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 enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell communication. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in EVL; periderm; pharynx; and sensory system. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:112004 (14 images)

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