KAZALD1
Kazal type serine peptidase inhibitor domain 1
Summary
This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373979754 | 10:102,820,930 | G/A | — | — |
| rs201640457 | 10:102,822,322 | C/T | regulatory region variant | — |
| rs2493180337 | 10:102,822,432 | C/T | — | uncertain significance |
| rs7906652 | 10:102,822,436 | C/T | — | benign |
| rs1223897059 | 10:102,822,496 | G/C | — | uncertain significance |
| rs773408522 | 10:102,822,543 | G/C | — | uncertain significance |
| rs61731071 | 10:102,822,560 | A/T | — | benign |
| rs1022032038 | 10:102,822,648 | G/T | — | uncertain significance |
| rs762754411 | 10:102,822,665 | C/T | — | uncertain significance |
| rs377420625 | 10:102,822,669 | A/C | — | uncertain significance |
| rs1564656419 | 10:102,822,671 | T/C | — | uncertain significance |
| rs755862146 | 10:102,822,687 | G/T | — | uncertain significance |
| rs2493182772 | 10:102,822,701 | C/T | — | uncertain significance |
| rs554605498 | 10:102,822,737 | T/A | — | uncertain significance |
| rs1939208720 | 10:102,822,788 | C/T | — | uncertain significance |
| rs770667289 | 10:102,822,828 | T/G | — | uncertain significance |
| rs767531301 | 10:102,824,056 | G/A | — | uncertain significance |
| rs766560180 | 10:102,824,083 | T/C | — | uncertain significance |
| rs1268056647 | 10:102,824,102 | C/T | — | uncertain significance |
| rs755285725 | 10:102,824,105 | T/C | — | uncertain significance |
| rs780808613 | 10:102,824,116 | G/C | — | uncertain significance |
| rs140069883 | 10:102,824,160 | C/A | — | uncertain significance |
| rs1348017309 | 10:102,824,177 | A/G | — | uncertain significance |
| rs138428691 | 10:102,824,305 | C/T | — | benign |
| rs192798373 | 10:102,824,316 | G/A | — | uncertain significance |
| rs36116329 | 10:102,824,352 | G/A | — | benign |
| rs763412141 | 10:102,824,379 | C/T | — | uncertain significance |
| rs192613188 | 10:102,824,615 | C/T | — | likely benign |
| rs368900664 | 10:102,824,616 | G/A | — | uncertain significance |
| rs563015684 | 10:102,824,631 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.