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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HOXB5
homeobox B5
Chromosome 17 · 17q21.32
NCBI Gene: 3215Ensembl: ENSG00000120075.6HGNC: HGNC:5116UniProt: P09067
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingnucleoplasmfibrillar centerAbnormality of the skeletal systemhypertensionobesitycardiovascular disease
✦AI Summary

HOXB5 is a sequence-specific transcription factor that functions as a developmental regulator specifying cell identity along the anterior-posterior axis 1. During normal development, HOXB5 directly regulates neural crest specification genes (Sox9, Foxd3) and the RET gene, which is critical for enteric nervous system development 12. HOXB5 binds conserved sequences in the RET promoter and first intron, enhancing transcription through chr17 remodeling and histone H3K4 trimethylation 2. Mutations or dysregulation of HOXB5-mediated RET expression can cause Hirschsprung disease 2. HOXB5 also promotes human meiosis initiation when overexpressed in iPSCs alongside other factors 3. In cancer biology, HOXB5 predominantly functions as an oncogene with context-dependent dual roles 4. In gastric cancer, HOXB5 overexpression directly activates β-catenin transcription, promoting invasion and migration through Wnt signaling 5. Similarly, in hepatocellular carcinoma, HOXB5 transcriptionally activates EGFR, driving proliferation and migration; miR-200a-3p and miR-181-5p regulate HOXB5 expression 6. In castration-resistant prostate cancer, HOXB5 drives small cell carcinoma lineage plasticity 7. However, HOXB5 can suppress certain myeloid malignancies through immunological mechanisms 4. These findings establish HOXB5 as a multifunctional transcriptional regulator with significant clinical implications across developmental, reproductive, and neoplastic contexts.

Sources cited
1
HOXB5 regulates neural crest specification genes Sox9 and Foxd3, and RET transcription during enteric neuron development
PMID: 25703667
2
HOXB5 physically binds the RET gene promoter region and enhances RET transcription through chromatin remodeling; dysregulation causes Hirschsprung disease
PMID: 24794774
3
HOXB5 is overexpressed in gastric cancer and directly activates β-catenin transcription, promoting invasion and migration
PMID: 26467157
4
HOXB5 is upregulated in hepatocellular carcinoma and directly activates EGFR transcription; miR-200a-3p and miR-181-5p regulate HOXB5
PMID: 35847904
5
HOXB5 drives lineage plasticity and small cell carcinoma development in castration-resistant prostate cancer
PMID: 33664492
6
HOXB5 overexpression promotes meiosis initiation from human iPSCs
PMID: 40815662
7
HOXB5 displays context-dependent dual functions as oncogene or tumor suppressor across multiple cancer types
PMID: 41495767
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.21Weak
hypertensionOpen Targets
0.20Weak
obesityOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.13Weak
Increased blood pressureOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
overnutritionOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
spondyloepiphyseal dysplasia tarda, Kohn typeOpen Targets
0.06Suggestive
systemic lupus erythematosusOpen Targets
0.06Suggestive
esophageal cancerOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXB7Protein interaction96%HOXD4Protein interaction94%HOXA5Protein interaction91%HOXA7Protein interaction91%HOXB4Protein interaction91%HOXB3Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Lung
6%
Liver
1%
Bone Marrow
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
HOXB5HOXB7HOXD4HOXA5HOXA7HOXB4HOXB3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P09067
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.53 [0.32–0.92]
RankingsWhere HOXB5 stands among ~20K protein-coding genes
  • #7,974of 20,598
    Most Researched57
  • #8,461of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedHOXB5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Derivation of enteric neuron lineages from human pluripotent stem cells.
PMID: 30911172
Nat Protoc · 2019
1.00
2
Transcriptional mediators of treatment resistance in lethal prostate cancer.
PMID: 33664492
Nat Med · 2021
0.90
3
HOXB5 induces invasion and migration through direct transcriptional up-regulation of β-catenin in human gastric carcinoma.
PMID: 26467157
Biochem J · 2015
0.80
4
Roles of Hoxb5 in the development of vagal and trunk neural crest cells.
PMID: 25703667
Dev Growth Differ · 2015
0.70
5
HOXB5 binds to multi-species conserved sequence (MCS+9.7) of RET gene and regulates RET expression.
PMID: 24794774
Int J Biochem Cell Biol · 2014
0.60