Gene
gjc2
- ID
- ZDB-GENE-040912-134
- Name
- gap junction protein gamma 2
- Symbol
- gjc2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 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 hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Erbaba et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| hereditary lymphedema IC | Alliance | Lymphatic malformation 3 | 613480 |
| hereditary spastic paraplegia 44 | Alliance | ?Spastic paraplegia 44, autosomal recessive | 613206 |
| hypomyelinating leukodystrophy 2 | Alliance | Leukodystrophy, hypomyelinating, 2 | 608804 |
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:Q66HV7
|
409 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cx47.1-201
(1)
|
Ensembl | 2,074 nt |
Interactions and Pathways
No data available
Plasmids
No data available