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 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 brain. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to several human genes including 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