HOXB3: Homeobox B3 Gene
A key developmental transcription factor involved in hematopoiesis and oncogenesis
Gene Information Card
| Symbol | HOXB3 |
|---|---|
| Full Name | Homeobox B3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 3213 ncbi.nlm.nih.gov/gene/3213 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | P14651 |
| OMIM ID | 142964 |
| HGNC ID | 5113 |
| Aliases | HOX2G, HOX2.7, Hox-2.7 |
Description
HOXB3 is a member of the HOX gene family, which encodes transcription factors critical for embryonic development, particularly in the specification of the anterior-posterior body axis. HOXB3 is involved in hematopoiesis, neuronal development, and limb patterning. Dysregulation of HOXB3 has been implicated in acute myeloid leukemia (AML) and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | Overexpression of HOXB3 disrupts normal hematopoietic differentiation, promoting leukemogenesis. | COSMIC, ClinVar |
| Breast Cancer | HOXB3 is aberrantly expressed and may contribute to tumor progression. | COSMIC |
| Colorectal Cancer | HOXB3 methylation and expression changes are associated with poor prognosis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional effect |
| c.200C>T | nonsense | <0.1% | Predicted loss of function |
| c.350G>A | missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.200C>T) are predicted to cause premature truncation and loss of DNA-binding activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene regulation in development
• Wnt signaling pathway
• Retinoic acid signaling pathway
Protein Summary
The HOXB3 protein is a 434-amino-acid homeodomain-containing transcription factor. It binds to specific DNA sequences to regulate gene expression during development. The protein is predominantly nuclear and plays a role in hematopoietic stem cell maintenance and differentiation. Structural studies show a conserved homeodomain that mediates DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXB3 Knockout HEK293 Cell Line | EDJ-KQ4913 | Human | 3213 | Details Get a Quote |
| HOXB3 Knockout HCT 116 Cell Line | EDJ-KQ26529 | Human | 3213 | Details Get a Quote |
| HOXB3 Knockout A-549 Cell Line | EDJ-KQ27746 | Human | 3213 | Details Get a Quote |
| HOXB3 Knockout HeLa Cell Line | EDJ-KQ27747 | Human | 3213 | Details Get a Quote |
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