Gene

gabrb2a

ID
ZDB-GENE-030131-8196
Name
gamma-aminobutyric acid type A receptor subunit beta2a
Symbol
gabrb2a Nomenclature History
Previous Names
  • gabrb2
  • fj59e04
  • si:ch211-215g18.1
  • wu:fj59e04
  • zgc:136311
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Contributes to GABA-gated chloride ion channel activity. Involved in protein heterotrimerization. Predicted to localize to several cellular components, including GABA-A receptor complex; integral component of plasma membrane; and neuron projection. Is expressed in nervous system. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gabrb2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
infantile or early childhood epileptic encephalopathy 2 Alliance Epileptic encephalopathy, infantile or early childhood, 2 617829
Associated With gabrb2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018000 Neurotransmitter-gated ion-channel, conserved site
Domain IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Domain IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
Family IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
Family IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
Family IPR006201 Neurotransmitter-gated ion-channel
Homologous_superfamily IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
Homologous_superfamily IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Domain Details Per Protein
Protein Length Gamma-aminobutyric-acid A receptor, beta subunit Gamma-aminobutyric acid A receptor/Glycine receptor alpha Neurotransmitter-gated ion-channel Neurotransmitter-gated ion-channel, conserved site Neurotransmitter-gated ion-channel ligand-binding domain Neurotransmitter-gated ion-channel ligand-binding domain superfamily Neurotransmitter-gated ion-channel transmembrane domain Neurotransmitter-gated ion-channel transmembrane domain superfamily
UniProtKB:E9QE94 290
UniProtKB:Q9DDD9 519
UniProtKB:F1R406 436
UniProtKB:A4FUK8 519
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations