Gene
gabbr2
- ID
- ZDB-GENE-060503-620
- Name
- gamma-aminobutyric acid (GABA) B receptor, 2
- Symbol
- gabbr2 Nomenclature History
- Previous Names
-
- si:dkey-190l1.2
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have G protein-coupled GABA receptor activity. Predicted to be involved in gamma-aminobutyric acid signaling pathway. Predicted to localize to G protein-coupled receptor heterodimeric complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 59 and nicotine dependence. Is expressed in nervous system. Orthologous to human GABBR2 (gamma-aminobutyric acid type B receptor subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 59 | Alliance | Developmental and epileptic encephalopathy 59 | 617904 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 617903 | ||
| {Nicotine dependence, protection against} | 188890 | ||
| {Nicotine dependence, susceptibility to} | 188890 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017979 | GPCR, family 3, conserved site |
| Domain | IPR001828 | Receptor, ligand binding region |
| Domain | IPR017978 | GPCR family 3, C-terminal |
| Domain | IPR041689 | Gamma-aminobutyric acid type B receptor subunit 2, coiled-coil domain |
| Family | IPR000337 | GPCR, family 3 |
| Family | IPR002455 | GPCR family 3, GABA-B receptor |
| Family | IPR002457 | GPCR family 3, gamma-aminobutyric acid receptor, type B2 |
| Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
Domain Details Per Protein
| Protein | Length | Gamma-aminobutyric acid type B receptor subunit 2, coiled-coil domain | GPCR, family 3 | GPCR, family 3, conserved site | GPCR family 3, C-terminal | GPCR family 3, GABA-B receptor | GPCR family 3, gamma-aminobutyric acid receptor, type B2 | Periplasmic binding protein-like I | Receptor, ligand binding region |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q1LUN9
|
935 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gabbr2-201
(1)
|
Ensembl | 2,808 nt |
Interactions and Pathways
No data available
Plasmids
No data available