ST14

ST14 transmembrane serine protease matriptase

Summary

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

Known Variants161 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2836580911:130,029,661T/C—benign
rs13785293211:130,029,877G/Amissense variantpathogenic
rs37005114511:130,029,880G/A—benign
rs37270226211:130,029,895C/T—likely benign
rs78171748011:130,029,910C/T—likely benign
rs147982586411:130,029,924G/T—uncertain significance
rs254073483511:130,029,945C/T—uncertain significance
rs374088311:130,030,038T/C—benign
rs5583355211:130,057,992C/T—benign
rs6264251011:130,058,047A/G—benign
rs37365532011:130,058,107C/T—likely benign
rs134817481711:130,058,112T/C—uncertain significance
rs74651559911:130,058,115T/A—uncertain significance
rs195325823811:130,058,165C/T—likely pathogenic
rs213621181911:130,058,169G/A—likely pathogenic
rs7358520111:130,058,406G/A—benign
rs76197170111:130,058,436C/T—uncertain significance
rs6262128511:130,058,437G/A—benign
rs92977757411:130,058,490G/C—uncertain significance
rs6264251211:130,058,498C/T—benign
rs14674589311:130,058,513C/T—likely benign
rs77878301011:130,058,540G/C—uncertain significance
rs145229410611:130,058,541G/A—uncertain significance
rs7944538111:130,059,647A/G—benign
rs254075167511:130,059,674A/T—uncertain significance
rs14284865111:130,059,685C/T—likely benign
rs76381800911:130,059,697G/C—likely benign
rs15098412311:130,059,701G/A—conflicting classifications of pathogenicity
rs20057215611:130,059,704C/A—uncertain significance
rs14822108011:130,059,705G/A—benign
rs133223822611:130,059,706C/T—likely benign
rs11675988111:130,059,715C/T—likely benign
rs37656903311:130,059,723G/A—uncertain significance
rs19140468911:130,059,743C/T—conflicting classifications of pathogenicity
rs75285872411:130,059,744G/A—uncertain significance
rs53285627211:130,059,750G/A—uncertain significance
rs126615771611:130,059,751C/T—likely benign
rs159188758711:130,059,778A/C—likely benign
rs37356866211:130,059,800G/A—likely benign
rs47874511:130,060,217T/C—benign
rs19981988811:130,060,344C/T—likely benign
rs254075252911:130,060,353C/T—likely benign
rs37681949811:130,060,359C/G—uncertain significance
rs14334249011:130,060,371C/T—likely benign
rs75817603411:130,060,375C/T—uncertain significance
rs37100513111:130,060,376G/T—uncertain significance
rs37085034311:130,060,393C/G—uncertain significance
rs76524161011:130,060,422C/T—benign
rs14426663311:130,060,453G/A—likely benign
rs54201452511:130,060,467C/T—likely benign
rs130412671611:130,060,511C/T—uncertain significance
rs7923158011:130,060,512G/A—benign
rs37096280411:130,060,518C/T—likely benign
rs74632014311:130,060,528G/A—uncertain significance
rs76918127611:130,060,539G/A—likely benign
rs14417046811:130,060,554C/T—benign
rs712690411:130,060,569G/A—benign
rs85870411:130,060,612A/G—benign
rs7668778011:130,064,039C/G—likely benign
rs77202126311:130,064,061C/A—uncertain significance
rs14549306511:130,064,099G/A—uncertain significance
rs104817915211:130,064,175G/A—likely benign
rs146575317111:130,064,192G/C—likely benign
rs61000511:130,064,223A/G—benign
rs20217938711:130,064,546C/T—uncertain significance
rs14692471311:130,064,553G/A—benign
rs6264251411:130,064,567A/G—benign
rs254075521511:130,064,604C/A—uncertain significance
rs59766111:130,064,647G/A—benign
rs59757611:130,064,705G/A—benign
rs711357811:130,064,747A/G—benign
rs67211011:130,066,089A/C—benign
rs1766760311:130,066,261C/A—uncertain significance
rs14817007811:130,066,290C/T—likely benign
rs55776679811:130,066,294G/A—uncertain significance
rs76026046111:130,066,324G/A—uncertain significance
rs47610611:130,066,335C/T—benign
rs18710600911:130,066,353C/T—benign
rs77952432811:130,066,358G/C—likely benign
rs85871311:130,066,372G/A—benign
rs53318770611:130,066,451C/T—benign
rs20103183211:130,066,460T/C—benign
rs195336773011:130,066,477G/C—uncertain significance
rs13885551211:130,066,489C/T—likely benign
rs36817656111:130,066,493G/A—uncertain significance
rs14207696611:130,066,496A/G—uncertain significance
rs7560979211:130,066,501C/T—benign
rs13956426111:130,066,523C/T—uncertain significance
rs76317107411:130,066,550G/A—uncertain significance
rs14409967111:130,066,555C/T—likely benign
rs195336893511:130,066,556G/A—likely pathogenic
rs14869402311:130,066,582C/T—benign
rs77734235011:130,066,587C/T—uncertain significance
rs424508611:130,066,867T/C—benign
rs424508711:130,066,871C/T—benign
rs224218411:130,066,900C/T—benign
rs232400111:130,066,902G/A—benign
rs15120249211:130,067,760G/A—uncertain significance
rs58386311:130,067,764T/G—benign
rs19976787411:130,067,789C/T—likely benign

Showing 100 of 161 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.