HR

HR lysine demethylase and nuclear receptor corepressor

Summary

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

Known Variants331 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12994241488:21,971,943A/G—uncertain significance
rs5379987858:21,971,951C/G—uncertain significance
rs5567312358:21,971,960A/G—uncertain significance
rs1858538618:21,972,063G/A—uncertain significance
rs9314527248:21,972,068G/A—uncertain significance
rs5368603108:21,972,088G/A—uncertain significance
rs18265404898:21,972,159G/A—uncertain significance
rs7755950768:21,972,193G/T—uncertain significance
rs764362088:21,972,282A/G—benign
rs1403878858:21,972,309G/A—uncertain significance
rs5646365958:21,972,319C/T—likely benign
rs7472702048:21,972,328G/A—uncertain significance
rs1427672368:21,972,393C/T—uncertain significance
rs1164561038:21,972,457C/A—benign
rs7771898278:21,972,462C/G—uncertain significance
rs9524024238:21,972,467G/C—uncertain significance
rs5368008658:21,972,479C/T—uncertain significance
rs7622619588:21,972,596C/G—uncertain significance
rs761093498:21,972,614A/C—benign
rs8860628038:21,972,616G/A—uncertain significance
rs5586623128:21,972,634G/A—uncertain significance
rs7634780168:21,972,793G/A—uncertain significance
rs1813100878:21,972,910C/T—uncertain significance
rs10443342278:21,972,918C/T—uncertain significance
rs5506030678:21,972,919G/A—uncertain significance
rs69948728:21,972,973T/G—benign
rs748692658:21,972,995A/G—benign
rs8860628048:21,973,028G/C—uncertain significance
rs5649018088:21,973,033C/T—uncertain significance
rs1120571228:21,973,131C/A—likely benign
rs1143295198:21,973,132G/A—benign
rs7690968048:21,973,137C/A—uncertain significance
rs1149937488:21,973,138C/T—likely benign
rs3690588418:21,973,183C/A—uncertain significance
rs7525832548:21,973,220G/T—uncertain significance
rs7537362008:21,973,239C/T—uncertain significance
rs7793122478:21,973,246C/T—uncertain significance
rs1214344508:21,973,257G/Astop gainedpathogenic
rs1166728568:21,973,730C/T—benign
rs792624998:21,973,801C/T—likely benign
rs2010300618:21,973,850G/C—likely benign
rs14412607058:21,973,858G/A—likely benign
rs7523737408:21,973,885G/A—likely benign
rs1214344488:21,973,913A/Gmissense variantuncertain significance
rs7679528398:21,973,914C/T—uncertain significance
rs25388668318:21,973,947T/C—likely benign
rs65578298:21,973,970C/A—benign
rs65578308:21,974,032C/A—benign
rs1401892328:21,974,370C/T—benign
rs7466657208:21,974,376G/T—likely benign
rs13539028218:21,974,414G/A—likely benign
rs7476969168:21,974,417C/G—uncertain significance
rs8860628058:21,974,426C/T—uncertain significance
rs1121731478:21,974,427G/T—benign
rs14195751448:21,974,428G/T—uncertain significance
rs5587671378:21,974,457G/A—conflicting classifications of pathogenicity
rs9950218388:21,974,463C/T—likely benign
rs7716046498:21,974,470C/A—uncertain significance
rs11962579478:21,974,476C/T—uncertain significance
rs7656177958:21,974,479C/T—uncertain significance
rs10180829458:21,974,483G/A—uncertain significance
rs1437824218:21,974,513G/C—benign
rs2019568608:21,974,516C/T—conflicting classifications of pathogenicity
rs5521531648:21,974,517G/T—likely benign
rs9563969148:21,974,537C/A—uncertain significance
rs5705536798:21,974,538C/T—uncertain significance
rs3761987438:21,974,545G/A—uncertain significance
rs1468558478:21,974,550C/T—benign
rs48723008:21,976,367A/G—benign
rs5592410818:21,976,448C/G—likely benign
rs1167032658:21,976,453G/A—benign
rs1436968738:21,976,477G/A—uncertain significance
rs1145071108:21,976,484G/A—benign
rs7812890568:21,976,503C/T—uncertain significance
rs5672827328:21,976,539G/A—uncertain significance
rs25388711808:21,976,566C/G—uncertain significance
rs25388711838:21,976,567C/G—uncertain significance
rs25388712058:21,976,577G/T—uncertain significance
rs8860628068:21,976,591G/C—uncertain significance
rs1470123508:21,976,698C/T—uncertain significance
rs18266704118:21,976,700G/C—uncertain significance
rs1381621688:21,976,706G/C—uncertain significance
rs70148518:21,976,710T/Cmissense variantbenign
rs15636172148:21,976,713C/T—uncertain significance
rs5546428828:21,976,725G/A—uncertain significance
rs14189116058:21,976,728T/G—uncertain significance
rs1214344518:21,976,740C/Tmissense variantpathogenic
rs1388754118:21,976,781C/T—uncertain significance
rs5744752078:21,976,788G/T—uncertain significance
rs126772788:21,976,872A/G—benign
rs351435138:21,977,101C/T—benign
rs25388727668:21,977,278G/C—uncertain significance
rs3742974168:21,977,297C/T—uncertain significance
rs25388728838:21,977,330A/T—uncertain significance
rs25388729288:21,977,350C/G—uncertain significance
rs7680428598:21,977,359G/A—uncertain significance
rs3683505208:21,977,360C/T—uncertain significance
rs1444824328:21,977,361G/A—benign
rs15545805328:21,977,364G/C—likely pathogenic
rs1484076888:21,977,388A/T—likely benign

Showing 100 of 331 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.