AutismKB 2.0

Annotation Details for GABRE


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Basic Information Top
Gene Symbol:GABRE ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, epsilon
Band: Xq28
Quick LinksEntrez ID:2564; OMIM: 300093; Uniprot ID:GBRE_HUMAN; ENSEMBL ID: ENSG00000102287; HGNC ID: 4085
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0030054IEA-cell junction-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:1902711IDA-GABA-A receptor complex9039914
GO ID Evidence Qualifier GO_term References
GO:0004890IEA-GABA-A receptor activity-
GO:0022851IDA-GABA-gated chloride ion channel activity9039914
GO ID Evidence Qualifier GO_term References
GO:0007165IEA-signal transduction-
GO:1902476IEA-chloride transmembrane transport-
GO:2001226IDA-negative regulation of chloride transport9039914
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
GABRErs2256882 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1330235
  • 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