Gene

gabrg2

ID
ZDB-GENE-091118-65
Name
gamma-aminobutyric acid type A receptor subunit gamma2
Symbol
gabrg2 Nomenclature History
Previous Names
  • si:ch211-145n14.1
Type
protein_coding_gene
Location
Chr: 21 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; dendrite membrane; and postsynapse. Is expressed in central nervous system and eye. Human ortholog(s) of this gene implicated in childhood absence epilepsy; early infantile epileptic encephalopathy; and familial febrile seizures 8. Orthologous to human GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2).
Genome Resources
Note
None
Expression
All Expression Data
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Liao et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gabrg2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 74 Alliance Developmental and epileptic encephalopathy 74 618396
familial febrile seizures 8 Alliance Epilepsy, generalized, with febrile seizures plus, type 3 607681
familial febrile seizures 8 Alliance Febrile seizures, familial, 8 607681
Associated With gabrg2 Via Experimental Models
Human Disease Fish Conditions Citations
epilepsy gabrg2udm302/udm302 control Liao et al., 2019
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 IPR005437 Gamma-aminobutyric-acid A receptor, gamma 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, gamma 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:F1RDP2 477
UniProtKB:E7FF94 370
UniProtKB:A0A2R8Q1Q9 469
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