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
6 figures from 6 publications
Cross-Species Comparison
High Throughput Data
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
1 - 6 of 6
Show
Sequence Targeting Reagents
No data available
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
1 - 1 of 1
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
1 - 5 of 9 Show all
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 519
UniProtKB:A0A8M2BKD0 472
UniProtKB:A4FUK8 519
UniProtKB:A0A8M1N6N1 519
1 - 4 of 4
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 14
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gabrb2-201 (1) Ensembl 3,200 nt
mRNA gabrb2-202 (1) Ensembl 907 nt
ncRNA gabrb2-002 (1) Ensembl 880 nt
1 - 3 of 3
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-215G18ZFIN Curated Data
Contained inBACDKEY-217K23ZFIN Curated Data
EncodesESTfj59e04
EncodescDNAMGC:136311ZFIN Curated Data
1 - 4 of 4
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGABRB25
Amino acid sequence comparison (3)
Phylogenetic tree (1)
Conserved genome location (synteny) (1)
MouseGabrb211
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Phylogenetic tree (1)
Citations
1 - 10 of 24
Show