Annotation Details for GABRG1

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Basic Information Top

Gene Symbol:	GABRG1 ( DKFZp686H2042,MGC33838 )
Gene Full Name:	gamma-aminobutyric acid (GABA) A receptor, gamma 1
Band:	4p12
Quick Links	Entrez ID:2565; OMIM: 137166; Uniprot ID:GBRG1_HUMAN; ENSEMBL ID: ENSG00000163285; HGNC ID: 4086
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:4 results
Biological Process:3 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0030054	IEA	-	cell junction	-
GO:0034707	IEA	-	chloride channel complex	-
GO:0043235	IEA	-	receptor complex	-
GO:0045211	IEA	-	postsynaptic membrane	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0004890	IEA	-	GABA-A receptor activity	-
GO:0005230	IEA	-	extracellular ligand-gated ion channel activity	-
GO:0005254	IEA	-	chloride channel activity	-
GO:0050811	IEA	-	GABA receptor binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0007214	IEA	-	gamma-aminobutyric acid signaling pathway	-
GO:0007268	IEA	-	chemical synaptic transmission	-
GO:1902476	IEA	-	chloride transmembrane transport	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:103156
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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