Gene
gja8b
- ID
- ZDB-GENE-010607-3
- Name
- gap junction protein alpha 8 paralog b
- Symbol
- gja8b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Exhibits gap junction hemi-channel activity. Predicted to be involved in cell communication. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Is expressed in several structures, including eye; kidney; liver; solid lens vesicle; and spinal cord. Orthologous to human GJA8 (gap junction protein alpha 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu59 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Ping et al., 2021
- 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 | 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-8 protein (Cx50) | Gap junction protein, cysteine-rich domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q503J6
|
391 |
Interactions and Pathways
No data available
Plasmids
No data available