| Primary Identifier | MGI:95623 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14406 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables GABA-A receptor activity; chloride channel activity; and transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in cellular response to histamine; chloride transmembrane transport; and inhibitory synapse assembly. Acts upstream of or within several processes, including adult behavior; chemical synaptic transmission; and gamma-aminobutyric acid signaling pathway. Located in axon and plasma membrane. Part of GABA-A receptor complex. Is active in GABA-ergic synapse. Is expressed in central nervous system; eye; palatal shelf; and peripheral nervous system ganglion. Used to study generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in alcohol dependence; alcoholic liver cirrhosis; childhood absence epilepsy; developmental and epileptic encephalopathy 74; and familial febrile seizures 8. Orthologous to human GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
