Gene

gabrb2a

ID

ZDB-GENE-030131-8196

Name

gamma-aminobutyric acid type A receptor subunit beta2a

Symbol

gabrb2a Nomenclature History

Previous Names

gabrb2
fj59e04
si:ch211-215g18.1
wu:fj59e04
zgc:136311

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Description

Predicted to have GABA-A receptor activity and extracellular ligand-gated ion channel activity. Predicted to be involved in several processes, including chemical synaptic transmission; nervous system process; and regulation of membrane potential. Predicted to localize to integral component of plasma membrane; neuron projection; and synapse. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Is expressed in nervous system. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

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 gabrb2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 92	Alliance	Developmental and epileptic encephalopathy 92	617829

Associated With gabrb2a Via Experimental Models

No data available

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	IPR002289	Gamma-aminobutyric-acid A receptor, beta 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
Homologous_superfamily	IPR038050	Neuronal acetylcholine receptor

Domain Details Per Protein

Protein	Length	Gamma-aminobutyric-acid A receptor, beta subunit	Gamma-aminobutyric acid A receptor/Glycine receptor alpha	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:Q9DDD9 InterPro	519
UniProtKB:A0A8M2BKD0 InterPro	472
UniProtKB:A4FUK8 InterPro	519
UniProtKB:A0A8M1N6N1 InterPro	519

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	gabrb2-201 (1) Ensembl	Havana	3200 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	gabrb2-202 (1) Ensembl	Havana	907 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	gabrb2-002 (1) Ensembl	Havana	880 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations