PROX2: Prospero Homeobox 2 Gene
A paired-type homeobox transcription factor involved in development and cancer
Gene Information Card
| Symbol | PROX2 |
|---|---|
| Full Name | Prospero Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 283571 ncbi.nlm.nih.gov/gene/283571 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96MZ6 |
| OMIM ID | 616449 |
| HGNC ID | 23655 |
| Aliases | PROX2A, PROX2B |
Description
PROX2 encodes a homeobox transcription factor belonging to the prospero family. It contains a paired-type homeodomain and is involved in cell fate determination, differentiation, and organ development. PROX2 is expressed in the nervous system, eye, and kidney, and its dysregulation has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PROX2 overexpression promotes cell proliferation and invasion | COSMIC, PubMed |
| Lung cancer | PROX2 upregulation associated with poor prognosis | COSMIC, PubMed |
| Colorectal cancer | PROX2 silencing reduces tumor growth in vitro | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Kidney | 3.8 | Low |
| Lung | 2.1 | Not detected |
| Breast | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.4 | Overexpressed |
| A549 (lung cancer) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.562G>A (p.Gly188Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.748_749insA (p.Thr250Asnfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in PROX2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PROX2.
View complete mutation data:
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • nucleus |
| • homeodomain |
Pathways
• Notch signaling pathway
• Cell differentiation
Protein Summary
PROX2 is a 506-amino acid protein with a homeodomain that binds DNA and regulates transcription. It is involved in neuronal and kidney development. In cancer, PROX2 can act as an oncogene by promoting cell cycle progression and inhibiting apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROX2 Knockout HEK293 Cell Line | EDJ-KQ14901 | Human | 283571 | Details Get a Quote |
| PROX2 Knockout HeLa Cell Line | EDJ-KQ59402 | Human | 283571 | Details Get a Quote |
| PROX2 Knockout A-549 Cell Line | EDJ-KQ67870 | Human | 283571 | Details Get a Quote |
| PROX2 Knockout HCT 116 Cell Line | EDJ-KQ76249 | Human | 283571 | Details Get a Quote |
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