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.

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 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
Displaying Records 1 To 4 Of 4 Records
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