AutismKB 2.0

Annotation Details for GABRG2


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Basic Information Top
Gene Symbol:GABRG2 ( CAE2,ECA2,GEFSP3 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 2
Band: 5q34
Quick LinksEntrez ID:2566; OMIM: 137164; Uniprot ID:GBRG2_HUMAN; ENSEMBL ID: ENSG00000113327; HGNC ID: 4087
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887ISS-integral component of plasma membrane-
GO:0030054IEA-cell junction-
GO:0030424IEA-axon-
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0032590ISS-dendrite membrane-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:1902711ISS-GABA-A receptor complex-
GO ID Evidence Qualifier GO_term References
GO:0004890ISS-GABA-A receptor activity-
GO:0005230IEA-extracellular ligand-gated ion channel activity-
GO:0005254ISS-chloride channel activity-
GO:0005515IPI-protein binding9892355
GO:0008503TAS-benzodiazepine receptor activity2538761
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport2538761
GO:0007214IEA-gamma-aminobutyric acid signaling pathway-
GO:0009791IEA-post-embryonic development-
GO:0030534IEA-adult behavior-
GO:0034220TAS-ion transmembrane transport-
GO:0051932ISS-synaptic transmission, GABAergic-
GO:0071420ISS-cellular response to histamine-
GO:1902476ISS-chloride transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GABRG2DRD510884010659839 Affinity Capture-Western; Reconstituted Complex
GABRG2DRD510815010659839 Affinity Capture-Western; Reconstituted Complex
GABARAPGABRG21088409892355 11779480 11948245 Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
GABARAPGABRG21164659892355 11779480 11948245 Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
GABRG2GABRG2_1128+99C/A, GABRG2_315C/T, GABRG2_E216Q, hCV15874871, rs11135176, rs169793, rs183294, rs188379, rs209350, rs209351, rs209353, rs209356, rs209357, rs209358, rs2103475, rs210982, rs210983, rs210989, rs210990, rs211013, rs211014, rs211015, rs211029, rs211037, rs2268583, rs2422106, rs2910062, rs2910223, rs365054, rs418210, rs647625, rs766349, rs989694 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:95623
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

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