PBX2
PBX homeobox 2
Summary
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757828985 | 6:32,154,384 | C/T | — | uncertain significance |
| rs143220345 | 6:32,154,416 | C/T | — | uncertain significance |
| rs138507194 | 6:32,154,639 | A/G | — | uncertain significance |
| rs374280631 | 6:32,154,670 | C/T | — | uncertain significance |
| rs41268932 | 6:32,154,711 | A/G | upstream gene variant | — |
| rs548074947 | 6:32,155,061 | C/A | — | uncertain significance |
| rs761609684 | 6:32,155,109 | C/T | — | uncertain significance |
| rs1196368040 | 6:32,155,498 | G/A | — | uncertain significance |
| rs204993 | 6:32,155,581 | A/G | upstream gene variant | — |
| rs2071292 | 6:32,155,948 | A/G | regulatory region variant | — |
| rs776911449 | 6:32,156,138 | C/T | — | uncertain significance |
| rs1448400116 | 6:32,156,143 | G/A | — | uncertain significance |
| rs1787240852 | 6:32,156,159 | C/G | — | uncertain significance |
| rs747512157 | 6:32,157,493 | C/T | — | uncertain significance |
| rs2481038639 | 6:32,157,498 | G/T | — | uncertain significance |
| rs2481038748 | 6:32,157,515 | T/C | — | uncertain significance |
| rs1325585462 | 6:32,157,572 | T/C | — | likely benign |
| rs775196874 | 6:32,157,604 | T/C | — | uncertain significance |
| rs1214343060 | 6:32,157,653 | C/A | — | uncertain significance |
| rs176095 | 6:32,158,319 | A/G | regulatory region variant | — |
| rs3134605 | 6:32,159,956 | T/C | synonymous variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.