Gene

gja5b

ID
ZDB-GENE-050616-11
Name
gap junction protein, alpha 5b
Symbol
gja5b Nomenclature History
Previous Names
  • cx41.8
  • leo
  • leopard
  • tup (1)
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Exhibits gap junction hemi-channel activity. Involved in adult behavior; melanocyte differentiation; and melanocyte migration. Predicted to localize to connexin complex. Is expressed in brain; eye; fin; heart; and integument. Human ortholog(s) of this gene implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Orthologous to human GJA5 (gap junction protein alpha 5).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
26 figures from 12 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gja5b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atrial standstill 1 Alliance Atrial standstill, digenic (GJA5/SCN5A) 108770
familial atrial fibrillation Alliance Atrial fibrillation, familial, 11 614049
Associated With gja5b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017990 Connexin, conserved site
Domain IPR013092 Connexin, N-terminal
Domain IPR019570 Gap junction protein, cysteine-rich domain
Domain IPR031862 Gap junction alpha-5 protein (Cx40), C-terminal
Family IPR000500 Connexin
Family IPR002264 Gap junction alpha-5 protein (Cx40)
Homologous_superfamily IPR034634 Connexin, C-terminal
Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Connexin Connexin, conserved site Connexin, C-terminal Connexin, N-terminal Connexin, N-terminal domain superfamily Gap junction alpha-5 protein (Cx40) Gap junction alpha-5 protein (Cx40), C-terminal Gap junction protein, cysteine-rich domain
UniProtKB:Q3S2N4 370
UniProtKB:B3DID2 370
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations