Gene
gja8a
- ID
- ZDB-GENE-050616-14
- Name
- gap junction protein alpha 8 paralog a
- Symbol
- gja8a Nomenclature History
- Previous Names
-
- cx50.5
- cx79.8 (1)
- si:dkey-18p12.7
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be involved in cell communication. Predicted to localize to connexin complex and integral component of membrane. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Is expressed in eye. Orthologous to human GJA8 (gap junction protein alpha 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 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 |
|---|---|---|---|
| cataract 1 multiple types | Alliance | Cataract 1, multiple types | 116200 |
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 |
| Family | IPR000500 | Connexin |
| Family | IPR002266 | Gap junction alpha-8 protein (Cx50) |
| Homologous_superfamily | IPR038359 | Connexin, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | Connexin | Connexin, conserved site | Connexin, N-terminal | Connexin, N-terminal domain superfamily | Gap junction alpha-8 protein (Cx50) | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8N1Z0D3
|
709 |
Interactions and Pathways
No data available
Plasmids
No data available