Gene

gjb1b

ID
ZDB-GENE-050616-3
Name
gap junction protein beta 1b
Symbol
gjb1b Nomenclature History
Previous Names
  • cx31.7 (1)
Type
protein_coding_gene
Location
Chr: 14 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 Charcot-Marie-Tooth disease X-linked dominant 1. Orthologous to human GJB1 (gap junction protein beta 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Charlton-Perkins et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gjb1b 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 gjb1b 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:E7FF16 275
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