PGF

placental growth factor, the group of VEGF family

Basic information

Region (hg38): 14:74941834-74955626

Previous symbols: [ "PGFL" ]

Links

ENSG00000119630

∙ NCBI:5228 ∙ OMIM:601121 ∙ HGNC:8893 ∙ Uniprot:P49763 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PGF gene.

not_specified (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PGF gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002632.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			27 clinvar	1 clinvar		28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PGF	protein_coding	protein_coding	ENST00000555567	7	13951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.129	0.851	125735	0	3	125738	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0768	102	104	0.979	0.00000712	1084
Missense in Polyphen		15	27.81	0.53937		317
Synonymous	0.303	42	44.6	0.942	0.00000343	339
Loss of Function	2.00	3	9.73	0.308	4.14e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000947	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. Isoform PlGF-2 binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth. {ECO:0000269|PubMed:21215706}.;
Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Focal Adhesion;VEGFA-VEGFR2 Signaling Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Signal Transduction;VEGF ligand-receptor interactions;VEGF binds to VEGFR leading to receptor dimerization;Signaling by VEGF;Signaling by Receptor Tyrosine Kinases;VEGF and VEGFR signaling network;VEGFR1 specific signals (Consensus)

Recessive Scores

pRec: 0.0847

Intolerance Scores

loftool
rvis_EVS: -0.38
rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

pHI: 0.341
hipred: Y
hipred_score: 0.594
ghis: 0.612

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.631

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Pgf
Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); neoplasm; vision/eye phenotype; immune system phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);

Gene ontology

Biological process: angiogenesis;branching involved in ureteric bud morphogenesis;response to hypoxia;positive regulation of protein phosphorylation;positive regulation of endothelial cell proliferation;sprouting angiogenesis;signal transduction;cell-cell signaling;female pregnancy;positive regulation of cell population proliferation;regulation of signaling receptor activity;cell differentiation;animal organ regeneration;cellular response to hormone stimulus;vascular endothelial growth factor signaling pathway;response to drug;positive regulation of angiogenesis;vascular endothelial growth factor receptor signaling pathway;positive chemotaxis;induction of positive chemotaxis;positive regulation of cell division;regulation of morphogenesis of a branching structure;positive regulation of mast cell chemotaxis
Cellular component: extracellular region;extracellular space;membrane
Molecular function: vascular endothelial growth factor receptor binding;protein binding;growth factor activity;heparin binding;chemoattractant activity;protein homodimerization activity;protein heterodimerization activity