Gene
gja5a
- ID
- ZDB-GENE-040407-3
- Name
- gap junction protein, alpha 5a
- Symbol
- gja5a Nomenclature History
- Previous Names
-
- cx45.6
- zgc:195347
- zgc:195362
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits gap junction channel activity. Predicted to be involved in cell communication. Predicted to localize to gap junction. Human ortholog(s) of this gene implicated in atrial fibrillation; familial atrial fibrillation; and tetralogy of Fallot. Is expressed in several structures, including cardiovascular system; digestive system; nervous system; pleuroperitoneal region; and skeletal muscle. Orthologous to human GJA5 (gap junction protein alpha 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 |
| 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), C-terminal | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QL21
|
400 | |||||||
|
UniProtKB:Q8AX88
|
400 |
Interactions and Pathways
No data available
Plasmids
No data available