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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HOXC13
homeobox C13
Chromosome 12 Β· 12q13.13
NCBI Gene: 3229Ensembl: ENSG00000123364.5HGNC: HGNC:5125UniProt: P31276
58PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription cis-regulatory region bindingDNA-binding transcription factor activityprotein bindingDNA-binding transcription factor bindingpure hair and nail ectodermal dysplasiahair colorcolorectal adenocarcinomaalopecia
✦AI Summary

HOXC13 is a homeobox transcription factor that primarily regulates hair follicle differentiation and keratin gene expression. The protein binds directly to hair keratin gene promoters through a specific DNA binding consensus sequence TT(A/T)ATNPuPu, controlling the expression of structural proteins essential for normal hair morphology 1. HOXC13 is immunologically detected in the lower hair-forming compartment of human hair follicles, where it activates hair keratin promoters during early trichocyte differentiation 1. Beyond hair biology, HOXC13 demonstrates oncogenic potential in multiple contexts. The gene forms pathogenic fusion proteins with NUP98 in acute myeloid leukemia, where the NUP98/HOXC13 chimera contributes to leukemogenesis 2. In viral infections, HOXC13 facilitates human papillomavirus genome maintenance by binding to viral regulatory regions and upregulating E1 helicase gene expression, thereby supporting persistent HPV infection 3. Recent studies also implicate HOXC13 in breast cancer immunotherapy resistance, where it appears to regulate the cGAS-STING pathway and is controlled by miR-26a-5p 4. Disease associations include ectodermal dysplasias affecting hair and nail development, consistent with its primary role in epithelial differentiation. The gene's involvement in both developmental processes and cancer highlights its dual significance in normal tissue morphogenesis and pathological conditions.

Sources cited
1
HOXC13 directly binds to hair keratin gene promoters and activates their expression during hair follicle differentiation
PMID: 11714694
2
NUP98/HOXC13 fusion protein formation in acute myeloid leukemia with pathogenic significance
PMID: 12461755
3
HOXC13 upregulates HPV E1 gene expression and contributes to viral genome maintenance
PMID: 31642514
4
HOXC13 involvement in breast cancer immunotherapy resistance and regulation by miR-26a-5p
PMID: 40861477
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
pure hair and nail ectodermal dysplasiaOpen Targets
0.73Strong
hair colorOpen Targets
0.42Moderate
colorectal adenocarcinomaOpen Targets
0.37Weak
alopeciaOpen Targets
0.30Weak
melanomaOpen Targets
0.29Weak
oral squamous cell carcinomaOpen Targets
0.29Weak
head and neck squamous cell carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
skin basal cell carcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.28Weak
breast carcinomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
thyroid carcinomaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
Ectodermal dysplasia 9, hair/nail typeUniProt
Pathogenic Variants5
NM_017410.3(HOXC13):c.131dup (p.Gly45fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 45
NM_017410.3(HOXC13):c.861_862insACTTGCGGCTAGCAAGTTCATCACCAAA (p.Glu288delinsThrCysGlyTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 288
NM_017410.3(HOXC13):c.355del (p.Leu119fs)Pathogenic
Ectodermal dysplasia 9, hair/nail type
β˜†β˜†β˜†β˜†2013β†’ Residue 119
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)Pathogenic
Ectodermal dysplasia 9, hair/nail type
β˜†β˜†β˜†β˜†2012β†’ Residue 130
NM_017410.2(HOXC13):c.-24497_736+2389delPathogenic
Ectodermal dysplasia 9, hair/nail type
β˜†β˜†β˜†β˜†2012
View on ClinVar β†—
Related Genes
CST6Shared pathway100%GSC2Shared pathway100%LBX1Shared pathway100%SCML2Shared pathway100%FOXN1Protein interaction79%HOXC10Protein interaction71%
Tissue Expression6 tissues
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HOXC13CST6GSC2LBX1SCML2FOXN1HOXC10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P31276
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.49 [0.30–0.83]
RankingsWhere HOXC13 stands among ~20K protein-coding genes
  • #7,877of 20,598
    Most Researched58
  • #3,568of 5,498
    Most Pathogenic Variants5
  • #7,058of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedHOXC13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The diagnostic and prognostic significance of HOXC13-AS and its molecular regulatory mechanism in human cancer.
PMID: 39981436
Front Mol Biosci Β· 2025
1.00
2
Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).
PMID: 12461755
Genes Chromosomes Cancer Β· 2003
0.90
3
Exploring the Immunogenicity of Noncanonical HLA-I Tumor Ligands Identified through Proteogenomics.
PMID: 36749875
Clin Cancer Res Β· 2023
0.80
4
The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance.
PMID: 31642514
FEBS Lett Β· 2020
0.70
5
[Hoxc13 and the development of hair follicle].
PMID: 20650845
Yi Chuan Β· 2010
0.60