AKR1C2

aldo-keto reductase family 1 member C2

Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Known Variants85 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6805777910:5,030,148T/Cdownstream gene variant—
rs1090438310:5,031,877C/T—benign
rs11336161010:5,031,891G/T—benign
rs11334993410:5,032,015C/T—benign
rs1277473310:5,032,284C/T—benign
rs430763010:5,032,286C/G—benign
rs1235534710:5,032,434A/C—benign
rs20175925210:5,033,837C/A—benign
rs19974377010:5,033,838A/G—benign
rs20069896810:5,034,016T/C—benign
rs38790675110:5,034,053T/Gmissense variantpathogenic
rs55977944110:5,034,156A/G—benign
rs11328068610:5,034,217C/T—benign
rs11321827710:5,034,382T/C—benign
rs1090438610:5,035,176C/G——
rs280188710:5,037,260T/C—benign
rs78190833510:5,037,531G/A—uncertain significance
rs155477279710:5,037,570G/A—uncertain significance
rs78182841110:5,037,574C/T—likely benign
rs78250304310:5,037,584C/T—uncertain significance
rs78219551710:5,037,585G/A—benign
rs78268034010:5,037,593A/C—uncertain significance
rs155477282310:5,037,637G/T—likely benign
rs20160613610:5,037,715G/C—benign
rs7839696810:5,037,718A/G—benign
rs290480710:5,037,913A/G—benign
rs14695152610:5,037,914G/C—benign
rs1322210:5,037,962A/C—pathogenic
rs11199954210:5,038,105T/C—benign
rs251803410:5,038,149G/C—benign
rs54805710710:5,038,179C/T—likely benign
rs249006510:5,040,518G/A—benign
rs251804410:5,040,637C/T—benign
rs285449010:5,040,672A/C—benign
rs285448910:5,040,737A/T—benign
rs78178951510:5,040,818T/G—uncertain significance
rs78260101310:5,040,848G/A—uncertain significance
rs56333276510:5,040,854T/G—uncertain significance
rs14640399910:5,040,886G/A—likely benign
rs155477345210:5,040,938G/A—uncertain significance
rs285448810:5,041,033C/T—benign
rs3576758410:5,041,296C/A—benign
rs6185606610:5,041,375C/T—benign
rs320790910:5,041,398T/C—benign
rs37767462210:5,041,426A/T—uncertain significance
rs55668064710:5,041,455C/A—likely benign
rs11346508910:5,041,577C/T—benign
rs1181892610:5,041,594G/A—benign
rs1125287410:5,041,658A/G—benign
rs302066810:5,041,680A/G—benign
rs1276449810:5,042,294T/C—benign
rs6185606810:5,042,316A/T—benign
rs1125287510:5,042,320A/G—benign
rs227592910:5,042,664C/T—benign
rs14596753110:5,042,747C/T—likely benign
rs1394510:5,042,784G/A—benign
rs249136083410:5,042,796A/T—uncertain significance
rs135073343010:5,042,819C/T—uncertain significance
rs78254878210:5,042,821G/A—uncertain significance
rs138454778310:5,042,824C/T—uncertain significance
rs79704446010:5,042,841A/Cmissense variantpathogenic
rs14021673310:5,043,120T/C—benign
rs6736253010:5,043,504G/A—benign
rs38790675010:5,043,723T/Cmissense variantpathogenic
rs14267256310:5,043,747C/G—conflicting classifications of pathogenicity
rs14216599810:5,043,778C/G—uncertain significance
rs78221007810:5,043,803G/T—uncertain significance
rs155477384210:5,043,816G/C—uncertain significance
rs285448210:5,043,821A/T—benign
rs56564287110:5,043,874C/G—uncertain significance
rs1181912810:5,044,033T/G—benign
rs1277246010:5,044,096A/G—benign
rs14828161910:5,045,700A/G—benign
rs280192910:5,045,723T/G—benign
rs7582482410:5,045,804C/A—benign
rs6185608410:5,045,834T/G—benign
rs1125287610:5,045,862A/G—benign
rs13849966010:5,045,974G/A—likely benign
rs56300928910:5,046,013G/A—likely benign
rs117142012910:5,046,023T/A—uncertain significance
rs280188410:5,046,368C/T—benign
rs193787010:5,046,387G/T—likely benign
rs20189075310:5,046,548G/T—likely benign
rs6724580710:5,049,598C/G——
rs6185609110:5,052,812C/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.