POU2F3
POU class 2 homeobox 3
Summary
This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs567953174 | 11:120,117,563 | G/A | — | — |
| rs533042277 | 11:120,144,833 | G/A | — | — |
| rs372543314 | 11:120,169,022 | C/T | — | uncertain significance |
| rs2497081089 | 11:120,170,403 | T/A | — | uncertain significance |
| rs770103896 | 11:120,170,426 | G/A | — | uncertain significance |
| rs146425412 | 11:120,173,009 | C/T | — | uncertain significance |
| rs200455762 | 11:120,173,036 | G/A | — | likely benign |
| rs571140434 | 11:120,173,054 | A/G | — | uncertain significance |
| rs201145362 | 11:120,175,740 | C/T | — | uncertain significance |
| rs139093583 | 11:120,175,809 | T/C | — | uncertain significance |
| rs768868278 | 11:120,175,832 | G/A | — | uncertain significance |
| rs539370554 | 11:120,175,893 | A/G | — | uncertain significance |
| rs1049445639 | 11:120,178,220 | C/A | — | uncertain significance |
| rs149531239 | 11:120,178,311 | A/T | — | uncertain significance |
| rs755492289 | 11:120,180,136 | C/A | — | uncertain significance |
| rs1442439178 | 11:120,180,178 | G/C | — | uncertain significance |
| rs753152666 | 11:120,180,251 | C/G | — | uncertain significance |
| rs375346340 | 11:120,180,275 | C/T | — | uncertain significance |
| rs201319590 | 11:120,180,288 | C/G | — | uncertain significance |
| rs2497135963 | 11:120,186,122 | C/A | — | uncertain significance |
| rs750869748 | 11:120,187,997 | C/A | — | uncertain significance |
| rs1035829292 | 11:120,188,025 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.