Gene

gabrb2b

ID
ZDB-GENE-111215-5
Name
gamma-aminobutyric acid type A receptor subunit beta2b
Symbol
gabrb2b Nomenclature History
Previous Names
  • gabrb2l
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have GABA-A receptor activity and extracellular ligand-gated ion channel activity. Predicted to be involved in ion transmembrane transport. Predicted to localize to integral component of membrane and plasma membrane. Human ortholog(s) of this gene implicated in autistic disorder and infantile or early childhood epileptic encephalopathy 2. Orthologous to human GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
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
Sequence Targeting Reagents
Human Disease
Associated With gabrb2b 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 gabrb2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein Length
UniProtKB:A0A8M2BLN4 191
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations