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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HOXC5
homeobox C5
Chromosome 12 · 12q13.13
NCBI Gene: 3222Ensembl: ENSG00000172789.4HGNC: HGNC:5127UniProt: Q00444
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseAbnormality of the skeletal systemhypertensionosteoporosis
✦AI Summary

HOXC5 is a sequence-specific transcription factor that functions as a developmental regulator providing cells with positional identity along the anterior-posterior axis 1. Beyond its classical embryonic role, HOXC5 regulates spermatogonial stem cell fate through the WNT/β-catenin signaling pathway, where it promotes proliferation and suppresses apoptosis when activated by the deubiquitinase USP11 2. HOXC5 also functions as a tumor suppressor by repressing telomerase (hTERT) expression during cellular differentiation through both transcriptional mechanisms and via the miR-615-3p microRNA encoded within its intron, creating a feed-forward repression loop that coordinates differentiation 3. Pathologically, HOXC5 exhibits aberrant expression in multiple malignancies. It is aberrantly activated in cervical cancer cells and non-Hodgkin's lymphomas, particularly anaplastic large-cell lymphomas and mucosa-associated lymphomas, where it is absent in normal lymphoid tissues 4 5 6 7. In myeloid leukemias, HOXC5 shows restricted expression in early differentiation stages, suggesting lineage-specific roles 8. During normal skin development, HOXC5 marks early fetal fibroblasts (7-8 weeks) that transition toward papillary and follicular lineages 1. These findings suggest HOXC5 deregulation contributes to malignant transformation and male infertility through disrupted developmental signaling pathways.

Sources cited
1
USP11 regulates HOXC5-mediated proliferation and apoptosis of spermatogonial stem cells via canonical WNT/β-catenin signaling pathway
PMID: 38722330
2
HOXC5 and miR-615-3p coordinately repress hTERT expression during cellular differentiation as a tumor suppression mechanism
PMID: 29311615
3
HOXC5 expression is aberrantly turned on in cervical cancer cells compared to normal keratinocytes
PMID: 10208853
4
HOXC5 is expressed in neoplastic lymphoid cell lines and non-Hodgkin's lymphomas but not in normal lymphoid cells
PMID: 8634419
5
HOXC5 shows preferential expression in primary cutaneous anaplastic T-cell lymphomas and marginal zone B-cell lymphomas
PMID: 9354682
6
HOXC5 is strongly expressed in primary cutaneous anaplastic large-cell lymphomas but absent in reactive lymphoid infiltrates
PMID: 9327740
7
HOXC5 is expressed in restricted acute myeloid leukemia subtypes (granulocytic, early monocytic, and early erythroid lineages)
PMID: 9823947
8
HOXC5 marks early abundant fetal fibroblasts at 7-8 weeks of gestation that transition toward papillary and follicular differentiation
PMID: 39880186
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.22Weak
hypertensionOpen Targets
0.19Weak
osteoporosisOpen Targets
0.16Weak
alcohol drinkingOpen Targets
0.16Weak
hypertensive heart diseaseOpen Targets
0.14Weak
breast cancerOpen Targets
0.14Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
vascular diseaseOpen Targets
0.14Weak
cardiovascular diseaseOpen Targets
0.13Weak
Ischemic strokeOpen Targets
0.13Weak
smoking behaviorOpen Targets
0.13Weak
goutOpen Targets
0.12Weak
Increased blood pressureOpen Targets
0.10Suggestive
bone diseaseOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.09Suggestive
strokeOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HES4Shared pathway100%HOXD4Protein interaction94%HOXC6Protein interaction92%HOXA6Protein interaction90%HOXB6Protein interaction90%HOXA5Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Lung
2%
Brain
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HOXC5HES4HOXD4HOXC6HOXA6HOXB6HOXA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q00444
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.69–1.45]
RankingsWhere HOXC5 stands among ~20K protein-coding genes
  • #13,204of 20,598
    Most Researched24
  • #14,819of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedHOXC5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
USP11 regulates proliferation and apoptosis of human spermatogonial stem cells via HOXC5-mediated canonical WNT/β-catenin signaling pathway.
PMID: 38722330
Cell Mol Life Sci · 2024
1.00
2
HOXC5 and HOXC8 expression are selectively turned on in human cervical cancer cells compared to normal keratinocytes.
PMID: 10208853
Biochem Biophys Res Commun · 1999
0.90
3
Expression of HOXC4, HOXC5, and HOXC6 in human lymphoid cell lines, leukemias, and benign and malignant lymphoid tissue.
PMID: 8634419
Blood · 1996
0.80
4
HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis.
PMID: 29311615
Nat Commun · 2018
0.70
5
Differentiation and cell-type-restricted expression of HOXC4, HOXC5 and HOXC6 in myeloid leukemias and normal myeloid cells.
PMID: 9823947
Leukemia · 1998
0.60