InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GJA3

Summary

InnateDB Protein

IDBP-13116.5

Last Modified

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

Gene Symbol

GJA3

Protein Name

gap junction protein, alpha 3, 46kDa

Synonyms

CTRCT14; CX46; CZP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000241125

InnateDB Gene

IDBG-13114 (GJA3)

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

Cataract 14, multiple types (CTRCT14) [MIM:601885]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269PubMed:10205266, ECO:0000269PubMed:10746562, ECO:0000269PubMed:14627959, ECO:0000269PubMed:15208569, ECO:0000269PubMed:15286166, ECO:0000269PubMed:15448617, ECO:0000269PubMed:16234473, ECO:0000269PubMed:16254549, ECO:0000269PubMed:16885921, ECO:0000269PubMed:16971895, ECO:0000269PubMed:17615540, ECO:0000269PubMed:17893674, ECO:0000269PubMed:20431721, ECO:0000269PubMed:21552498, ECO:0000269PubMed:21647269, ECO:0000269PubMed:21681855, ECO:0000269PubMed:21897748}. 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 4 experimentally validated interaction(s) in this database.