AutismKB 2.0

Annotation Details for GABRR2


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Basic Information Top
Gene Symbol:GABRR2 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, rho 2
Band: 6q15
Quick LinksEntrez ID:2570; OMIM: 137162; Uniprot ID:GBRR2_HUMAN; ENSEMBL ID: ENSG00000111886; HGNC ID: 4091
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane1315307
GO:0030054IEA-cell junction-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:1902711IBA-GABA-A receptor complex-
GO ID Evidence Qualifier GO_term References
GO:0004890IBAcontributes_toGABA-A receptor activity-
GO:0005230IEA-extracellular ligand-gated ion channel activity-
GO:0005254IEA-chloride channel activity-
GO:0019904IEA-protein domain specific binding-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport1315307
GO:0007165TAS-signal transduction1315307
GO:0007214IEA-gamma-aminobutyric acid signaling pathway-
GO:0007268TAS-chemical synaptic transmission1315307
GO:0007601IEA-visual perception-
GO:0034220TAS-ion transmembrane transport-
GO:1902476IEA-chloride transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95626
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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