TPRX2
Tetrapeptide Repeat Homeobox 2
Gene Information Card
| Symbol | TPRX2 |
|---|---|
| Full Name | Tetrapeptide Repeat Homeobox 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD9 |
| OMIM ID | 616747 |
| HGNC ID | 37279 |
| Aliases | TPRX2, FLJ45803 |
Description
TPRX2 (tetrapeptide repeat homeobox 2) is a protein-coding gene located on chromosome 19q13.33. It encodes a homeobox transcription factor involved in early embryonic development and cell differentiation. The protein contains a tetrapeptide repeat motif and a homeodomain, suggesting a role in DNA binding and transcriptional regulation. Expression is primarily observed in testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumors | Overexpression may contribute to tumorigenesis | COSMIC, literature |
| Lung adenocarcinoma | Altered expression in tumor samples | COSMIC |
| Breast cancer | Potential oncogenic role | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 1.2 | Low |
| Prostate | 0.8 | Low |
| Lung | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.6 | High expression |
| A549 (lung carcinoma) | 3.2 | Moderate |
| MCF7 (breast cancer) | 2.1 | Low |
| HEK293 (embryonic kidney) | 1.0 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301C>T (p.Arg101Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | 0.005% | Likely benign |
| c.123_124insA | Frameshift | Rare | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.123_124insA) predicted to cause premature truncation and loss of homeodomain function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription factor activity |
| • sequence-specific DNA binding | • nucleus |
| • regulation of transcription | • DNA-templated |
Pathways
• Homeobox transcription factor pathway
• Embryonic development
Protein Summary
TPRX2 encodes a 281-amino acid protein containing a homeodomain and tetrapeptide repeats. It localizes to the nucleus and binds DNA to regulate transcription. The protein is implicated in early development and is aberrantly expressed in some cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPRX2 Knockout HEK293 Cell Line | EDJ-KQ15899 | Human | 503627 | Details Get a Quote |
| TPRX2 Knockout A-549 Cell Line | EDJ-KQ49121 | Human | 503627 | Details Get a Quote |
| TPRX2 Knockout HCT 116 Cell Line | EDJ-KQ49122 | Human | 503627 | Details Get a Quote |
| TPRX2 Knockout HeLa Cell Line | EDJ-KQ49123 | Human | 503627 | Details Get a Quote |
