HOXC13 Gene - Homeobox C13
Key regulator of hair and nail development, associated with ectodermal dysplasias and leukemia
Gene Information Card
| Symbol | HOXC13 |
|---|---|
| Full Name | Homeobox C13 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3229 ncbi.nlm.nih.gov/gene/3229 |
| Ensembl ID | ENSG00000123364 |
| UniProt ID | P31276 |
| OMIM ID | 142976 |
| HGNC ID | 5028 |
| Aliases | HOX3G, HOX3, ECTD9 |
Description
HOXC13 is a member of the homeobox transcription factor family, specifically the HOXC cluster on chromosome 12. It plays a critical role in the development of hair follicles and nails by regulating keratin gene expression. Mutations in HOXC13 cause autosomal recessive ectodermal dysplasia 9 (ECTD9), characterized by hair and nail abnormalities. The gene is also implicated in certain leukemias through aberrant expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ectodermal dysplasia 9 (ECTD9) | Loss-of-function mutations disrupt hair and nail keratin regulation | OMIM #614931 |
| Acute myeloid leukemia (AML) | Overexpression of HOXC13 contributes to leukemogenesis via transcriptional dysregulation | COSMIC, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Hair follicle | 25.0 | High |
| Nail bed | 18.3 | High |
| Bone marrow | 3.2 | Low |
| Thyroid | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | High expression |
| K562 (leukemia) | 8.5 | Moderate expression |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.703C>T (p.Arg235*) | Nonsense | Rare | Loss of function; truncates protein |
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Loss of function; impaired DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, causing ECTD9.
Gain of Function (GOF)
Overexpression in AML suggests potential gain-of-function role in leukemia.
Dominant Negative (DN)
Not reported for HOXC13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene regulation during development
• Keratinocyte differentiation pathway
Protein Summary
HOXC13 is a 330-amino acid homeodomain-containing transcription factor that binds DNA via a helix-turn-helix motif. It regulates expression of hair and nail keratins (e.g., KRT81, KRT86) and is essential for terminal differentiation of hair shaft and nail plate. The protein localizes to the nucleus and interacts with other HOX factors and co-regulators.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXC13 Knockout HEK293 Cell Line | EDJ-KQ4920 | Human | 3229 | Details Get a Quote |
| HOXC13 Knockout HeLa Cell Line | EDJ-KQ26544 | Human | 3229 | Details Get a Quote |
| HOXC13 Knockout A-549 Cell Line | EDJ-KQ27758 | Human | 3229 | Details Get a Quote |
| HOXC13 Knockout HCT 116 Cell Line | EDJ-KQ27759 | Human | 3229 | Details Get a Quote |
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