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
- Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Predicted to localize to several cellular components, including GABA-A receptor complex; dendrite membrane; and postsynapse. Human ortholog(s) of this gene implicated in childhood absence epilepsy; early infantile epileptic encephalopathy; and familial febrile seizures 8. Is expressed in central nervous system and eye. Orthologous to human GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Liao et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 | Febrile seizures, familial, 8 | 607681 |
| familial febrile seizures 8 | Alliance | Generalized epilepsy with febrile seizures plus, type 3 | 607681 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| epilepsy | gabrg2udm302/udm302 | control | Liao et al., 2019 |
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 receptor subunit gamma-1/4 |
| 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 |
| Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
Domain Details Per Protein
| Protein | Length | Gamma-aminobutyric acid A receptor/Glycine receptor alpha | Gamma-aminobutyric acid receptor subunit gamma-1/4 | Neuronal acetylcholine receptor | 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:A0A8M1P4D6
|
476 | |||||||||
|
UniProtKB:A0A2R8Q1Q9
|
469 | |||||||||
|
UniProtKB:A0A8M2B8H9
|
468 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gabrg2-201
(1)
|
Ensembl | 1,381 nt | ||
| mRNA |
gabrg2-202
(1)
|
Ensembl | 1,434 nt | ||
| mRNA |
gabrg2-203
(1)
|
Ensembl | 1,434 nt | ||
| mRNA |
gabrg2-204
(1)
|
Ensembl | 1,410 nt |
Interactions and Pathways
No data available
Plasmids