PKNOX2
PBX/knotted 1 homeobox 2
Summary
Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185971152 | 11:125,035,059 | C/G | regulatory region variant | — |
| rs617325 | 11:125,068,880 | A/C | — | — |
| rs681864 | 11:125,078,396 | C/G | intron variant | — |
| rs1426153 | 11:125,170,639 | A/G | regulatory region variant | — |
| rs750338 | 11:125,172,593 | A/C | — | — |
| rs10893366 | 11:125,178,403 | C/T | intron variant | — |
| rs12284594 | 11:125,179,853 | A/T | — | — |
| rs111615748 | 11:125,219,773 | A/G | regulatory region variant | — |
| rs371722377 | 11:125,237,775 | C/G | — | uncertain significance |
| rs1952280000 | 11:125,237,821 | T/C | — | uncertain significance |
| rs201213983 | 11:125,237,835 | A/C | — | uncertain significance |
| rs1952284220 | 11:125,237,860 | C/A | — | uncertain significance |
| rs369949499 | 11:125,237,869 | G/A | — | uncertain significance |
| rs12273350 | 11:125,241,046 | G/A | intron variant | — |
| rs2497349488 | 11:125,255,551 | A/C | — | uncertain significance |
| rs2497350243 | 11:125,255,611 | A/G | — | uncertain significance |
| rs2497458952 | 11:125,267,905 | G/T | — | uncertain significance |
| rs7112365 | 11:125,277,494 | C/T | intron variant | — |
| rs757845541 | 11:125,280,171 | T/A | — | uncertain significance |
| rs778849404 | 11:125,280,200 | G/A | — | uncertain significance |
| rs771037556 | 11:125,280,683 | T/G | — | uncertain significance |
| rs929232346 | 11:125,280,746 | G/A | — | uncertain significance |
| rs1269551424 | 11:125,281,729 | A/C | — | uncertain significance |
| rs200590076 | 11:125,300,013 | G/A | — | uncertain significance |
| rs749991817 | 11:125,301,062 | G/T | — | uncertain significance |
| rs954498292 | 11:125,301,067 | A/G | — | uncertain significance |
| rs1462993498 | 11:125,301,076 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.