HOXB4 Homeobox B4 Gene
Key regulator of hematopoietic stem cell self-renewal and differentiation
Gene Information Card
| Symbol | HOXB4 |
|---|---|
| Full Name | Homeobox B4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 3214 ncbi.nlm.nih.gov/gene/3214 |
| Ensembl ID | ENSG00000196323 |
| UniProt ID | P17483 |
| OMIM ID | 142964 |
| HGNC ID | 5115 |
| Aliases | HOX-2.6, HOX2, HOX2F |
Description
HOXB4 is a member of the homeobox B gene cluster on chromosome 17. It encodes a transcription factor with a conserved homeodomain that regulates gene expression during development, particularly in hematopoiesis. HOXB4 is critical for the self-renewal of hematopoietic stem cells (HSCs) and is implicated in leukemogenesis when aberrantly expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Overexpression of HOXB4 disrupts normal HSC differentiation, promoting leukemic transformation. | COSMIC, ClinVar |
| Myelodysplastic syndromes (MDS) | Altered HOXB4 expression contributes to dysplastic hematopoiesis and progression to AML. | NCBI Gene, OMIM |
| Breast cancer | HOXB4 upregulation is associated with poor prognosis and may drive tumor cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Thymus | 6.7 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression; used in leukemia models |
| HEK293 (embryonic kidney) | 3.4 | Low baseline expression |
| MCF7 (breast cancer) | 9.8 | Moderate expression; linked to oncogenic role |
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; uncertain significance |
| c.214C>T (p.Arg72Trp) | missense | <0.1% | Reported in AML; functional impact unknown |
| c.328G>A (p.Glu110Lys) | missense | <0.1% | Found in COSMIC; likely gain-of-function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
c.328G>A (p.Glu110Lys) is suspected to enhance transcriptional activity, contributing to leukemogenesis.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX signaling pathway
• Hematopoietic stem cell self-renewal
• Wnt signaling pathway (crosstalk)
Protein Summary
HOXB4 is a 251-amino acid homeodomain-containing transcription factor. It binds DNA via the helix-turn-helix motif and regulates target genes involved in stem cell maintenance and differentiation. The protein is predominantly nuclear and is essential for HSC expansion. Dysregulation is linked to hematologic malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXB4 Knockout HEK293 Cell Line | EDJ-KQ4904 | Human | 3214 | Details Get a Quote |
| HOXB4 Knockout HCT 116 Cell Line | EDJ-KQ27728 | Human | 3214 | Details Get a Quote |
| HOXB4 Knockout HeLa Cell Line | EDJ-KQ27729 | Human | 3214 | Details Get a Quote |
| HOXB4 Knockout A-549 Cell Line | EDJ-KQ62019 | Human | 3214 | Details Get a Quote |
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