PBX3
PBX homeobox 3
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in several processes, including embryonic organ development; eye development; and nervous system development. Predicted to act upstream of or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113025666 | 9:128,509,187 | C/A | — | — |
| rs370064871 | 9:128,509,754 | C/G | — | uncertain significance |
| rs1253685794 | 9:128,509,898 | A/G | — | uncertain significance |
| rs1836227956 | 9:128,509,904 | G/C | — | uncertain significance |
| rs2538470695 | 9:128,510,849 | A/G | — | uncertain significance |
| rs372548249 | 9:128,510,864 | C/G | — | uncertain significance |
| rs7040561 | 9:128,528,978 | T/A | intron variant | — |
| rs112725644 | 9:128,543,100 | C/T | — | — |
| rs13288002 | 9:128,593,470 | A/G | intron variant | — |
| rs10987006 | 9:128,651,539 | C/G | regulatory region variant | — |
| rs10987008 | 9:128,661,600 | T/C | — | — |
| rs10987017 | 9:128,668,715 | A/G | regulatory region variant | — |
| rs376106319 | 9:128,678,079 | C/T | — | uncertain significance |
| rs748021321 | 9:128,678,096 | G/A | — | uncertain significance |
| rs1841318061 | 9:128,678,103 | C/T | — | uncertain significance |
| rs2538857164 | 9:128,691,989 | C/T | — | uncertain significance |
| rs2538868926 | 9:128,697,840 | A/C | — | uncertain significance |
| rs756924554 | 9:128,724,435 | A/G | — | uncertain significance |
| rs934525961 | 9:128,724,459 | A/C | — | uncertain significance |
| rs1842445008 | 9:128,724,473 | G/A | — | uncertain significance |
| rs1588347162 | 9:128,725,284 | C/A | — | likely benign |
| rs747241535 | 9:128,725,304 | G/A | — | uncertain significance |
| rs2066159736 | 9:128,725,307 | A/G | — | uncertain significance |
| rs115431152 | 9:128,728,183 | A/G | — | uncertain significance |
| rs2538927457 | 9:128,728,186 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.