HOXB13: A Key Regulator in Prostate Development and Cancer
Homeobox B13 Gene - Genetic Variants and Disease Associations
Gene Information Card
| Symbol | HOXB13 |
|---|---|
| Full Name | Homeobox B13 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 10481 ncbi.nlm.nih.gov/gene/10481 |
| Ensembl ID | ENSG00000159184 |
| UniProt ID | Q92826 |
| OMIM ID | 604607 |
| HGNC ID | 5112 |
| Aliases | HOX2, HOX2D, Hoxb-13 |
Description
HOXB13 (Homeobox B13) is a protein-coding gene that belongs to the HOX family of transcription factors, which are critical for embryonic development and cell differentiation. HOXB13 is specifically involved in the development of the prostate, skin, and urogenital tract. It acts as a transcriptional repressor and plays a role in regulating cell proliferation and differentiation. Germline mutations in HOXB13, particularly the G84E variant, are associated with increased risk of hereditary prostate cancer. The gene is also implicated in breast and colorectal cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer, hereditary | Gain-of-function or altered transcriptional regulation due to G84E mutation | Ewing et al., N Engl J Med 2012; PMID: 22294035 |
| Breast cancer | Potential role in tumor suppression; altered expression observed | Alanee et al., Cancer Med 2019; PMID: 30968591 |
| Colorectal cancer | HOXB13 overexpression linked to poor prognosis | Jung et al., Cancer Res 2013; PMID: 23633484 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 45.2 | High |
| Skin | 12.8 | Medium |
| Uterus | 8.5 | Medium |
| Colon | 3.1 | Low |
| Breast | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 62.3 | High expression; androgen-responsive |
| PC-3 (prostate cancer) | 28.7 | Moderate expression |
| MCF-7 (breast cancer) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| G84E (rs138213197) | Missense | ~1.4% in European populations; up to 5% in prostate cancer families | Increased risk of prostate cancer; altered DNA-binding affinity |
| R217C | Missense | Rare | Uncertain significance; possibly benign |
| L144P | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; some variants may reduce transcriptional repression activity.
Gain of Function (GOF)
G84E is considered a gain-of-function mutation that alters target gene regulation, promoting prostate carcinogenesis.
Dominant Negative (DN)
Not reported for HOXB13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Prostate cancer pathway (KEGG: hsa05215)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Androgen receptor signaling pathway
Protein Summary
HOXB13 is a 284-amino acid transcription factor containing a homeobox DNA-binding domain. It localizes to the nucleus and functions primarily as a transcriptional repressor, regulating genes involved in prostate development and differentiation. The protein interacts with other HOX factors and androgen receptor signaling. The G84E mutation, located in the N-terminal domain, alters its interaction with DNA and co-regulators, leading to aberrant gene expression and increased prostate cancer risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOXB13 Knockout HEK293 Cell Line | EDJ-KQ3923 | Human | 10481 | Details Get a Quote |
| HOXB13 Knockout A-549 Cell Line | EDJ-KQ26157 | Human | 10481 | Details Get a Quote |
| HOXB13 Knockout HCT 116 Cell Line | EDJ-KQ26158 | Human | 10481 | Details Get a Quote |
| HOXB13 Knockout HeLa Cell Line | EDJ-KQ26159 | Human | 10481 | Details Get a Quote |
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