Gene

gjb3

ID
ZDB-GENE-050417-174
Name
gap junction protein beta 3
Symbol
gjb3 Nomenclature History
Previous Names
  • gjb3
  • cx35.4 (1)
  • wu:fb02c04
  • zgc:112004 (1)
Type
protein_coding_gene
Location
Chr: 17 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 autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Is expressed in EVL; periderm; pharynx; and sensory system. Orthologous to human GJB3 (gap junction protein beta 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression 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 gjb3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 2B Alliance Deafness, autosomal dominant 2B, with or without peripheral neuropathy 612644
autosomal recessive nonsyndromic deafness 1A Alliance Deafness, digenic, GJB2/GJB3 220290
erythrokeratodermia variabilis et progressiva 1 Alliance Erythrokeratodermia variabilis et progressiva 1 133200
Associated With gjb3 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:Q567J2
InterPro
304
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cx35.4-201 (1)
Ensembl
Ensembl 2,102 nt
mRNA cx35.4-202 (1)
Ensembl
Ensembl 923 nt
ZFIN BLAST
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.