POU6F2
POU class 6 homeobox 2
Summary
This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2116574924 | 7:39,017,615 | C/G | — | pathogenic |
| rs10435033 | 7:39,054,837 | G/A | upstream gene variant | — |
| rs17171519 | 7:39,060,312 | T/G | — | — |
| rs10464366 | 7:39,121,500 | A/T | intron variant | — |
| rs759457081 | 7:39,125,473 | C/A | — | uncertain significance |
| rs1008800772 | 7:39,125,495 | G/A | — | likely benign |
| rs2128720925 | 7:39,125,551 | C/T | — | uncertain significance |
| rs530262963 | 7:39,125,630 | C/T | — | likely benign |
| rs62442206 | 7:39,129,396 | A/C | intron variant | — |
| rs1525801 | 7:39,136,796 | A/T | intron variant | — |
| rs62442231 | 7:39,200,463 | A/G | — | — |
| rs9986786 | 7:39,237,586 | T/A | — | — |
| rs1044063838 | 7:39,243,839 | A/G | — | uncertain significance |
| rs373840004 | 7:39,243,864 | C/T | — | uncertain significance |
| rs759083422 | 7:39,243,881 | C/A | — | uncertain significance |
| rs143669624 | 7:39,243,904 | C/G | — | likely benign |
| rs940346614 | 7:39,243,918 | G/A | — | uncertain significance |
| rs1794037477 | 7:39,247,015 | G/T | — | uncertain significance |
| rs138865854 | 7:39,247,025 | T/C | — | uncertain significance |
| rs553475147 | 7:39,247,030 | G/A | — | uncertain significance |
| rs2534966382 | 7:39,247,055 | C/T | — | uncertain significance |
| rs751499789 | 7:39,247,061 | A/G | — | uncertain significance |
| rs138654387 | 7:39,247,074 | C/T | — | likely benign |
| rs6462899 | 7:39,296,489 | T/G | — | — |
| rs73126485 | 7:39,299,374 | C/T | intron variant | — |
| rs62453453 | 7:39,301,495 | C/T | intron variant | — |
| rs4621706 | 7:39,303,296 | C/T | intron variant | — |
| rs12701709 | 7:39,310,867 | T/G | — | — |
| rs76319873 | 7:39,318,083 | A/T | intron variant | — |
| rs566759150 | 7:39,379,280 | T/G | — | likely benign |
| rs538979252 | 7:39,379,281 | C/G | — | likely benign |
| rs558679060 | 7:39,379,286 | T/A | — | likely benign |
| rs575735871 | 7:39,379,287 | C/G | — | likely benign |
| rs121918261 | 7:39,379,302 | G/T | missense variant | pathogenic |
| rs2074936 | 7:39,379,325 | C/T | — | benign |
| rs151293651 | 7:39,379,334 | A/G | — | benign |
| rs779363584 | 7:39,379,361 | C/T | — | uncertain significance |
| rs753100110 | 7:39,379,362 | G/T | — | likely benign |
| rs747165081 | 7:39,379,367 | C/T | — | uncertain significance |
| rs773825714 | 7:39,379,400 | C/G | — | uncertain significance |
| rs80127606 | 7:39,379,431 | G/T | — | benign |
| rs150071017 | 7:39,379,463 | C/T | — | benign |
| rs373709968 | 7:39,379,486 | C/T | — | uncertain significance |
| rs771838930 | 7:39,379,502 | A/G | — | uncertain significance |
| rs760233765 | 7:39,379,519 | T/G | — | uncertain significance |
| rs765896780 | 7:39,379,520 | C/A | — | uncertain significance |
| rs200308619 | 7:39,379,533 | G/A | — | likely benign |
| rs144939808 | 7:39,379,547 | C/T | — | uncertain significance |
| rs771893971 | 7:39,379,572 | A/G | — | likely benign |
| rs140579551 | 7:39,379,589 | C/A | — | uncertain significance |
| rs201672868 | 7:39,379,598 | C/T | — | uncertain significance |
| rs60464047 | 7:39,418,538 | T/A | intron variant | — |
| rs148254024 | 7:39,446,234 | G/A | — | likely benign |
| rs376654925 | 7:39,446,247 | A/G | — | uncertain significance |
| rs778523090 | 7:39,446,319 | G/C | — | uncertain significance |
| rs2237402 | 7:39,449,768 | G/A | upstream gene variant | — |
| rs2302125 | 7:39,472,669 | C/T | — | benign |
| rs1583599022 | 7:39,472,702 | T/C | — | likely benign |
| rs2302123 | 7:39,472,708 | A/G | — | benign |
| rs368929654 | 7:39,472,732 | C/T | — | likely benign |
| rs1583599229 | 7:39,472,825 | C/T | — | likely benign |
| rs1316353626 | 7:39,472,829 | C/A | — | uncertain significance |
| rs749474648 | 7:39,472,842 | C/T | — | uncertain significance |
| rs2302122 | 7:39,472,846 | G/A | — | benign |
| rs1226845805 | 7:39,472,872 | C/T | — | uncertain significance |
| rs140161191 | 7:39,472,874 | G/A | — | likely benign |
| rs143607091 | 7:39,472,876 | C/G | — | likely benign |
| rs367970454 | 7:39,491,198 | C/T | — | uncertain significance |
| rs372113314 | 7:39,491,214 | T/C | — | uncertain significance |
| rs540890506 | 7:39,491,231 | C/T | — | uncertain significance |
| rs560299234 | 7:39,491,232 | G/A | — | uncertain significance |
| rs140486504 | 7:39,491,238 | C/G | — | uncertain significance |
| rs368375577 | 7:39,491,250 | C/T | — | uncertain significance |
| rs150437987 | 7:39,491,260 | C/T | — | benign |
| rs2535486043 | 7:39,500,185 | T/C | — | uncertain significance |
| rs761906616 | 7:39,500,197 | G/A | — | uncertain significance |
| rs767635644 | 7:39,500,223 | C/T | — | uncertain significance |
| rs2535486256 | 7:39,500,239 | G/A | — | uncertain significance |
| rs369179055 | 7:39,500,284 | G/T | — | uncertain significance |
| rs774680072 | 7:39,500,288 | C/T | — | likely benign |
| rs1367347775 | 7:39,500,290 | C/T | — | uncertain significance |
| rs369272246 | 7:39,500,321 | C/T | — | benign |
| rs755537871 | 7:39,503,804 | T/C | — | uncertain significance |
| rs148888580 | 7:39,503,845 | A/T | — | uncertain significance |
| rs958453474 | 7:39,503,918 | G/C | — | uncertain significance |
| rs2535494439 | 7:39,503,931 | C/G | — | uncertain significance |
| rs542853009 | 7:39,503,948 | G/A | — | uncertain significance |
| rs775692137 | 7:39,504,010 | G/A | — | uncertain significance |
| rs1789022196 | 7:39,504,055 | C/T | — | uncertain significance |
| rs145961110 | 7:39,504,094 | A/C | — | conflicting classifications of pathogenicity |
| rs759010617 | 7:39,504,107 | C/T | — | uncertain significance |
| rs7804851 | 7:39,504,124 | G/A | — | benign |
| rs570192579 | 7:39,504,226 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.