HOXA6 Gene - Homeobox A6
Key regulator of embryonic development and hematopoiesis
Gene Information Card
| Symbol | HOXA6 |
|---|---|
| Full Name | Homeobox A6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3203 ncbi.nlm.nih.gov/gene/3203 |
| Ensembl ID | ENSG00000106006 |
| UniProt ID | P31267 |
| OMIM ID | 142951 |
| HGNC ID | 5107 |
| Aliases | HOX1B, HOX1.2 |
Description
HOXA6 (Homeobox A6) is a protein-coding gene belonging to the homeobox family of transcription factors. It encodes a nuclear protein with a homeobox DNA-binding domain that regulates gene expression during embryonic morphogenesis, particularly in anterior-posterior patterning and hematopoiesis. HOXA6 is part of the HOXA cluster on chromosome 7 and plays roles in cell differentiation and proliferation. Aberrant expression is implicated in acute myeloid leukemia and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Dysregulated HOXA6 expression disrupts hematopoietic differentiation, promoting leukemogenesis | ClinVar, COSMIC |
| Myelodysplastic syndrome | Altered HOXA6 levels contribute to abnormal stem cell maintenance and dysplasia | ClinVar |
| Colorectal cancer | HOXA6 overexpression may drive tumor progression via transcriptional reprogramming | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 15.2 | Medium |
| Placenta | 10.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.4 | High expression in erythroleukemia line |
| HL-60 (promyelocytic) | 14.2 | Moderate expression |
| HeLa (cervical) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown functional impact |
| c.456_457insA | Frameshift | <0.1% | Predicted loss of function |
| p.Gln78* | Nonsense | <0.1% | Truncated protein, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants likely cause loss of DNA-binding or transactivation activity.
Gain of Function (GOF)
Not well documented; overexpression in leukemia may act as oncogenic gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX signaling in embryonic development
• Retinoic acid-mediated gene regulation
• Wnt signaling pathway (modulation)
Protein Summary
HOXA6 is a 232-amino acid transcription factor containing a highly conserved homeodomain that binds DNA as a monomer or heterodimer. It localizes to the nucleus and regulates target genes involved in cell identity and differentiation. Post-translational modifications include phosphorylation, which may modulate its activity. The protein is essential for normal hematopoiesis and limb development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXA6 Knockout HEK293 Cell Line | EDJ-KQ3247 | Human | 3203 | Details Get a Quote |
| HOXA6 Knockout A-549 Cell Line | EDJ-KQ24777 | Human | 3203 | Details Get a Quote |
| HOXA6 Knockout HCT 116 Cell Line | EDJ-KQ24778 | Human | 3203 | Details Get a Quote |
| HOXA6 Knockout HeLa Cell Line | EDJ-KQ53548 | Human | 3203 | Details Get a Quote |
