CST3

cystatin C

Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]

Known Variants44 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6085295320:23,609,920G/Tregulatory region variant—
rs611420520:23,609,953G/Aregulatory region variant—
rs1303830520:23,610,262C/Tregulatory region variant—
rs91111920:23,612,737C/Gcoding sequence variant—
rs242457720:23,613,750G/Aupstream gene variant—
rs1304107020:23,614,261G/Aupstream gene variant—
rs14164369920:23,614,570T/C—benign
rs7700093620:23,614,577C/T—likely benign
rs251534323020:23,614,618G/A—conflicting classifications of pathogenicity
rs75551385020:23,614,632G/A—uncertain significance
rs139487962220:23,614,633C/G—uncertain significance
rs160036376420:23,615,908G/A—conflicting classifications of pathogenicity
rs75889450520:23,615,913T/C—uncertain significance
rs135560811720:23,615,958G/A—uncertain significance
rs77388360320:23,615,961C/T—uncertain significance
rs197962809920:23,615,966C/T—likely benign
rs2893906820:23,615,967A/Tmissense variantpathogenic
rs116551988720:23,615,981G/C—uncertain significance
rs3561004020:23,616,469T/Cregulatory region variant—
rs76853033420:23,618,240C/A—likely benign
rs36897198220:23,618,246G/A—likely benign
rs57415207520:23,618,265G/T—benign
rs37374326820:23,618,277C/T—uncertain significance
rs20214557520:23,618,286C/A—benign
rs1154236020:23,618,288C/T—uncertain significance
rs251534884620:23,618,315T/C—uncertain significance
rs56324406520:23,618,316T/G—uncertain significance
rs75411492620:23,618,332G/A—likely benign
rs77877444220:23,618,341C/T—benign
rs20108935520:23,618,362C/T—benign
rs139474244420:23,618,382T/G—uncertain significance
rs613802420:23,618,395T/C—benign
rs147621632320:23,618,398G/T—likely benign
rs20024533720:23,618,412C/T—likely benign
rs106403920:23,618,427C/Tmissense variantpathogenic
rs103568323420:23,618,437C/T—likely benign
rs251534950420:23,618,453G/C—uncertain significance
rs75829811520:23,618,467C/G—likely benign
rs74695513120:23,618,482G/A—benign
rs105508420:23,618,488A/G—benign
rs7331813520:23,618,571T/G—benign
rs7133420220:23,618,652A/G——
rs382714320:23,619,617A/Gupstream gene variant—
rs376128020:23,620,076A/Gupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.