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Gene

gjb8

ID
ZDB-GENE-040406-1
Name
gap junction protein beta 8
Symbol
gjb8 Nomenclature History
Previous Names
  • cx30.3 (1)
  • cx33.8 (1)
  • zgc:110651
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Enables gap junction channel activity. Acts upstream of or within inner ear development. Predicted to be located in gap junction and plasma membrane. Predicted to be integral component of membrane. Predicted to be part of connexin complex. Is expressed in several structures, including central nervous system; fin; liver; pleuroperitoneal region; and sensory system. Human ortholog(s) of this gene implicated in several diseases, including Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; ectodermal dysplasia (multiple); and nonsyndromic deafness (multiple). Orthologous to several human genes including GJB2 (gap junction protein beta 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Chang-Chien et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gjb8 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant keratitis-ichthyosis-deafness syndrome Alliance Keratitis-ichthyosis-deafness syndrome 148210
autosomal dominant nonsyndromic deafness 3A Alliance Deafness, autosomal dominant 3A 601544
autosomal dominant nonsyndromic deafness 3B Alliance Deafness, autosomal dominant 3B 612643
autosomal recessive nonsyndromic deafness 1A Alliance Deafness, autosomal recessive 1A 220290
autosomal recessive nonsyndromic deafness 1A Alliance Deafness, digenic GJB2/GJB6 220290
autosomal recessive nonsyndromic deafness 1B Alliance Deafness, autosomal recessive 1B 612645
Bart-Pumphrey syndrome Alliance Bart-Pumphrey syndrome 149200
Clouston syndrome Alliance Ectodermal dysplasia 2, Clouston type 129500
palmoplantar keratoderma-deafness syndrome Alliance Keratoderma, palmoplantar, with deafness 148350
Vohwinkel syndrome Alliance Vohwinkel syndrome 124500
Hystrix-like ichthyosis with deafness 602540
Associated With gjb8 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:Q503F4 267
UniProtKB:Q8AWR3 297
UniProtKB:A0A2R8PYQ0 297
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