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 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 several structures, including heart; liver; nervous system; otic vesicle; and pleuroperitoneal region. 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
- 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