KLF5
KLF transcription factor 5
Summary
This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7989041 | 13:73,627,676 | T/C | — | — |
| rs9530141 | 13:73,628,708 | A/G | upstream gene variant | — |
| rs11841945 | 13:73,630,059 | G/C | regulatory region variant | — |
| rs58090485 | 13:73,631,519 | — | — | — |
| rs2044610993 | 13:73,633,491 | G/A | — | uncertain significance |
| rs990595749 | 13:73,633,520 | C/T | — | uncertain significance |
| rs2502281220 | 13:73,633,586 | C/T | — | uncertain significance |
| rs897433756 | 13:73,633,603 | C/G | — | uncertain significance |
| rs2044613211 | 13:73,633,631 | C/T | — | uncertain significance |
| rs2044613919 | 13:73,633,673 | C/T | — | uncertain significance |
| rs1396685294 | 13:73,633,674 | C/T | — | uncertain significance |
| rs557353198 | 13:73,633,683 | C/T | — | uncertain significance |
| rs779143542 | 13:73,633,725 | A/C | — | uncertain significance |
| rs1263466061 | 13:73,636,017 | A/C | — | uncertain significance |
| rs148819017 | 13:73,636,050 | A/G | — | uncertain significance |
| rs2139103766 | 13:73,636,101 | C/A | — | uncertain significance |
| rs2502288432 | 13:73,636,102 | A/C | — | uncertain significance |
| rs2044638802 | 13:73,636,114 | A/G | — | uncertain significance |
| rs762061316 | 13:73,636,290 | G/T | — | uncertain significance |
| rs777384829 | 13:73,636,351 | A/C | — | uncertain significance |
| rs115503899 | 13:73,636,392 | C/G | — | uncertain significance |
| rs1319853757 | 13:73,636,459 | G/C | — | uncertain significance |
| rs35967041 | 13:73,636,482 | A/G | — | benign |
| rs748275920 | 13:73,636,549 | C/T | — | uncertain significance |
| rs139182040 | 13:73,636,590 | A/G | — | uncertain significance |
| rs200195855 | 13:73,636,621 | A/C | — | uncertain significance |
| rs369230623 | 13:73,636,761 | A/G | — | uncertain significance |
| rs2044646731 | 13:73,636,837 | T/A | — | pathogenic |
| rs115797771 | 13:73,638,643 | A/C | regulatory region variant | — |
| rs9530143 | 13:73,639,371 | G/A | regulatory region variant | — |
| rs2044755923 | 13:73,649,889 | G/T | — | uncertain significance |
| rs367684900 | 13:73,649,966 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.