Gene
gjb10
- ID
- ZDB-GENE-040406-3
- Name
- gap junction protein beta 10
- Symbol
- gjb10 Nomenclature History
- Previous Names
-
- cx34.4 (1)
- zgc:194201
- zgc:194216
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within heart contraction. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in several structures, including heart; kidney; liver; retina; and spinal cord. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva 2. Orthologous to several human genes including GJB4 (gap junction protein beta 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zoidl et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Okamoto et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| erythrokeratodermia variabilis et progressiva 2 | Alliance | Erythrokeratodermia variabilis et progressiva 2 | 617524 |
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:B3DIR8
|
299 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cx34.4-201
(1)
|
Ensembl | 1,143 nt |
Interactions and Pathways
No data available
Plasmids
No data available