KLK7
kallikrein related peptidase 7
Summary
This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112736390 | 19:51,480,829 | G/A | — | benign |
| rs760820716 | 19:51,480,834 | C/G | — | uncertain significance |
| rs17855561 | 19:51,480,876 | G/A | — | benign |
| rs73932697 | 19:51,480,930 | C/A | — | benign |
| rs148515610 | 19:51,480,931 | G/A | — | uncertain significance |
| rs1722558 | 19:51,482,762 | A/C | — | — |
| rs2122246478 | 19:51,483,055 | T/G | — | uncertain significance |
| rs780507301 | 19:51,483,117 | T/C | — | uncertain significance |
| rs370146929 | 19:51,483,135 | G/C | — | uncertain significance |
| rs888054629 | 19:51,483,154 | C/T | — | uncertain significance |
| rs2514136231 | 19:51,483,157 | A/T | — | uncertain significance |
| rs528282329 | 19:51,483,497 | A/T | — | uncertain significance |
| rs112070660 | 19:51,483,507 | G/A | — | uncertain significance |
| rs147827338 | 19:51,483,524 | G/A | — | benign |
| rs750110597 | 19:51,483,550 | G/A | — | uncertain significance |
| rs1294731696 | 19:51,483,589 | A/G | — | uncertain significance |
| rs1322872442 | 19:51,483,624 | A/G | — | uncertain significance |
| rs754335978 | 19:51,483,637 | C/T | — | uncertain significance |
| rs375221546 | 19:51,483,658 | C/T | — | uncertain significance |
| rs765835597 | 19:51,483,690 | C/G | — | uncertain significance |
| rs143034119 | 19:51,483,704 | G/C | — | uncertain significance |
| rs759162373 | 19:51,483,733 | C/T | — | uncertain significance |
| rs2739419 | 19:51,484,562 | A/T | — | — |
| rs749663401 | 19:51,485,057 | G/A | — | uncertain significance |
| rs771147048 | 19:51,485,062 | T/C | — | uncertain significance |
| rs202017472 | 19:51,485,086 | A/G | — | uncertain significance |
| rs757088371 | 19:51,485,093 | T/G | — | uncertain significance |
| rs780992617 | 19:51,485,117 | A/G | — | uncertain significance |
| rs769843452 | 19:51,485,630 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.