HOXB9 Gene - Homeobox B9
Key regulator of embryonic development and oncogenesis
Gene Information Card
| Symbol | HOXB9 |
|---|---|
| Full Name | Homeobox B9 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 3219 ncbi.nlm.nih.gov/gene/3219 |
| Ensembl ID | ENSG00000109685 |
| UniProt ID | P17482 |
| OMIM ID | 142964 |
| HGNC ID | 5117 |
| Aliases | HOX-2.5, HOX2E, Hoxb-9 |
Description
HOXB9 (Homeobox B9) is a member of the HOX gene family, which encodes transcription factors critical for embryonic development, particularly in the patterning of the anterior-posterior axis. HOXB9 is located on chromosome 17q21.32 within the HOXB cluster. It plays roles in cell proliferation, differentiation, and migration. Aberrant expression of HOXB9 is implicated in several cancers, including breast, lung, and colorectal cancers, where it can promote tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of HOXB9 promotes epithelial-mesenchymal transition (EMT) and metastasis via Wnt/β-catenin signaling. | PMID: 20628086 |
| Non-Small Cell Lung Cancer | HOXB9 upregulation correlates with poor prognosis and enhances cell invasion through TGF-β pathway activation. | PMID: 25242046 |
| Colorectal Cancer | HOXB9 is frequently overexpressed and associated with tumor growth and metastasis via activation of the PI3K/AKT pathway. | PMID: 27323851 |
| Acute Myeloid Leukemia | HOXB9 is part of a HOX gene expression signature linked to leukemogenesis and poor outcome. | PMID: 15692071 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 6.7 | Low |
| Prostate | 5.1 | Low |
| Ovary | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast Cancer) | 15.2 | Overexpressed compared to normal breast tissue |
| A549 (Lung Cancer) | 18.7 | High expression; associated with invasive phenotype |
| HCT116 (Colorectal Cancer) | 10.5 | Moderate expression |
| K562 (Leukemia) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; effect uncertain |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Rare variant; functional impact unknown |
| c.200G>A (p.Arg67Gln) | Missense | <0.1% | Reported in COSMIC; no known pathogenicity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer is considered a gain-of-function event, but no specific activating mutations are documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• TGF-beta signaling pathway (KEGG: hsa04350)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• HOX gene regulation in development (Reactome: R-HSA-5619507)
Protein Summary
The HOXB9 protein is a 251-amino acid homeodomain-containing transcription factor. It binds DNA via a helix-turn-helix motif and regulates target genes involved in development and cell fate. The protein is predominantly nuclear and is expressed during embryogenesis in the posterior neural tube, mesoderm, and limb buds. In adults, expression is low in most tissues but is reactivated in various cancers, where it drives EMT, invasion, and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXB9 Knockout HEK293 Cell Line | EDJ-KQ4915 | Human | 3219 | Details Get a Quote |
| HOXB9 Knockout A-549 Cell Line | EDJ-KQ27748 | Human | 3219 | Details Get a Quote |
| HOXB9 Knockout HCT 116 Cell Line | EDJ-KQ27749 | Human | 3219 | Details Get a Quote |
| HOXB9 Knockout HeLa Cell Line | EDJ-KQ27750 | Human | 3219 | Details Get a Quote |
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