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 act upstream of or within cell communication. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in eye. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. 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