Gene
gjb1b
- ID
- ZDB-GENE-050616-3
- Name
- gap junction protein beta 1b
- Symbol
- gjb1b Nomenclature History
- Previous Names
-
- cx31.7 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable gap junction channel activity. Acts upstream of or within glial cell development and retina development in camera-type eye. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked dominant 1. Orthologous to human GJB1 (gap junction protein beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Charlton-Perkins et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease X-linked dominant 1 | Alliance | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | 302800 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Connexin | Connexin, conserved site | Connexin, N-terminal | Connexin, N-terminal domain superfamily | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:E7FF16 | InterPro | 275 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cx31.7-201
(1)
|
Ensembl | 1,377 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available