Gene

gjb1a

ID
ZDB-GENE-010619-2
Name
gap junction protein beta 1a
Symbol
gjb1a Nomenclature History
Previous Names
  • cx27.5 (1)
  • zfCx27.5 (1)
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to localize to connexin complex. Is expressed in several structures, including heart; liver; nervous system; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked dominant 1. Orthologous to human GJB1 (gap junction protein beta 1).
Genome Resources
Note
None
Expression
All Expression Data
6 figures from 5 publications
Cross-Species Comparison
High Throughput Data
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 gjb1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease X-linked dominant 1 Alliance Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
Associated With gjb1a 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:Q2VJ87 254
UniProtKB:Q9DF29 240
UniProtKB:Q9YI62 109
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations