Gene

gja3

ID
ZDB-GENE-031217-3
Name
gap junction protein, alpha 3
Symbol
gja3 Nomenclature History
Previous Names
  • Cx44 (1)
  • cx46 (2)
  • cx48.5 (1)
  • dco (1)
  • dococ (1)
  • unm s215
  • unm s226
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Enables gap junction hemi-channel activity. Acts upstream of or within several processes, including cardiac muscle tissue development; cell communication by electrical coupling; and post-embryonic eye morphogenesis. Predicted to be integral component of plasma membrane. Predicted to be part of connexin complex. Is expressed in several structures, including kidney; liver; pericardial region; retina; and spinal cord. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Orthologous to human GJA3 (gap junction protein alpha 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gja3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cataract 14 multiple types Alliance Cataract 14, multiple types 601885
Associated With gja3 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
Domain IPR031862 Gap junction alpha-5 protein (Cx40), C-terminal
Family IPR000500 Connexin
Family IPR002262 Gap junction alpha-3 protein (Cx46)
Homologous_superfamily IPR034634 Connexin, C-terminal
Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Connexin Connexin, conserved site Connexin, C-terminal Connexin, N-terminal Connexin, N-terminal domain superfamily Gap junction alpha-3 protein (Cx46) Gap junction alpha-5 protein (Cx40), C-terminal Gap junction protein, cysteine-rich domain
UniProtKB:Q8JFD2 434
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