTATTCAGCAAGCTTGTTCACAACTCTCA
AATATAGTCTATCAGAATTTTTATCTTTACCTCTACATTCCACTATTCGGAAGTATATAGTAAAATCGTATGAAGACAGATTTTGTCTTTTTCTTGCCTGTTTACACTCTATCTTACAGAGGTTTCAA
ACAAACCATCTTTGTTTGAAACATCGCAGGATAATGATACTTATTGAAATCTACATCCTGCCCAAGATATATGCCAGTCAATTTCCTTTCTCCTATTAGTGCAAATGGCTACCTACTTAAAAGCTGCT
GACTATAGTTTGTCATCAATTACTTGTTAATTACAGATATGGTTTTCATTTTTTTTTCTCAATTTTTCATTATGTTATTTTTGGAGACTGTCTTAGGTGGGGAGTGAATTATAAATATTTTTATTTCA
CCACCTTTAACTGAGTCACCATATGTTATTTGCACTTCCAATAGACCAGGGATTGACCAGAGTATCTTTTACTGATATGACCACCAGAGCTACATGGCTTTTACCTTCTGTATATCAGATGTCACTGG
AATCAAGCATTAAACCTAGATTAAATCTGGATTAAACCAGCTGTATGGCACCTTAGAAAATTGAGAAGGACTAGGAAGCTGATAGAAAGAACTCCTGTATAAAAAATAAATTCTTTTTACATTTTCCT
TGGTAGTATTTCTGCAAGCTTCTTTAGTTTCTATAGGGGAATCCCAGAGTTTTCCTCTGAGATTGCTTCCCTTTCCTTTGTATTTTCATTTTTCCCTCTTGGGCTTTACTTTTCAGTCGTGTATTTCT
ATCCCAATGTTAATTTATTACACTGTTTATATTTTCCTGTCCTTCAATTCATCAGTAGATTAGTGAAGTACTTATTCCTTTAATTATAAGTATAAACGTTTTTAATTTCTTTTTGGATAACGATACAT
TTAATGGAAAATTTTTAAATGCTATGGTTTCTTAATAGCTTTTCTCTACCACTAATTACTTCCGTTAAAAAAAAAAAGAAATACCCATGCGTAATATAAAAGAAATTTTGAATAAAATGTTATCCTTT
CCTTTTACTAGAGACAAACATCTCCACTTCAAAATGGAAAAATGGAACTATGCAAAGGAAATTTACGATATTCAAGAGTATGATATTATCACTGAACCGATTAATTTAATTGAAAATACTAACCTGCA
AAAAAGAATTACACAAATGTATTTGAAATGTCATCAGATACCTCAAGCTATGACAGAGTTGATTATGTTACACAAGTAGTAAAGGATAAATTAAATATATTCTATATTAACACTAAGATTTAAAACTA
ATTATAGTCTTCTTTAATTTTTCTACTGTATACATTTCATCTAGTTTTCAGTAAAACAAACTTTTCATTACTTTTACTTATCCCATGCAAATCTAGTTGCTATAAGATATAACCTAATTTGGAAATAC
CTCCCTGTAATACATTGGAATTTTGGTGTGAGTGTGTGTGATCAGAGAGGATAAACAAATGGTGTCAGCAAAATAGAATGTAAAATATGGAGATAATGTGGATTTACACAATTTGATAAAAATTCTCC
CTTGAATTTTGCAGATCATATATGAATATCATCATGTGAAGTGCAATTAGGATTTTTTCATATATTAATACATATACATCATCTCTTTAATAAAATATTTTGCTGAACTCGTTTAATATTTCTCATGT
CTCATATTTCATATTTTCTCATATGTCTCATATTTTATATTTTCTCATATGTGTCTCATTTTTATTATTACTATAGTATCCATTAAAGGAGACTGGCAAATACCTGAACAAAGTTATGTTGTTGGCAA
TATAAGATATTACCAATTGCATAATATTATTTCCAAAGGCAAATTAATATGCAAACTATAGATTTCCATGGGTATCTATACAAATTATTACTTGAAGTCCATAGAAAACAGCTTCCTTAGAGGGAAGT
AAAAGAAGCTCTGATAACAGACAATGTATAGCATTTCAGTTAAAGTTTGATTGACATATTTTTTTCTCAGTCTTTTATACTTGTGAATTATAGTCTACATTTTGTCTTTACAGATGTTGCTAACACAG
TGCAGCATGTTGGCTTGTCATTTTACTGATTATGTATATTGTCTCCTAGTTCAAGTATACAGTAAATCAGAGCTTTCATTTTTCAAGGGGCAGAAAAATAATTGTTGGTTGATAAGGTAAGGTTATAT
GATTTTGAGGGAGCTTCATTGTAAATTGAATGAGAATCCGGTTTTCATGCAAAGGTGTATCTATGCGATAATACTTTGAATGTCTGTAGTTTGAAATAGAAGGTTAATTTTTTCCACTGGCTTATCCT
TAATGAAGGAAATCCCCTGATAATTACTTTGATTCTGAAAATGTTGAAAACTCCAGAAGAAATAAAGCTTTTCTTTGATTTCTCAGCTGAAGTGTTGTACAAACTGAGGAATATGAAGTCCATTCCCT
TCTTTCTTCTCTTGAATAATTTTAAAATTGTTTGTTTAGTTGTACAATTGAAAATATTCCTTATTATAGAAGTAAAAAAACAATAATGCATATTTCCTCATATCATAAAAACTAAATTTGTTATCATC
TGAGCTTCAATATTCTTGCTCAATTAGAATAGTAAATATAAAGTGTGATATTTATAACAGTTCAAGGTTTGATAGGAGATAGAGGTGTTTTGATTTTATGGGAAAATTACTTCCTCAAGAACACATTT
CTTGAGGTTTTAGTAATCACATTTGACTCCCTGAAATTGGCAATTTTATTCAATGTAGGAATATTATCATGGTATATTATAGTGAGGAGCACATAGTCATTATTATTTTGTTTTTGCAAATTTATTTT
GAAAAAAAGGAGCATTATCAAATATTGGTTTACTATTTTAAAGTAATTCATCAGGAAATGATTTTTTAAACACTGTCCCTTTAAGTAAATGTCCCTTGCTTTTCAAAGCTCAACTTATTACTTATGGT
AATAGAGTTACTTTGCTTCTTAAAACAAAGTTTATACTAGAGCATAGCATTGTAGAATTATTCAGGTCTCAATTTCTCACTGGAAAATGAGTCTTTAAAATAGTAAGGATTTAAATTTCTATAAAATT
TAATCACAGATACTTATATTTTAAGATAAATGTGTTGGAGCTAAACTCTGGAATTATTAAAATATAAAACATTATATCCCTCTAATGTATTTTTTCTATTTAAATTTAAAACAATAAACATAAATATC
TTTGGAA

hide sequence

RefSeq Acc Id:

NM_001204267 ⟹ NP_001191196

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	46,918,900 - 46,993,581 (-)	NCBI
GRCh37	4	46,920,917 - 46,996,424 (-)	ENTREZGENE
HuRef	4	46,239,865 - 46,315,415 (-)	ENTREZGENE
CHM1_1	4	46,920,103 - 46,994,729 (-)	NCBI
T2T-CHM13v2.0	4	46,886,225 - 46,960,936 (-)	NCBI

Sequence:

show sequence

ACACGCCCACCGCGGCTCGGGCTGGCTGAGCGCGGGCGAGTGTGAGCGCGAGTGTGCGCACGCC
GCGGGAGCCTCTCTGCCCTCTCCTCGCACCCTGCTCAGGGCATCTGAAGAGCCTGGAAACGTGAACAGGCTTGAAGTATGGCATGTTGCAAAGATGGTTTCTGCCAAGAAGTTTAAACGAATCCCCAG
GACAGAACCAAAAGGAGGAGAAATTGTGCACAGAAAATTTCACCCGCATCCTGGACAGTTTGCTCGATGGTTATGACAACAGGCTGCGTCCTGGATTTGGGGGTCCTGTTACAGAAGTGAAAACTGAC
ATATATGTCACCAGCTTTGGACCTGTTTCTGATGTTGAAATGGAATACACAATGGATGTGTTCTTCAGGCAGACATGGATTGACAAAAGATTAAAATATGACGGCCCCATTGAAATTTTGAGATTGAA
CAATATGATGGTAACGAAAGTGTGGACCCCTGATACTTTCTTCAGGAATGGAAAGAAATCTGTCTCACATAATATGACAGCTCCAAATAAGCTTTTTAGAATTATGAGAAATGGTACTATTTTATACA
CAATGAGACTCACCATAAGTGCGGAGTGTCCCATGAGATTGGTGGATTTTCCCATGGATGGTCATGCATGCCCTTTGAAATTCGGGAGTTATGCCTATCCAAAGAGTGAGATGATCTATACCTGGACA
AAAGGTCCTGAGAAATCAGTTGAAGTTCCGAAGGAGTCTTCCAGCTTAGTTCAATATGATTTGATTGGGCAAACCGTATCAAGTGAAACCATCAAATCAATTACGGGAATAACAACTGTCCTCACCAT
GACCACACTAAGCATCAGTGCACGACATTCTTTGCCCAAAGTGTCCTATGCTACCGCCATGGACTGGTTCATAGCTGTCTGCTTTGCTTTTGTATTTTCGGCCCTTATCGAGTTTGCTGCTGTCAACT
ATTTCACCAATATTCAAATGGAAAAAGCCAAAAGGAAGACATCAAAGCCCCCTCAGGAAGTTCCCGCTGCTCCAGTGCAGAGAGAGAAGCATCCTGAAGCCCCTCTGCAGAATACAAATGCCAATTTG
AACATGAGAAAAAGAACAAATGCTTTGGTTCACTCTGAATCTGATGTTGGCAACAGAACTGAGGTGGGAAACCATTCAAGCAAATCTTCCACAGTTGTTCAAGAATCTTCTAAAGGCACACCTCGGTC
TTACTTAGCTTCCAGTCCAAACCCATTCAGCCGTGCAAATGCAGCTGAAACCATATCTGCAGCAAGAGCACTTCCATCTGCTTCTCCTACTTCTATCCGAACTGGATATATGCCTCGAAAGGCTTCAG
TTGGATCTGCTTCTACTCGTCACGTGTTTGGATCAAGACTGCAGAGGATAAAGACCACAGTTAATACCATAGGGGCTACTGGGAAGTTGTCAGCTACTCCTCCTCCATCGGCTCCACCACCTTCTGGA
TCTGGCACAAGTAAAATAGACAAATATGCCCGTATTCTCTTTCCAGTCACATTTGGGGCATTTAACATGGTTTATTGGGTTGTTTATTTATCTAAGGACACTATGGAGAAATCAGAAAGTCTAATGTA
ATTTCGTTGCTATAGTAGTTTGCTAAAAGATGATGAAAATGCAGAATGTCTTTTTAAATGTTTTTAAATATAAACAAATATTCTTTACTAAAATAAAAACTCTGTGTAATTTTTCCATTTAAAGATAT
AAGCCAGTTATTGGGAGAGTTAATTAATTCCTGAGTGAAAAAGTGAACTATGTTTTTTTTCAGAAAAATTATTTTAAAAGAACTCAGCATTCAGTTAGATAGAATACACACCATCCTGGAAAGTTGGG
ATAAGAGAAATAGAGCTATTAGAGACAAGTGGCGCATATTTTTTCATTGATATTTGAAAACAGACTATGACATTTTAAAAATCTGCCCTATGAGTATCAACCTGCCACCCTAAATTTCCCAGTGGCAC
TACCCTTAACCAGAATTGTTTATTAGATGTCATATGCAGTGACCTTTGGTGATCTTCTTAGGAACTTCAAGAAAAGGAATTTTCCTGTTAAATTAAACATTGGCAAAAGGAAATGGAATAGTATAAAC
ACTGATCAATAGAGTAAAATATCTGCTGCATAAAAAACTAAGACAAAGACCAGAGGAAATATCTTCCCTTTCTTATGTTGGCTAAACAGTACTTAACAGTTGACTTGAAATTTTGTTCTCTGAGCCAA
AGTTTAACTCATTGTATGAATTCTTTTTCATGGTAGTTCATTCAGTTATGTGTTTATTTACTACATAGTTATTCAGAGCCTACTGTGTTCCAGGAACTATGCTAGAAACTGTCTCTCTAGGAAAGCTC
TTGCACCTTTATCTACAATATTACTTAAAAAGTAGAACAGTCAATGCATGCCAAAGAACCATAAACTAGCAGAGGACATTGCATTCTTTAGTGAAGGACATTTATTTAGAGTCTGACAACATATTCAA
AATATTTTTCAGCCTCTACTGATAGTGGATAACAAATATATTTGTTCACATAACCACTTTGATGTCAGTACAACTTCAGCAATTGGTTTTCAAAATAGATGAGAATATGGTACAGATTGTTCTATAAG
TGAAAAGCATTATGTACTTGAAAGTAAAAATCAGGGCAATATAAGACTTAATAGATTAACTGTCGCAAATTTGATCAGAGTCACAGAGTAGAATTTGATCAGAATCACAGAATCATCAGACATAGGAA
CTGAGCACAGGCTTTTTCAGGTGCTTTCCCCAAGATAGATCTAGATATTAGCTAGTGAAATGCTAAATTTTGAAGAGTTTTGTGTCCGTAGTTCTGTAATTCTGGGCAGTCATCATGTTGGTTTTTTT
GGGAGTTTTTTTAAGGTTTAATAACTAAGGGGAATATTTTAAAATTAAGAGAGCAGCAAATGAAAGGAGTAAAGAAAAAAATAGCTGTCGGGTAGGATGCCACTGACTCTGCTATGTGATTTATCAGG
GTTTTCATCTACTGACTTCTTTCTCATTAGGTAGGCTTAACAACTTACTTGAGAATTTTGCAACTGTCTATGCAGCTGAATCTAAGTATGGTTTTTTGTCATATTGCCTCTAGATTTTCTTCTGTGCT
TCTCTCTATCTGCTCTGGAATGGATGAGTGAATGTGTTCTGGGTGTTTTAGGGAACATATTGATAGAAATGACCACCTTGCAGACAAAATCTCTCTCTCTCTTTTTGTTTTTATAGAAAAGAAGTGAT
AGTAGTTAATTGGCATCGATTTTTCAGATATTGCACTACCTTATAATGGTTGTTTTTGATACCTGAAAATTGTGCAAATGCCAAATATTAATTGTAAGTCATATCTGAGAAATCATTCTTGGCTGTCT
TTCTAGGTATTCCATAGAATCAACACATTTTAAGGCTGAAAGATACTGTCGAAATCACCCAGTCCCAACCCCCCAATTTAAAATTGATTCTAGTAAAATTAGGTCCAGTAACACCTGTATATATGTAT
ATATTTAATAAAGAGTACTTGTACAAAAAAGCTTATCATAAATTATTTCATGAATGTGAATAGATTTCTGGCCTTGAGGACGATGTTTGGAAATATGGTTGGAAGCACAATTCATTCGCTACTAGTTA
TTCAGAGCGTACTTTGTTCCAGGAACTATGCTGGAAACTGATAGTTCACTATTCTGATGAAAAGGCTGGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTGGTGAGGAACTCTTACTCTTTG
CTAATCTATTGGCCTATCTTAAGAAATAATTATTTGGTTATTCATTGGCTTCCTTTAAAAAAAAGTGTTCTTCTACAAATCTTACAGAGTGTAAAGAGATAAAAAGAAATGATTTTTTTTCTTACCTT
TACATATGAAGGTTTAAAAATACATCATGTGGCCAAAGAATGAGAAAGGACAGAATTAACCAAGGATTCTTAATTGTTAATTTGAAGAACACATTAACCAGAAAGCTTAAACATTATTATTAAAATAA
ATTATTTCATTTGCACACAATGATAATAATGATGATAATAATAATAATAATAATAATAATAATAATAATAATAATAATATGTTGTTTGCTTTCCTTAACTGAATTTCATCAAATTCATTCAGTGATTT
TTATTTTGGTCATTATTTCTATCTTCCCAATAACCCAGAGGTACATCAAGTAAAAACACTTTTGCAAAGAGCCAGTCACTTTTCCCTCTTAGAAAATCTCAGAAGAATGATTAGGGGCACCCAAAGTT
CTGGTTATCTATGAATAATAATGAATAATTTTGGCTGAGAATGGTACCTTTATATAACTCTTTTAAAGATGAAATTCAGAATAATTTTATTCAGGACCTAGTATCTGCAGTCCATGTTGGCCACTAAC
TGCTACATAATTACTTTCAATTTCCTCCAGGCATGACTAGGTATAAACATATATTTACATGATTAATCCACATTTTAAAATGACTTGCACTTGTGCATATACATAGTACTTTGAATAATGTATATTTT
AAATTGGACCTCACAAATCTTGTATTAAAGTAGGTAGAGAGTAGAGTCACACTTTTTTTGATGAAATGAGTCACAGAGAAGTTACATGACAAAGATAAAATCACAGGGTTGGAAAGAACTTTGAAAGG
TCATTTTTCAATAATCTCACCTTAAAAGTGACCCCTTTTCAAACAAAGCATAAACAATTTATTTGTGGCTTATTTTACCCATGAGCTGGCCAATACTTCCTGGCCTAGAAAAATATCTCCACTCTCCC
CATTCCTGTTCTTAATGGTCTTCTCTTCTCAATTTGTAAATATTCTCCAGTAAAAGACACCAGGTGTGGAGATGGGTCACTTAATTTCAAGTTCTGAGTGTCTTGTGGTTTTAAACAAGTCTCTTAAC
CTCTCTAAGACTGATTCCTCATTTATAACAGGGAGGAGGTGGATTATGTAATATCTAAGAGCTTTTCAGTTTTAATACTCTCTGATTCTCATAGTAAATACAAGCATACTCTTGTAAGAAAAACACTG
AATACTTTGAACCACAAATAAGTGTTTATGGACAAAAATTTAGTTCTACTGCTTGATTACTTTAAGTTCATTGCTTGCTTCAAACTAAGGTTTCCCTACCTTCAAAAATATATATAACATCTCTCCAT
TTAGATAAAGTATATTCTTCCCCAGGGAAGACTGTATTCTTTAAAGACAGTAGAATATTGGCTATTTCTCTTTTCTGGGATTTCCTGGGCTTTTATTCACTAAATGGGCTCCTGCCCAGTTTGGGTAC
TGTGCTGATTTTTAGATATACAGAGATAAAAATAGCCCCTTTCCTTGCAGGTAGTCACAGTCCGGAAGAGATGATAGATGCATAGACAAAAAATTATGGGATGTAACTAATGCTTCAGTAGAATACAG
CAGGGCCAAAACTAGAGTGATACTCATCTCAGGCACAAATATATATGGGGACATCAAAACTTCAATAATCAAGATACCTAATATTTAAGTGAATATTTTTAAAACTCAAAATTAATGCAAAAGATTTA
TGATGAACAGAATATACAAATTTTAAATAAATTAATAGAATCAGTAGTAATAATATTTTCTTCTGCCTCAGGCTCCAAAATTGCTCAGCATAGCACTGATCTAGATAGAGGTGGATAAAAGATCCACA
TAACTTAATTACATTGTTGAAGGAGAGGAACAAGAGTGATAGCAGAGAAGGTTTCACAGATATAATCTTAAGCTAAATTTTATAGAATGATTTGGAGTTCTTATAGCCTCCATTCCCACTTCCACAAA
CAAACAAAAAAATGAAAGCGCAATTTTATCAGCACCTGAGGCAGGAGAAGAGATGAGGATGTGGAAAGTCAAGGGGAACTCTTACTACAAATTCTTAGTTCTGTGTTTGGAGGTAAGGGTGAATGCAG
GGAAGTGAGAGTTGTTGATGTTGGAAAGACCTAAAGAGCCTGGATTAGGAAGAGTTTTGTGTAAATTACTGAAGGAATGGAATTTGATCAGGATTAGTGGCAATTTATTAAAAATCTTGAAGAATAAT
ACGATGAAAACTAACATCCTTATTTTTCTGTTTTAGAGAAAGCACCTGATTATTGTGTGAACTATGGTTTGGAGGGCCACAAATCTAGAGGTAGTGGAACAGTTGAGATCTCTTATTTTTTCTTTCCT
GTCTTAAACTTTGCCTTCTATTCCTTTTTTCTTTTTTTGACCGCAATGACTTCATTGTCATTTGTAAAAGTGATACATGACTGTTAAAGATAGACATTGTAGAAACTTAAAAACAATCTCAAAATTCT
ACCACCCAGAAATCAGAAATATTTTGTATTTGGATATGTTTGTCTAGAAGAGTAGATTGCTTGATTAAAAGACAGAGTTTTATAAATGTAGAAGCCAATATGACATACATGCTGCCATTAAATAATAA
AAAATTAAATTGACTTTTATCTCAAGATAAGATTAAAATTGGAGGGTAAAACTGAAGAAATTGTTGAAATTTGGATGGTGCTTCTTTAAAGCAAGAGATTTAGAGAGTCAGAGCTTTTTATCCCAGGT
TTCAATCTTTATTTCAGGAAAATTTTCTGCAATTTTGTCTAAGTTAATTTTTTTTTTTTAAGAAATGCCAATTATGTCAAATCCCTTTTGTCTCTATACAATAGTCCCCAACTGTTTTGGCAACAGGC
ACGGGTGAGGGTGGGGGAATGGTTTTCAGATGAAATTGTTCCATCTCAGATCATCAGGCATTAGTCGATTCTCATAAGGAGCGGACAACCTTGCATGCCCTCCTATGAGAATCTAATGCCGCCGCTAA
TCTGACAGGAGGCAGAGCTCAGGCGATAATGCTCAATGGGTGCCACTCACCTCCTGTTGTGCTGCCCAATTCCTAACAGGTCATGGATAAGTACTGGTCAGTGGCCCAGGGGTTGGGGACCACTGCTC
TGTAACTATTTACAGTATTCTTTGTAACTACTTTGGTATCTTTAAAATTTTCTTTAACTTTTGTCAACCATAACCCTAGTGAGTTTTCAGTTGTGATTATTCTATTTTGTAACTTCCAATGTACTTTT
CAACTTCATAATGGTTAATTTTGTTTTCCATTGCTTTCTTGGTCACTGTCATTTCATTTTTCTTCTCTTTCTCTATTTTTACCATTGCTTTATTGAAATATCTTCTTTGAGCTTCTCATGTTTCTCTA
TTAATGAGATCATGTCTATAATATTTTTTGAGACTACAGAGACCTATTTATATAAACTCTTCCTCTATTTCTTGAAAAAGTTTTTATCTGGCGTGAGCTTCATCTGCTTTTTCATTGAGGTTTTATCT
CCCTTGCCTATTTTTGGGGCTGGTTTCTTTCTATTAATCACTGAGCAGAGCCAGCTATTTACTGAACTACAGTGTGGGAAGTGGTGGGAGGGTGAGTCAGATCAGCCCACAGAAGCTATTTAAATTTC
AGGTTTCAAGCCCACCTCCCCAAAACCGTTTTATGTGTTTTTTCTTCTGCCCAGGCACCATATTTTTATATCTATTTTTGACATTTGGGCGGCCTATGTAGTTCACAGTGTAAAACTCTCTGTTTTAC
TTTCTTTATGTTATTGCTAGTGATTATTGCTTGTAGTCCCACCCCCTTCCCCACATTAGCCTTAGTATTCTATATTATTCAGCAAGCTTGTTCACAACTCTCAAATATAGTCTATCAGAATTTTTATC
TTTACCTCTACATTCCACTATTCGGAAGTATATAGTAAAATCGTATGAAGACAGATTTTGTCTTTTTCTTGCCTGTTTACACTCTATCTTACAGAGGTTTCAAACAAACCATCTTTGTTTGAAACATC
GCAGGATAATGATACTTATTGAAATCTACATCCTGCCCAAGATATATGCCAGTCAATTTCCTTTCTCCTATTAGTGCAAATGGCTACCTACTTAAAAGCTGCTGACTATAGTTTGTCATCAATTACTT
GTTAATTACAGATATGGTTTTCATTTTTTTTTCTCAATTTTTCATTATGTTATTTTTGGAGACTGTCTTAGGTGGGGAGTGAATTATAAATATTTTTATTTCACCACCTTTAACTGAGTCACCATATG
TTATTTGCACTTCCAATAGACCAGGGATTGACCAGAGTATCTTTTACTGATATGACCACCAGAGCTACATGGCTTTTACCTTCTGTATATCAGATGTCACTGGAATCAAGCATTAAACCTAGATTAAA
TCTGGATTAAACCAGCTGTATGGCACCTTAGAAAATTGAGAAGGACTAGGAAGCTGATAGAAAGAACTCCTGTATAAAAAATAAATTCTTTTTACATTTTCCTTGGTAGTATTTCTGCAAGCTTCTTT
AGTTTCTATAGGGGAATCCCAGAGTTTTCCTCTGAGATTGCTTCCCTTTCCTTTGTATTTTCATTTTTCCCTCTTGGGCTTTACTTTTCAGTCGTGTATTTCTATCCCAATGTTAATTTATTACACTG
TTTATATTTTCCTGTCCTTCAATTCATCAGTAGATTAGTGAAGTACTTATTCCTTTAATTATAAGTATAAACGTTTTTAATTTCTTTTTGGATAACGATACATTTAATGGAAAATTTTTAAATGCTAT
GGTTTCTTAATAGCTTTTCTCTACCACTAATTACTTCCGTTAAAAAAAAAAAGAAATACCCATGCGTAATATAAAAGAAATTTTGAATAAAATGTTATCCTTTCCTTTTACTAGAGACAAACATCTCC
ACTTCAAAATGGAAAAATGGAACTATGCAAAGGAAATTTACGATATTCAAGAGTATGATATTATCACTGAACCGATTAATTTAATTGAAAATACTAACCTGCAAAAAAGAATTACACAAATGTATTTG
AAATGTCATCAGATACCTCAAGCTATGACAGAGTTGATTATGTTACACAAGTAGTAAAGGATAAATTAAATATATTCTATATTAACACTAAGATTTAAAACTAATTATAGTCTTCTTTAATTTTTCTA
CTGTATACATTTCATCTAGTTTTCAGTAAAACAAACTTTTCATTACTTTTACTTATCCCATGCAAATCTAGTTGCTATAAGATATAACCTAATTTGGAAATACCTCCCTGTAATACATTGGAATTTTG
GTGTGAGTGTGTGTGATCAGAGAGGATAAACAAATGGTGTCAGCAAAATAGAATGTAAAATATGGAGATAATGTGGATTTACACAATTTGATAAAAATTCTCCCTTGAATTTTGCAGATCATATATGA
ATATCATCATGTGAAGTGCAATTAGGATTTTTTCATATATTAATACATATACATCATCTCTTTAATAAAATATTTTGCTGAACTCGTTTAATATTTCTCATGTCTCATATTTCATATTTTCTCATATG
TCTCATATTTTATATTTTCTCATATGTGTCTCATTTTTATTATTACTATAGTATCCATTAAAGGAGACTGGCAAATACCTGAACAAAGTTATGTTGTTGGCAATATAAGATATTACCAATTGCATAAT
ATTATTTCCAAAGGCAAATTAATATGCAAACTATAGATTTCCATGGGTATCTATACAAATTATTACTTGAAGTCCATAGAAAACAGCTTCCTTAGAGGGAAGTAAAAGAAGCTCTGATAACAGACAAT
GTATAGCATTTCAGTTAAAGTTTGATTGACATATTTTTTTCTCAGTCTTTTATACTTGTGAATTATAGTCTACATTTTGTCTTTACAGATGTTGCTAACACAGTGCAGCATGTTGGCTTGTCATTTTA
CTGATTATGTATATTGTCTCCTAGTTCAAGTATACAGTAAATCAGAGCTTTCATTTTTCAAGGGGCAGAAAAATAATTGTTGGTTGATAAGGTAAGGTTATATGATTTTGAGGGAGCTTCATTGTAAA
TTGAATGAGAATCCGGTTTTCATGCAAAGGTGTATCTATGCGATAATACTTTGAATGTCTGTAGTTTGAAATAGAAGGTTAATTTTTTCCACTGGCTTATCCTTAATGAAGGAAATCCCCTGATAATT
ACTTTGATTCTGAAAATGTTGAAAACTCCAGAAGAAATAAAGCTTTTCTTTGATTTCTCAGCTGAAGTGTTGTACAAACTGAGGAATATGAAGTCCATTCCCTTCTTTCTTCTCTTGAATAATTTTAA
AATTGTTTGTTTAGTTGTACAATTGAAAATATTCCTTATTATAGAAGTAAAAAAACAATAATGCATATTTCCTCATATCATAAAAACTAAATTTGTTATCATCTGAGCTTCAATATTCTTGCTCAATT
AGAATAGTAAATATAAAGTGTGATATTTATAACAGTTCAAGGTTTGATAGGAGATAGAGGTGTTTTGATTTTATGGGAAAATTACTTCCTCAAGAACACATTTCTTGAGGTTTTAGTAATCACATTTG
ACTCCCTGAAATTGGCAATTTTATTCAATGTAGGAATATTATCATGGTATATTATAGTGAGGAGCACATAGTCATTATTATTTTGTTTTTGCAAATTTATTTTGAAAAAAAGGAGCATTATCAAATAT
TGGTTTACTATTTTAAAGTAATTCATCAGGAAATGATTTTTTAAACACTGTCCCTTTAAGTAAATGTCCCTTGCTTTTCAAAGCTCAACTTATTACTTATGGTAATAGAGTTACTTTGCTTCTTAAAA
CAAAGTTTATACTAGAGCATAGCATTGTAGAATTATTCAGGTCTCAATTTCTCACTGGAAAATGAGTCTTTAAAATAGTAAGGATTTAAATTTCTATAAAATTTAATCACAGATACTTATATTTTAAG
ATAAATGTGTTGGAGCTAAACTCTGGAATTATTAAAATATAAAACATTATATCCCTCTAATGTATTTTTTCTATTTAAATTTAAAACAATAAACATAAATATCTTTGGAA

hide sequence


Protein RefSeqs	NP_000800	(Get FASTA)	NCBI Sequence Viewer
	NP_001191195	(Get FASTA)	NCBI Sequence Viewer
	NP_001191196	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA74743	(Get FASTA)	NCBI Sequence Viewer
	AAB52519	(Get FASTA)	NCBI Sequence Viewer
	AAH35055	(Get FASTA)	NCBI Sequence Viewer
	AHW56480	(Get FASTA)	NCBI Sequence Viewer
	AHW56676	(Get FASTA)	NCBI Sequence Viewer
	BAG52228	(Get FASTA)	NCBI Sequence Viewer
	EAW93029	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000264318
	ENSP00000264318.3
GenBank Protein	P48169	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000800 ⟸ NM_000809
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q8IYR7 (UniProtKB/Swiss-Prot), P48169 (UniProtKB/Swiss-Prot), X5D7F5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVW TPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKSVEVPKESSSLVQYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKM GYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANL NMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSG SGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM hide sequence

RefSeq Acc Id:	NP_001191196 ⟸ NM_001204267
- Peptide Label:	isoform 3
- UniProtKB:	P48169 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLQRWFLPRSLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSF GPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKS VEVPKESSSLVQYDLIGQTVSSETIKSITGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRT NALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKI DKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM hide sequence

RefSeq Acc Id:	NP_001191195 ⟸ NM_001204266
- Peptide Label:	isoform 2
- UniProtKB:	P48169 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLQRWFLPRSLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSF GPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKGPEKS VEVPKESSSLVQYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAA VNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRK ASVGSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM hide sequence

Ensembl Acc Id:

ENSP00000424386 ⟸ ENST00000502874

Ensembl Acc Id:

ENSP00000425445 ⟸ ENST00000508560

Protein Domains

Neurotransmitter-gated ion-channel ligand-binding Neurotransmitter-gated ion-channel transmembrane

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P48169-F1-model_v2	AlphaFold	P48169	1-554	view protein structure

RGD ID:

6802335

Promoter ID:

HG_KWN:48161

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000216893

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	46,690,401 - 46,690,967 (-)	MPROMDB

RGD ID:

6867342

Promoter ID:

EPDNEW_H6836

Type:

initiation region

Name:

GABRA4_1

Description:

gamma-aminobutyric acid type A receptor alpha4 subunit

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	46,993,532 - 46,993,592	EPDNEW

Database	Acc Id	Source(s)
COSMIC	GABRA4	COSMIC
Ensembl Genes	ENSG00000109158	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000264318	ENTREZGENE
	ENST00000264318.4	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.58.390	UniProtKB/Swiss-Prot
	2.70.170.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000109158	GTEx
HGNC ID	HGNC:4078	ENTREZGENE
Human Proteome Map	GABRA4	Human Proteome Map
InterPro	GABAA/Glycine_rcpt	UniProtKB/Swiss-Prot
	GABAAa_rcpt	UniProtKB/Swiss-Prot
	GABBAa4_rcpt	UniProtKB/Swiss-Prot
	Gabra-1-6_TM	UniProtKB/Swiss-Prot
	Neur_chan_lig-bd	UniProtKB/Swiss-Prot
	Neur_chan_lig-bd_sf	UniProtKB/Swiss-Prot
	Neur_channel	UniProtKB/Swiss-Prot
	Neuro-gated_channel_TM_sf	UniProtKB/Swiss-Prot
	Neuro_actylchol_rec	UniProtKB/Swiss-Prot
	Neurotrans-gated_channel_TM	UniProtKB/Swiss-Prot
	Neurotransmitter_ion_chnl_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:2557	UniProtKB/Swiss-Prot
NCBI Gene	2557	ENTREZGENE
OMIM	137141	OMIM
PANTHER	PTHR18945	UniProtKB/Swiss-Prot
Pfam	Neur_chan_LBD	UniProtKB/Swiss-Prot
	Neur_chan_memb	UniProtKB/Swiss-Prot
PharmGKB	PA28492	PharmGKB
PRINTS	GABAARALPHA	UniProtKB/Swiss-Prot
	GABAARALPHA4	UniProtKB/Swiss-Prot
	GABAARECEPTR	UniProtKB/Swiss-Prot
	NRIONCHANNEL	UniProtKB/Swiss-Prot
PROSITE	NEUROTR_ION_CHANNEL	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF63712	UniProtKB/Swiss-Prot
	SSF90112	UniProtKB/Swiss-Prot
UniProt	D6R924_HUMAN	UniProtKB/TrEMBL
	D6RB66_HUMAN	UniProtKB/TrEMBL
	GBRA4_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q8IYR7	ENTREZGENE
	X5D7F5	ENTREZGENE, UniProtKB/TrEMBL
	X5DP75_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	Q8IYR7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-12-03	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	GABRA4	gamma-aminobutyric acid type A receptor alpha4 subunit	Symbol and/or name change	5135510	APPROVED
2016-02-10	GABRA4	gamma-aminobutyric acid type A receptor alpha4 subunit		gamma-aminobutyric acid (GABA) A receptor, alpha 4	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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Imported Disease Annotations - CTD