KLF2
KLF transcription factor 2
Summary
This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3745317 | 19:16,435,445 | G/A | — | benign |
| rs1172870328 | 19:16,435,771 | A/G | — | uncertain significance |
| rs2512911020 | 19:16,435,799 | G/C | — | uncertain significance |
| rs7248864 | 19:16,435,853 | T/C | — | benign |
| rs2512911815 | 19:16,436,103 | T/C | — | uncertain significance |
| rs2512911893 | 19:16,436,118 | T/C | — | uncertain significance |
| rs901623443 | 19:16,436,177 | C/G | — | uncertain significance |
| rs755357629 | 19:16,436,214 | C/G | — | uncertain significance |
| rs575772626 | 19:16,436,225 | G/A | — | uncertain significance |
| rs3745318 | 19:16,436,262 | T/C | — | benign |
| rs768382004 | 19:16,436,267 | C/T | — | uncertain significance |
| rs1171265830 | 19:16,436,312 | G/A | — | uncertain significance |
| rs982602898 | 19:16,436,342 | G/A | — | uncertain significance |
| rs2091886569 | 19:16,436,348 | G/C | — | uncertain significance |
| rs3745319 | 19:16,436,376 | G/A | — | benign |
| rs1406390812 | 19:16,436,381 | C/T | — | uncertain significance |
| rs925532181 | 19:16,436,387 | G/A | — | uncertain significance |
| rs2091886836 | 19:16,436,399 | G/A | — | uncertain significance |
| rs935510326 | 19:16,436,401 | G/T | — | uncertain significance |
| rs2512913326 | 19:16,436,466 | A/C | — | uncertain significance |
| rs1026935621 | 19:16,436,486 | G/A | — | uncertain significance |
| rs1403651403 | 19:16,436,513 | G/T | — | uncertain significance |
| rs45586037 | 19:16,436,569 | G/A | synonymous variant | — |
| rs2512913856 | 19:16,436,603 | G/C | — | uncertain significance |
| rs2512914299 | 19:16,436,725 | G/A | — | likely benign |
| rs15336 | 19:16,438,013 | A/C | — | benign |
| rs11086029 | 19:16,438,661 | T/G | — | — |
| rs2362475 | 19:16,439,835 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.