HOXB5
homeobox B5
Summary
This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2509345812 | 17:46,670,489 | T/G | — | uncertain significance |
| rs2509346575 | 17:46,670,621 | G/C | — | uncertain significance |
| rs1471434319 | 17:46,670,690 | C/A | — | uncertain significance |
| rs758472008 | 17:46,670,803 | T/C | — | uncertain significance |
| rs1319081640 | 17:46,670,832 | C/G | — | uncertain significance |
| rs752996896 | 17:46,670,966 | C/T | — | uncertain significance |
| rs779670773 | 17:46,671,011 | G/T | — | uncertain significance |
| rs6504411 | 17:46,672,154 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.