Gene
gjb1a
- ID
- ZDB-GENE-010619-2
- Name
- gap junction protein beta 1a
- Symbol
- gjb1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 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 Charcot-Marie-Tooth disease X-linked dominant 1. Is expressed in several structures, including heart; liver; nervous system; otic vesicle; and pleuroperitoneal region. Orthologous to human GJB1 (gap junction protein beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu281 (1 image)
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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease X-linked dominant 1 | Alliance | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | 302800 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Connexin | Connexin, conserved site | Connexin, N-terminal | Connexin, N-terminal domain superfamily | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q9DF29
|
240 | |||||
|
UniProtKB:Q2VJ87
|
254 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cx27.5-201
(1)
|
Ensembl | 1,344 nt | ||
| mRNA |
cx27.5-202
(1)
|
Ensembl | 1,432 nt |
Interactions and Pathways
No data available
Plasmids
No data available