Gene
gja3
- ID
- ZDB-GENE-031217-3
- Name
- gap junction protein, alpha 3
- Symbol
- gja3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits gap junction hemi-channel activity. Involved in several processes, including cardiac muscle tissue development; cell communication by electrical coupling; and post-embryonic eye morphogenesis. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Is expressed in several structures, including kidney; liver; pericardial region; retina; and spinal cord. Orthologous to human GJA3 (gap junction protein alpha 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cataract 14 multiple types | Alliance | Cataract 14, multiple types | 601885 |
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:Q8JFD2
|
434 |
Interactions and Pathways
No data available
Plasmids
No data available