Entity Details

Primary name CRYBA4
Entity type gene
Source Source Link

Details

PrimaryID1413
RefseqGeneNG_009825
SymbolCRYBA4
Namecrystallin beta A4
Chromosome22
Location22q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-01-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRBA4_HUMAN

GO terms

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GOName
GO:0002088 lens development in camera-type eye
GO:0005212 structural constituent of eye lens
GO:0007601 visual perception
GO:0042802 identical protein binding
GO:0043010 camera-type eye development

Diseases

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Disease IDSourceNameDescription
610425 OMIMCataract 23, multiple types (CTRCT23)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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. 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. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. 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

29 interactions

InteractorPartnerSourcesPublicationsLink
CRYBA4CRYBB1HPRD, IntAct, MINT17662718 31254514 details
CRYBA4CRYBB2HPRD, MINT17662718 details
CRYBA4CEP76BioGRID, IntAct25416956 25910212 31515488 details
CRYBA4IKZF3BioGRID, IntAct25910212 details
CRYBA4FHL5BioGRID, IntAct25910212 details
CRYBA4TRIP6BioGRID, IntAct25910212 details
CRYBA4C1orf94BioGRID, IntAct25910212 details
CRYBA4GLI1BioGRID, IntAct25910212 details
CRYBA4EFEMP1BioGRID, IntAct25910212 details
CRYBA4STX11BioGRID, IntAct25910212 details
CRYBA4MIF4GDBioGRID, IntAct25910212 details
CRYBA4CRYBA4IntAct31254514 details
CRYBA4CRYAA2IntAct31254514 details
CRYBA4CRYAAIntAct31254514 details
CRYBA4CCDC33BioGRID25910212 details
CRYBA4PRR22BioGRID25910212 details
CRYBA4MKS1BioGRID, IntAct28514442 details
CRYBA4DISC1BioGRID, IntAct28514442 details
CRYBA4DDB2BioGRID, IntAct28514442 details
CRYBA4RICTORBioGRID, IntAct28514442 details
CRYBA4CUL4BBioGRID, IntAct28514442 details
CRYBA4CUL4ABioGRID, IntAct28514442 details
CRYBA4FOXF2BioGRID, IntAct28514442 details
CRYBA4TJP1BioGRID, IntAct28514442 details
CRYBA4EML5BioGRID, IntAct28514442 details
CRYBA4PPOXBioGRID, IntAct28514442 details
CRYBA4UBBBioGRID, IntAct28514442 details
CRYBA4RBP4BioGRID, IntAct28514442 details
CRYBA4APAF1BioGRID, IntAct28514442 details