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 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

11 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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