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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HOXB4
homeobox B4
Chromosome 17 · 17q21.32
NCBI Gene: 3214Ensembl: ENSG00000182742.6HGNC: HGNC:5115UniProt: P17483
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hematopoietic stem cell differentiationnucleoplasmpositive regulation of transcription by RNA polymerase IIpositive regulation of stem cell differentiationmigraine disorderAbnormality of the skeletal systemneoplasmthoracic aortic aneurysm
✦AI Summary

HOXB4 is a sequence-specific transcription factor that plays critical roles in hematopoietic stem cell (HSC) self-renewal and differentiation 1. The protein functions as a key regulator of the balance between HSC self-renewal and differentiation, with its expression levels determining therapeutic outcomes - proper dosage promotes beneficial HSC expansion while excessive levels can perturb normal lineage differentiation 2. HOXB4 achieves its effects by binding to specific DNA sequences and regulating downstream target genes, including METTL7B, which it transcriptionally suppresses 3. In disease contexts, HOXB4 frequently functions as a tumor suppressor. In lung adenocarcinoma, HOXB4 expression is reduced due to DNA hypermethylation, and its restoration inhibits cell proliferation, invasion, and migration while promoting apoptosis through regulation of the RAP1 signaling pathway and epithelial-mesenchymal transition 4. Similarly, in hepatocellular carcinoma, HOXB4 suppresses tumor progression and enhances immune infiltration by modulating the METTL7B/TKT axis and reducing PD-L1 expression 3. Clinical applications include ex vivo HSC expansion using TAT-HOXB4 protein for transplantation therapies 5, and HOXB4 can enhance mesenchymal stem cell proliferation without affecting their surface markers 6.

Sources cited
1
HOXB4 is a transcription factor that plays a key role in HSC self-renewal, proliferation, and differentiation
PMID: 17253940
2
HOXB4 expression levels control the balance between HSC self-renewal and differentiation in a dose-dependent manner
PMID: 15958692
3
HOXB4 functions as a tumor suppressor in hepatocellular carcinoma by binding to and suppressing METTL7B transcription
PMID: 40045399
4
HOXB4 is downregulated by hypermethylation in lung adenocarcinoma and inhibits tumor progression through RAP1 pathway regulation
PMID: 41234870
5
TAT-HOXB4 protein can be used for ex vivo HSC expansion with clinical applications
PMID: 23628061
6
HOXB4 promotes mesenchymal stem cell proliferation without affecting surface markers
PMID: 22739186
Disease Associationsⓘ20
migraine disorderOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
neoplasmOpen Targets
0.10Suggestive
thoracic aortic aneurysmOpen Targets
0.10Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.06Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.05Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUL4AProtein interaction100%HOXB7Protein interaction96%HOXB5Protein interaction91%HOXB6Protein interaction91%HOXC6Protein interaction86%HOXA5Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Lung
59%
Liver
10%
Heart
4%
Bone Marrow
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
HOXB4CUL4AHOXB7HOXB5HOXB6HOXC6HOXA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P17483
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.48–1.18]
RankingsWhere HOXB4 stands among ~20K protein-coding genes
  • #6,805of 20,598
    Most Researched69
  • #12,329of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedHOXB4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional analysis of HOXA10 and HOXB4 in human medulloblastoma cell lines.
PMID: 29039487
Int J Oncol · 2017
1.00
2
Methylation-regulated tumor suppressor gene
PMID: 41234870
Transl Cancer Res · 2025
0.90
3
Stem cell c-KIT and HOXB4 genes: critical roles and mechanisms in self-renewal, proliferation, and differentiation.
PMID: 17253940
Stem Cells Dev · 2006
0.80
4
HOXB4/METTL7B cascade mediates malignant phenotypes of hepatocellular carcinoma through TKT m6A modification.
PMID: 40045399
Biol Direct · 2025
0.70
5
[Ex vivo expansion of human hematopoietic stem/progenitor cells by TAT-HOXB4 homeoprotein and the prospect of its clinical use].
PMID: 23628061
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2013
0.60