Gene

gjc2

ID
ZDB-GENE-040912-134
Name
gap junction protein gamma 2
Symbol
gjc2 Nomenclature History
Previous Names
  • cx47.1 (1)
  • zgc:92348 (1)
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
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gjc2 Human Ortholog
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
Associated With gjc2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017990 Connexin, conserved site
Domain IPR013092 Connexin, N-terminal
Domain IPR019570 Gap junction protein, cysteine-rich domain
Family IPR000500 Connexin
Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations