HOXC11
Homeobox C11: A key developmental transcription factor in limb and skeletal patterning
Gene Information Card
| Symbol | HOXC11 |
|---|---|
| Full Name | Homeobox C11 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3227 ncbi.nlm.nih.gov/gene/3227 |
| Ensembl ID | ENSG00000123388 |
| UniProt ID | O43248 |
| OMIM ID | 605427 |
| HGNC ID | 4988 |
| Aliases | HOX3H, HOXC-11 |
Description
HOXC11 is a member of the homeobox C cluster of transcription factors, playing a critical role in embryonic development, particularly in limb and skeletal patterning. It regulates gene expression by binding to DNA via its homeodomain and is involved in cell differentiation and positional identity along the anterior-posterior axis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Synpolydactyly | Altered HOXC11 expression disrupts digit patterning | OMIM #186200 |
| Breast cancer | HOXC11 overexpression linked to poor prognosis and metastasis | PMID: 23454724 |
| Prostate cancer | HOXC11 upregulation promotes androgen-independent growth | PMID: 24755413 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 5.2 | Low |
| Prostate | 3.8 | Low |
| Breast | 2.1 | Not detected |
| Skin | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.8 | Low expression |
| LNCaP (prostate cancer) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.701G>A (p.Arg234Gln) | Missense | <0.1% | Unknown functional impact |
| c.103C>T (p.Arg35*) | Nonsense | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg35*) lead to truncated protein and loss of DNA-binding activity.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as an oncogenic gain-of-function.
Dominant Negative (DN)
Not reported for HOXC11.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HOX gene developmental pathway
• Retinoic acid signaling pathway
Protein Summary
HOXC11 is a 304-amino acid homeodomain-containing transcription factor. It localizes to the nucleus and binds to TAAT core motifs in target gene promoters. Its expression is tightly regulated during development, and aberrant expression is associated with several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXC11 Knockout HEK293 Cell Line | EDJ-KQ4918 | Human | 3227 | Details Get a Quote |
| HOXC11 Knockout HeLa Cell Line | EDJ-KQ27754 | Human | 3227 | Details Get a Quote |
| HOXC11 Knockout A-549 Cell Line | EDJ-KQ62023 | Human | 3227 | Details Get a Quote |
| HOXC11 Knockout HCT 116 Cell Line | EDJ-KQ70501 | Human | 3227 | Details Get a Quote |
