InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJB3

Summary

InnateDB Protein

IDBP-96009.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJB3

Protein Name

gap junction protein, beta 3, 31kDa

Synonyms

CX31; DFNA2; DFNA2B; EKV;

Species

Homo sapiens

Ensembl Protein

ENSP00000362464

InnateDB Gene

IDBG-96007 (GJB3)

Protein Structure

UniProt Annotation

Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Disease Associations

Erythrokeratodermia variabilis (EKV) [MIM:133200]: A genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269PubMed:10594760, ECO:0000269PubMed:10798362, ECO:0000269PubMed:9843209}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. {ECO:0000269PubMed:9843210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005243	gap junction channel activity
GO:0005515	protein binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001890	placenta development
GO:0007154	cell communication
GO:0007605	sensory perception of sound
GO:0043588	skin development
GO:0055085	transmembrane transport