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 and integral component of membrane. Human ortholog(s) of this gene implicated in atrial fibrillation; familial atrial fibrillation; and tetralogy of Fallot. Is expressed in brain; eye; fin; heart; and integument. Orthologous to human GJA5 (gap junction protein alpha 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 14 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
Interactions and Pathways
No data available
Plasmids
No data available