KLF7
KLF transcription factor 7
Summary
The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185875033 | 2:207,941,567 | C/T | 3 prime UTR variant | — |
| rs772264714 | 2:207,945,953 | A/G | — | uncertain significance |
| rs2076264425 | 2:207,945,992 | G/A | — | uncertain significance |
| rs113701414 | 2:207,953,241 | G/A | — | benign |
| rs1057518995 | 2:207,953,249 | C/T | — | pathogenic |
| rs1271272 | 2:207,955,477 | G/A | intron variant | — |
| rs74946207 | 2:207,956,967 | G/A | regulatory region variant | — |
| rs750699704 | 2:207,988,609 | C/A | — | uncertain significance |
| rs2469207484 | 2:207,988,611 | C/A | — | uncertain significance |
| rs750610237 | 2:207,988,656 | C/G | — | uncertain significance |
| rs376354914 | 2:207,988,665 | G/A | — | uncertain significance |
| rs2077410023 | 2:207,988,744 | T/G | — | uncertain significance |
| rs1487760253 | 2:207,988,776 | G/A | — | uncertain significance |
| rs201827394 | 2:207,988,780 | T/C | — | uncertain significance |
| rs747043061 | 2:207,988,794 | C/T | — | uncertain significance |
| rs2469209306 | 2:207,988,806 | G/A | — | uncertain significance |
| rs2469209321 | 2:207,988,807 | G/T | — | uncertain significance |
| rs1231413667 | 2:207,988,812 | G/A | — | uncertain significance |
| rs1276619385 | 2:207,988,821 | G/A | — | conflicting classifications of pathogenicity |
| rs2469209595 | 2:207,988,833 | A/C | — | uncertain significance |
| rs200699335 | 2:207,988,838 | G/A | — | likely benign |
| rs149924747 | 2:207,988,859 | G/A | — | likely benign |
| rs2469210517 | 2:207,988,903 | G/A | — | uncertain significance |
| rs369397059 | 2:207,988,929 | C/T | — | uncertain significance |
| rs2469211056 | 2:207,988,944 | T/G | — | uncertain significance |
| rs1315759997 | 2:207,988,965 | C/T | — | uncertain significance |
| rs139952837 | 2:207,988,985 | G/A | — | benign |
| rs1470391523 | 2:207,989,000 | T/G | — | uncertain significance |
| rs1171719090 | 2:207,989,002 | A/C | — | uncertain significance |
| rs368678068 | 2:207,989,008 | G/A | — | uncertain significance |
| rs1233005901 | 2:207,989,022 | A/G | — | uncertain significance |
| rs762688630 | 2:207,989,027 | C/T | — | likely benign |
| rs61743721 | 2:207,989,060 | G/A | — | benign |
| rs2469212526 | 2:207,989,070 | A/C | — | uncertain significance |
| rs2077423085 | 2:207,989,077 | C/T | — | uncertain significance |
| rs2284934 | 2:207,998,800 | C/T | — | benign |
| rs3791995 | 2:208,010,353 | C/G | intron variant | — |
| rs2284932 | 2:208,012,509 | G/A | intron variant | — |
| rs7568369 | 2:208,031,315 | G/T | regulatory region variant | — |
| rs2078739906 | 2:208,031,863 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.