PGF (Placental Growth Factor): Gene, Function, and Clinical Significance

A comprehensive overview of the PGF gene, its protein product, associated diseases, expression patterns, and mutations.

Gene Information Card

Symbol PGF
Full Name Placental Growth Factor
Gene Type protein coding
Chromosomal Location 14q24.3
NCBI Gene ID 5228 ncbi.nlm.nih.gov/gene/5228
Ensembl ID ENSG00000119630
UniProt ID P49763
OMIM ID 601121
HGNC ID 8893
Aliases PLGF, PLGF-1, PLGF-2, D12S1900, SHGC-10760

Description

The PGF gene encodes placental growth factor (PlGF), a member of the vascular endothelial growth factor (VEGF) family. PlGF is a key regulator of angiogenesis, particularly in pathological conditions. It binds to VEGFR-1 (Flt-1) and its co-receptors neuropilin-1 and -2, modulating VEGF-driven signaling. PGF is expressed in multiple tissues, with highest levels in the placenta, and is involved in endothelial cell proliferation, migration, and survival. Dysregulation of PGF is implicated in preeclampsia, cardiovascular diseases, and tumor angiogenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Preeclampsia Reduced placental PGF expression leads to low circulating PlGF levels, contributing to endothelial dysfunction and hypertension. ClinVar, OMIM
Coronary artery disease Polymorphisms in PGF are associated with altered risk; PlGF promotes atherosclerotic plaque neovascularization. OMIM, NCBI
Cancer (various) Overexpression of PGF in tumors enhances angiogenesis and metastasis; PlGF is a therapeutic target. COSMIC, NCBI
Retinopathy of prematurity Elevated PGF in oxygen-induced retinopathy contributes to pathological neovascularization. OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Placenta High High
Lung Low Low
Heart Low Low
Kidney Low Low
Liver Not detected Not detected
Cell Line Expression
Cell Line nTPM Notes
HUVEC (endothelial) Low Induced by hypoxia
BeWo (choriocarcinoma) High Placental origin
HeLa (cervical) Low Minimal expression
MCF7 (breast) Low Hormone-responsive
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs2268615 SNP ~30% (global) Intronic; associated with altered PGF levels in preeclampsia
rs2268614 SNP ~25% Intronic; may affect splicing
c.404C>T (p.Pro135Leu) Missense Rare Uncertain significance; not disease-causing per ClinVar
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in PGF are rare and not well characterized; reduced PGF expression is linked to preeclampsia, but no clear pathogenic variants are listed in ClinVar.

Gain of Function (GOF)

Gain-of-function is not typical; overexpression in cancer is often due to transcriptional upregulation, not mutations.

Dominant Negative (DN)

No dominant-negative mutations reported for PGF.

Gene Ontology (GO)

• growth factor activity • vascular endothelial growth factor receptor binding
• heparin binding • extracellular space
• angiogenesis • cell migration
• positive regulation of endothelial cell proliferation

Pathways

VEGF signaling pathway
Angiogenesis
HIF-1 signaling pathway

Protein Summary

Placental growth factor (PlGF) is a secreted glycosylated dimeric protein. It exists in multiple isoforms (PlGF-1, -2, -3, -4) due to alternative splicing. PlGF binds specifically to VEGFR-1 (Flt-1) and neuropilins, but not VEGFR-2. It acts as a potent angiogenic factor, especially under pathological conditions. PlGF is crucial for placental development and is implicated in endothelial cell survival and vascular remodeling. Its expression is induced by hypoxia via HIF-1α. Clinically, PlGF is a biomarker for preeclampsia and a therapeutic target in cancer and ocular neovascularization.

Related Products

Product name Cat.No. Species Gene ID
PGF Knockout HEK293 Cell Line EDJ-KQ724 Human 5228 Details Get a Quote
PGF Knockout A-549 Cell Line EDJ-KQ19349 Human 5228 Details Get a Quote
PGF Knockout HCT 116 Cell Line EDJ-KQ19350 Human 5228 Details Get a Quote
PGF Knockout HeLa Cell Line EDJ-KQ54128 Human 5228 Details Get a Quote
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