HPN
hepsin
Summary
This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs786205835 | 19:35,530,020 | G/A | — | pathogenic |
| rs72550247 | 19:35,530,029 | G/A | regulatory region variant | pathogenic |
| rs773899049 | 19:35,533,415 | C/T | — | uncertain significance |
| rs368912553 | 19:35,540,199 | C/T | — | uncertain significance |
| rs149970077 | 19:35,540,200 | G/A | — | conflicting classifications of pathogenicity |
| rs2514262723 | 19:35,540,211 | T/C | — | uncertain significance |
| rs147639470 | 19:35,540,228 | G/C | — | uncertain significance |
| rs1347186627 | 19:35,540,230 | T/C | — | uncertain significance |
| rs200861567 | 19:35,540,409 | C/T | — | uncertain significance |
| rs149131600 | 19:35,549,122 | C/A | — | — |
| rs79831835 | 19:35,550,704 | C/G | — | benign |
| rs199680814 | 19:35,550,869 | A/G | — | likely benign |
| rs1434982680 | 19:35,550,877 | G/T | — | uncertain significance |
| rs45512696 | 19:35,550,878 | C/T | synonymous variant | — |
| rs748911838 | 19:35,551,314 | G/A | — | uncertain significance |
| rs141619716 | 19:35,551,574 | G/A | — | uncertain significance |
| rs140635924 | 19:35,551,614 | A/T | — | uncertain significance |
| rs2514290589 | 19:35,551,616 | G/T | — | uncertain significance |
| rs12981585 | 19:35,551,624 | C/T | — | benign |
| rs1688044 | 19:35,552,079 | C/A | — | — |
| rs2445818 | 19:35,553,449 | A/G | intron variant | — |
| rs1688040 | 19:35,553,830 | G/C | intron variant | — |
| rs28616221 | 19:35,554,479 | G/A | intron variant | — |
| rs4806073 | 19:35,555,190 | T/C | regulatory region variant | — |
| rs4396637 | 19:35,555,996 | G/C | — | — |
| rs1600399802 | 19:35,556,157 | A/G | — | uncertain significance |
| rs1688031 | 19:35,556,640 | T/G | — | — |
| rs1672991 | 19:35,556,659 | A/C | — | — |
| rs1272303783 | 19:35,556,781 | G/A | — | uncertain significance |
| rs1253307577 | 19:35,556,808 | A/G | — | uncertain significance |
| rs542419907 | 19:35,556,809 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.