HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HOXD11
homeobox D11
Chromosome 2 · 2q31.1
NCBI Gene: 3237Ensembl: ENSG00000128713.14HGNC: HGNC:5134UniProt: P31277
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleoplasmbranching involved in ureteric bud morphogenesisRNA polymerase II cis-regulatory region sequence-specific DNA bindinggastric carcinomacolon adenocarcinomacolorectal adenocarcinomaprostate carcinoma
✦AI Summary

HOXD11 is a sequence-specific transcription factor that plays critical roles in developmental patterning and disease pathogenesis. During embryonic development, HOXD11 functions as part of a regulatory system that provides positional identity along the anterior-posterior axis, particularly in skeletal development 1. The gene is essential for proper formation of the axial and appendicular skeleton, with mutations causing vertebral transformations, carpal bone fusions, and reduced digit length 1. HOXD11 demonstrates functional equivalence with its paralogue HOXA11 in zeugopod development and can quantitatively compensate for HOXA11 loss 1. In adult tissues, HOXD11 expression varies significantly across different contexts. In endometrial tissue, HOXD11 shows cycle-dependent expression with decreased levels during the secretory phase, suggesting a role in endometrial proliferation rather than differentiation 2. Dysregulation of HOXD11 contributes to multiple pathological conditions. In osteoarthritis, HOXD11 downregulation promotes cartilage degradation through reduced SOX9 and COL2A1 expression and increased matrix metalloproteinases 3. Conversely, HOXD11 upregulation in penile squamous cell carcinoma promotes metastasis via the FN1/MMP2/MMP9 pathway and correlates with poor prognosis 4. HOXD11 is also involved in hematological malignancies through fusion with NUP98 in acute myeloid leukemia 5.

Sources cited
1
HOXD11 functions in skeletal development, causes specific skeletal defects when mutated, and can functionally compensate for HOXA11
PMID: 12217321
2
HOXD11 downregulation in osteoarthritis promotes cartilage degradation through altered expression of cartilage-specific factors and matrix metalloproteinases
PMID: 38308324
3
HOXD11 upregulation in penile squamous cell carcinoma promotes metastasis via FN1/MMP2/MMP9 pathway and predicts poor survival
PMID: 36151071
4
HOXD11 shows cycle-dependent expression in endometrium with decreased levels in secretory phase, suggesting role in proliferation
PMID: 12954737
5
HOXD11 is involved in acute myeloid leukemia through fusion with NUP98 gene
PMID: 11782354
Disease Associationsⓘ20
gastric carcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
lung carcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
bile duct carcinomaOpen Targets
0.28Weak
cecum adenocarcinomaOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.28Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
Gastric AdenomaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
skin carcinomaOpen Targets
0.28Weak
skin squamous cell carcinomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
superficial spreading melanomaOpen Targets
0.28Weak
thyroid carcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXD9Protein interaction75%HOXD10Protein interaction75%SHHProtein interaction74%HOXD13Protein interaction72%TMEM59LShared pathway33%HOXA11Shared pathway27%
Tissue Expression6 tissues
Brain
100%
Ovary
7%
Heart
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
HOXD11HOXD9HOXD10SHHHOXD13TMEM59LHOXA11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P31277
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.64–1.43]
RankingsWhere HOXD11 stands among ~20K protein-coding genes
  • #10,793of 20,598
    Most Researched36
  • #14,680of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedHOXD11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse.
PMID: 12217321
Dev Biol · 2002
1.00
2
Evaluation of HOTAIR, HOXD8, HOXD9, HOXD11 gene expression levels in Turkish patients with acute and chronic myeloid leukemia: A single center experience.
PMID: 39707783
Cell Mol Biol (Noisy-le-grand) · 2024
0.90
3
Inhibition of HOXD11 promotes cartilage degradation and induces osteoarthritis development.
PMID: 38308324
J Orthop Surg Res · 2024
0.80
4
miR-138-5p-mediated HOXD11 promotes cell invasion and metastasis by activating the FN1/MMP2/MMP9 pathway and predicts poor prognosis in penile squamous cell carcinoma.
PMID: 36151071
Cell Death Dis · 2022
0.70
5
Variation of Gene Expression and Methylation Profiling in Gingival and Tongue Cancers.
PMID: 41016725
Cancer Sci · 2025
0.60