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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HOXC4
homeobox C4
Chromosome 12 · 12q13.13
NCBI Gene: 3221Ensembl: ENSG00000198353.8HGNC: HGNC:5126UniProt: P09017
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingsequence-specific double-stranded DNA bindingneurodegenerative diseasehypertensionspinal fractureatrial fibrillation
✦AI Summary

HOXC4 is a sequence-specific transcription factor that regulates anterior-posterior pattern specification during development 1. In hematopoiesis, HOXC4 promotes expansion of human hematopoietic stem and progenitor cells, expanding CD34+ cells 3-6 fold ex vivo and improving in vivo engraftment 1. Mechanistically, HOXC4 regulates downstream genes including MEF2C, EZH2, and DBF4 that are critical for stem cell fate and expansion 1, and operates through NF-κB signaling and cell-cycle regulation to promote erythroid-megakaryocyte progenitor production 2. HOXC4 expression is developmentally regulated across lymphoid differentiation stages, present in CD34+/CD38low stem cells through mature lymphocytes 3, and correlates with keratinocyte differentiation in normal skin 4. In disease contexts, HOXC4 has significant clinical relevance: aberrant overexpression is associated with aggressive prostate cancer and predicts recurrence 5, and altered DNA hydroxymethylation of the HOXC4 promoter correlates with reduced sperm concentration in oligoasthenozoospermia 6. Early post-stroke HOXC4 expression is associated with stroke outcomes 7. These findings suggest HOXC4 functions in both normal hematopoietic expansion and aberrant cell proliferation in cancer.

Sources cited
1
HOXC4 expands human hematopoietic stem cells 3-6 fold ex vivo, improves engraftment, and regulates downstream genes including MEF2C, EZH2, DBF4 involved in stem cell expansion
PMID: 22298821
2
Altered DNA hydroxymethylation in the HOXC4 promoter is associated with reduced sperm concentration in oligoasthenozoospermia
PMID: 29430663
3
HOXC4 is aberrantly overexpressed in aggressive prostate cancer, predicts recurrence, and co-localizes with other prostate cancer-associated transcription factors
PMID: 32012197
4
HOXC4 is expressed in CD34+/CD38low stem cells and throughout lymphoid maturation stages from early progenitors to mature lymphocytes
PMID: 8634419
5
HOXC4 expression correlates with keratinocyte differentiation in normal skin and is downregulated in poorly differentiated epithelial neoplasms
PMID: 7915745
6
HOXC4 induction promotes hematopoietic progenitor production through NF-κB signaling and cell-cycle regulation
PMID: 35400027
7
Early post-stroke HOXC4 gene expression is associated with 90-day ischemic stroke outcomes
PMID: 36691064
8
HOXC4 overexpression in CD34+ cells increases proliferation of clonogenic and early progenitors, with 13.1-fold expansion of long-term culture-initiating cells
PMID: 10812247
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
hypertensionOpen Targets
0.11Weak
spinal fractureOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
essential hypertensionOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
isolated agammaglobulinemiaOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
cardiovascular diseaseOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
Increased blood pressureOpen Targets
0.07Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.07Suggestive
androgenetic alopeciaOpen Targets
0.07Suggestive
thoracomelic dysplasiaOpen Targets
0.07Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.07Suggestive
thoracic dysostosis, isolatedOpen Targets
0.07Suggestive
ICF syndromeOpen Targets
0.07Suggestive
femur fractureOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XRCC6Protein interaction97%HOXA5Protein interaction88%HOXA7Protein interaction88%HOXB5Protein interaction88%HOXD4Protein interaction84%PBX1Protein interaction81%
Tissue Expression6 tissues
Ovary
100%
Lung
8%
Heart
2%
Brain
2%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
HOXC4XRCC6HOXA5HOXA7HOXB5HOXD4PBX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P09017
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.37–0.86]
RankingsWhere HOXC4 stands among ~20K protein-coding genes
  • #8,564of 20,598
    Most Researched52
  • #7,571of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedHOXC4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4.
PMID: 22298821
Haematologica · 2012
1.00
2
DNA hydroxymethylation rate in the AChE and HoxC4 promoter associated with human sperm quality.
PMID: 29430663
Andrologia · 2018
0.90
3
Genome-wide analysis of HOXC4 and HOXC6 regulated genes and binding sites in prostate cancer cells.
PMID: 32012197
PLoS One · 2020
0.80
4
Expression of HOXC4, HOXC5, and HOXC6 in human lymphoid cell lines, leukemias, and benign and malignant lymphoid tissue.
PMID: 8634419
Blood · 1996
0.70
5
Expression of the homeobox gene HOXC4 in keratinocytes of normal skin and epithelial skin tumors is correlated with differentiation.
PMID: 7915745
J Invest Dermatol · 1994
0.60