KLK5
kallikrein related peptidase 5
Summary
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369452061 | 19:51,446,955 | G/A | — | uncertain significance |
| rs146723372 | 19:51,446,966 | C/T | — | likely benign |
| rs762297287 | 19:51,446,967 | G/A | — | uncertain significance |
| rs61729816 | 19:51,446,970 | C/A | — | uncertain significance |
| rs753623477 | 19:51,447,033 | C/T | — | uncertain significance |
| rs183578707 | 19:51,447,939 | G/A | intron variant | — |
| rs2514017785 | 19:51,451,945 | T/C | — | uncertain significance |
| rs150072734 | 19:51,451,954 | C/T | — | uncertain significance |
| rs758457993 | 19:51,451,957 | G/A | — | uncertain significance |
| rs766308131 | 19:51,451,958 | G/A | — | uncertain significance |
| rs374835129 | 19:51,451,970 | C/T | — | likely benign |
| rs768795873 | 19:51,451,999 | T/C | — | uncertain significance |
| rs2514018342 | 19:51,452,127 | T/C | — | uncertain significance |
| rs2232534 | 19:51,452,193 | T/C | missense variant | — |
| rs200140569 | 19:51,452,216 | C/T | — | likely benign |
| rs201704991 | 19:51,452,226 | T/C | — | uncertain significance |
| rs761551466 | 19:51,452,262 | C/T | — | uncertain significance |
| rs749303309 | 19:51,452,286 | G/C | — | uncertain significance |
| rs779000882 | 19:51,452,298 | C/A | — | uncertain significance |
| rs2514022325 | 19:51,453,153 | A/G | — | uncertain significance |
| rs373080885 | 19:51,453,232 | C/T | — | uncertain significance |
| rs759724894 | 19:51,453,285 | G/A | — | uncertain significance |
| rs775791294 | 19:51,453,369 | T/C | — | likely benign |
| rs1227079942 | 19:51,455,849 | C/A | — | uncertain significance |
| rs780814101 | 19:51,455,856 | G/C | — | uncertain significance |
| rs1435359197 | 19:51,455,866 | G/C | — | uncertain significance |
| rs1294281295 | 19:51,455,879 | A/G | — | uncertain significance |
| rs149486880 | 19:51,455,898 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.