Entity Details

Primary name GJA3
Entity type gene
Source Source Link

Details

PrimaryID2700
RefseqGeneNG_016399
SymbolGJA3
Namegap junction protein alpha 3
Chromosome13
Location13q12.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCXA3_HUMAN

GO terms

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GOName
GO:0005243 gap junction channel activity
GO:0005887 integral component of plasma membrane
GO:0005922 connexin complex
GO:0007267 cell-cell signaling
GO:0007601 visual perception
GO:0055077 gap junction hemi-channel activity
GO:1990349 gap junction-mediated intercellular transport

Diseases

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Disease IDSourceNameDescription
601885 OMIMCataract 14, multiple types (CTRCT14)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions