ASPH

aspartate beta-hydroxylase

Summary

This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

Known Variants149 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1418613758:62,415,937C/T—uncertain significance
rs1456550918:62,415,969C/T—likely benign
rs3743858788:62,415,992G/Amissense variantpathogenic
rs1470920468:62,416,016C/T—uncertain significance
rs1129826468:62,416,020G/A—likely benign
rs12276188578:62,416,049C/T—uncertain significance
rs8958295848:62,416,065G/C—likely benign
rs7693775838:62,416,068C/A—uncertain significance
rs70056178:62,416,074G/A—benign
rs169188818:62,416,173G/A—benign
rs5578177918:62,430,108A/G—uncertain significance
rs10233090618:62,430,129A/T—uncertain significance
rs3729154838:62,430,142G/T—uncertain significance
rs1491869838:62,430,188G/A—benign
rs12256353488:62,430,208T/C—likely benign
rs1512789958:62,430,611T/C—likely benign
rs47389048:62,438,530G/A—benign
rs7758900308:62,438,544C/T—pathogenic
rs3749999488:62,438,549C/A—likely benign
rs7525429648:62,438,634C/T—uncertain significance
rs18152102328:62,438,637T/A—uncertain significance
rs3754456208:62,438,643C/T—uncertain significance
rs7492021328:62,438,654C/T—pathogenic
rs21296256558:62,438,665C/A—likely pathogenic
rs18152231738:62,438,689G/A—likely benign
rs10173051958:62,460,673G/A—uncertain significance
rs7815080638:62,460,699G/T—pathogenic
rs25468329378:62,460,714C/T—likely pathogenic
rs745265658:62,460,868C/T—benign
rs101132728:62,460,886A/G—benign
rs169274798:62,460,894G/A—benign
rs169274818:62,461,018T/C—benign
rs786841128:62,465,482C/T—benign
rs42898058:62,465,580T/C—benign
rs21311165478:62,465,590C/T—likely pathogenic
rs5329229328:62,465,604C/T—uncertain significance
rs9455585758:62,465,620C/T—likely benign
rs3756089998:62,465,626G/A—likely benign
rs42912658:62,465,795T/C—benign
rs43794408:62,465,814G/Tintron variantbenign
rs169274978:62,468,198T/C—benign
rs3696036678:62,468,502T/A—uncertain significance
rs3742781378:62,468,505G/T—uncertain significance
rs13176492288:62,468,534G/A—likely benign
rs18277340958:62,468,537A/T—pathogenic
rs3776407738:62,468,543G/A—likely benign
rs18277450668:62,468,595A/C—likely benign
rs38022888:62,475,097T/A—benign
rs38022878:62,475,160A/G—benign
rs38022868:62,475,276C/T—benign
rs617312388:62,475,338C/T—benign
rs12014198848:62,475,352C/T—uncertain significance
rs2000727898:62,475,356C/T—uncertain significance
rs5543325458:62,475,393T/C—likely benign
rs1486403298:62,475,431T/C—uncertain significance
rs38242698:62,475,518G/C—benign
rs2019515178:62,479,729A/C—uncertain significance
rs7727110488:62,479,750C/T—uncertain significance
rs7511313058:62,479,754G/A—uncertain significance
rs1381634438:62,479,764C/T—likely benign
rs612260138:62,479,925T/A—benign
rs100907548:62,479,934C/T—benign
rs70097628:62,480,070G/A—benign
rs1429162198:62,481,520A/Gintron variant—
rs557679848:62,489,214T/A—benign
rs7701021828:62,489,330C/T—likely pathogenic
rs169275748:62,489,334T/C—benign
rs7737316758:62,489,353C/T—uncertain significance
rs78262558:62,489,538C/A—benign
rs64719628:62,496,415C/T—benign
rs7651057578:62,496,495C/T—likely benign
rs69954128:62,496,504C/A—benign
rs7604757888:62,496,516T/C—uncertain significance
rs1399529648:62,496,539T/C—benign
rs1498282208:62,496,545A/G—benign
rs7464502058:62,496,554A/C—uncertain significance
rs126792938:62,531,311T/A—benign
rs10064781628:62,531,578T/C—uncertain significance
rs355504518:62,531,670T/C—benign
rs1180539388:62,531,698C/T—benign
rs169276528:62,531,897G/A—benign
rs784698598:62,538,944T/A—benign
rs1127608348:62,540,134G/Tdownstream gene variant—
rs25480257398:62,546,244G/A—uncertain significance
rs1456863338:62,546,252T/A—uncertain significance
rs1117084848:62,546,280C/T—uncertain significance
rs7463546578:62,550,491A/G—likely benign
rs1411972418:62,550,551G/A—conflicting classifications of pathogenicity
rs1149643658:62,550,894C/A—benign
rs9984278:62,550,936A/C—benign
rs7487586858:62,555,430A/G—likely benign
rs7782508888:62,555,432A/C—likely benign
rs1480641938:62,555,454C/T—likely benign
rs569477388:62,555,734T/C—benign
rs25482175228:62,555,953T/C—uncertain significance
rs7576907938:62,555,977A/T—uncertain significance
rs121144148:62,556,203G/C—benign
rs9292418198:62,556,500A/T—uncertain significance
rs78258618:62,556,590C/T—benign
rs11844843368:62,557,143T/G—likely benign

Showing 100 of 149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.