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. Is expressed in nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 59 and nicotine dependence. Orthologous to human GABBR2 (gamma-aminobutyric acid type B receptor subunit 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

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 gabbr2 Human Ortholog

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

Associated With gabbr2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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