POU2F2
POU class 2 homeobox 2
Summary
The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76335122 | 19:42,594,894 | T/G | downstream gene variant | — |
| rs754325888 | 19:42,596,284 | G/A | — | uncertain significance |
| rs1469356128 | 19:42,596,296 | G/A | — | uncertain significance |
| rs774421999 | 19:42,596,332 | T/C | — | uncertain significance |
| rs775888023 | 19:42,596,344 | G/A | — | likely benign |
| rs758801700 | 19:42,596,395 | G/A | — | uncertain significance |
| rs1247416946 | 19:42,598,016 | G/A | — | uncertain significance |
| rs894299348 | 19:42,598,017 | G/A | — | uncertain significance |
| rs748277159 | 19:42,598,047 | C/T | — | uncertain significance |
| rs1247608827 | 19:42,599,843 | T/C | — | uncertain significance |
| rs2514613132 | 19:42,600,314 | C/T | — | uncertain significance |
| rs775709527 | 19:42,600,318 | G/T | — | uncertain significance |
| rs75543135 | 19:42,603,073 | T/C | — | — |
| rs144295200 | 19:42,603,716 | A/G | — | uncertain significance |
| rs141261459 | 19:42,603,876 | C/T | — | uncertain significance |
| rs2514673994 | 19:42,603,970 | T/C | — | uncertain significance |
| rs775377483 | 19:42,621,427 | A/G | — | uncertain significance |
| rs762031973 | 19:42,621,458 | C/T | — | likely benign |
| rs369000179 | 19:42,621,485 | G/T | — | uncertain significance |
| rs1007340967 | 19:42,621,494 | C/T | — | uncertain significance |
| rs142218312 | 19:42,622,548 | C/T | intron variant | — |
| rs373198280 | 19:42,626,295 | T/G | — | uncertain significance |
| rs751132870 | 19:42,626,298 | G/A | — | uncertain significance |
| rs568968230 | 19:42,626,699 | C/T | — | uncertain significance |
| rs143198325 | 19:42,632,711 | T/A | upstream gene variant | — |
| rs562494568 | 19:42,649,075 | T/C | — | — |
| rs8106871 | 19:42,651,600 | C/T | upstream gene variant | — |
| rs17342284 | 19:42,673,812 | C/T | intron variant | — |
| rs764771437 | 19:42,676,681 | C/T | — | — |
| rs147279898 | 19:42,679,043 | T/A | intron variant | — |
| rs116502431 | 19:42,692,817 | A/G | upstream gene variant | — |
| rs149135613 | 19:42,703,950 | G/A | synonymous variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.