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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HOXD3
homeobox D3
Chromosome 2 · 2q31.1
NCBI Gene: 3232Ensembl: ENSG00000128652.13HGNC: HGNC:5137UniProt: P31249
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific double-stranded DNA bindingAbnormality of the skeletal systemovarian carcinomaovarian mucinous adenocarcinomaovarian serous carcinoma
✦AI Summary

HOXD3 is a sequence-specific transcription factor that plays critical roles in both development and cancer progression. As part of the developmental regulatory system, HOXD3 provides cells with positional identities along the anterior-posterior axis and regulates embryonic morphogenesis 1. In cancer contexts, HOXD3 functions as a metastasis-promoting gene through transcriptional regulation of invasion-related pathways. Overexpression of HOXD3 in lung cancer cells induces coordinate expression of metastasis-related genes, including loss of E-cadherin, upregulation of integrins (α3, β3, αvβ3), and increased production of matrix metalloproteinase-2 and urokinase-plasminogen activator, ultimately enhancing cell motility, invasion, and metastatic potential 1. In hepatocellular carcinoma, HOXD3 directly targets the VEGFR promoter region to increase VEGFR expression, promoting angiogenesis and metastasis 2. The gene is subject to epigenetic regulation, with DNA methylation patterns affecting its expression in renal cell carcinoma, where hypermethylation and low expression correlate with poor patient survival 3. HOXD3 has been identified as a potential biomarker and therapeutic target across multiple cancer types, including ovarian cancer where genetic variants near HOXD3 are associated with disease risk 45.

Sources cited
1
HOXD3 acts as a metastasis-promoting gene that induces expression of invasion-related genes including loss of E-cadherin and upregulation of integrins
PMID: 11477555
2
HOXD3 directly targets VEGFR promoter region and increases VEGFR expression in hepatocellular carcinoma
PMID: 29402992
3
HOXD3 methylation patterns affect gene expression in renal cell carcinoma with prognostic significance
PMID: 31777602
4
Genetic variants near HOXD3 are associated with ovarian cancer risk
PMID: 29262571
5
HOXD3 identified as candidate susceptibility gene in ovarian cancer risk loci
PMID: 38723632
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
ovarian carcinomaOpen Targets
0.39Weak
ovarian mucinous adenocarcinomaOpen Targets
0.34Weak
ovarian serous carcinomaOpen Targets
0.32Weak
motion sicknessOpen Targets
0.27Weak
high grade ovarian serous adenocarcinomaOpen Targets
0.26Weak
Benign Ovarian NeoplasmOpen Targets
0.24Weak
malignant epithelial tumor of ovaryOpen Targets
0.24Weak
leukemia, acute lymphoblastic, susceptibility to, 3Open Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
androgenetic alopeciaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
Klippel-Feil syndrome 3, autosomal dominantOpen Targets
0.07Suggestive
Posterior fusion of lumbosacral vertebrae - blepharoptosisOpen Targets
0.06Suggestive
posterior fusion of lumbosacral vertebrae-blepharoptosis syndromeOpen Targets
0.06Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXD10Protein interaction86%MTX2Protein interaction77%HOXD4Protein interaction70%HOXD9Protein interaction61%HOXD1Co-mentioned in literature30%HOXB9Shared pathway27%
Tissue Expression6 tissues
Ovary
100%
Lung
4%
Brain
3%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HOXD3HOXD10MTX2HOXD4HOXD9HOXD1HOXB9
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P31249
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.39Tolerant
Observed/Expected LoF0.40 [0.26–0.64]
RankingsWhere HOXD3 stands among ~20K protein-coding genes
  • #8,565of 20,598
    Most Researched52
  • #4,539of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedHOXD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
PMID: 35709926
Genomics · 2022
1.00
2
Transduction of HOXD3-antisense into human melanoma cells results in decreased invasive and motile activities.
PMID: 12405287
Clin Exp Metastasis · 2002
0.90
3
Ovarian cancer variant rs2072590 is associated with HOXD1 and HOXD3 gene expression.
PMID: 29262571
Oncotarget · 2017
0.80
4
A pan-cancer analysis of the role of HOXD1, HOXD3, and HOXD4 and validation in renal cell carcinoma.
PMID: 37827698
Aging (Albany NY) · 2023
0.70
5
Overexpression of homeobox gene HOXD3 induces coordinate expression of metastasis-related genes in human lung cancer cells.
PMID: 11477555
Int J Cancer · 2001
0.60