PTGFR

prostaglandin F receptor, the group of Prostaglandin receptors

Basic information

Region (hg38): 1:78303883-78540701

Links

ENSG00000122420 ∙ NCBI:5737 ∙ OMIM:600563 ∙ HGNC:9600 ∙ Uniprot:P43088 ∙ 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 PTGFR gene.

• Inborn genetic diseases (5 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGFR gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			5	1	2	8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	2

Variants in PTGFR

This is a list of pathogenic ClinVar variants found in the PTGFR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-78492766-A-T			Benign (Aug 07, 2018)
1-78492772-T-C		not specified	Uncertain significance (Jul 09, 2021)
1-78492811-A-G		not specified	Uncertain significance (Nov 18, 2023)
1-78492878-C-G		not specified	Uncertain significance (Dec 19, 2023)
1-78493042-G-A		not specified	Uncertain significance (Mar 20, 2023)
1-78493140-C-T		not specified	Uncertain significance (Jul 12, 2022)
1-78493185-A-G		not specified	Uncertain significance (Dec 20, 2021)
1-78493192-A-T		Myoepithelial tumor	Uncertain significance (Nov 01, 2022)
1-78493247-G-T		not specified	Uncertain significance (Aug 22, 2023)
1-78493354-T-A		not specified	Uncertain significance (Jun 24, 2022)
1-78493396-T-C			Benign (Mar 29, 2018)
1-78493420-C-G		not specified	Uncertain significance (Oct 30, 2023)
1-78536619-A-G			Likely benign (Jul 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGFR	protein_coding	protein_coding	ENST00000370757	2	235867

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0661	0.921	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	149	195	0.765	0.00000977	2349
Missense in Polyphen		40	72.712	0.55011		899
Synonymous	0.0459	71	71.5	0.993	0.00000372	721
Loss of Function	2.17	4	12.1	0.329	7.63e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Isoforms 2 to 7 do not bind PGF2-alpha but are proposed to modulate signaling by participating in variant receptor complexes; heterodimers between isoform 1 and isoform 5 are proposed to be a receptor for prostamides including the synthetic analog bimatoprost. {ECO:0000250, ECO:0000269|PubMed:18587449}.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;GPCRs, Other;Small Ligand GPCRs;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;eicosanoid metabolism;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.199

Intolerance Scores

• loftool: 0.414
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.367
• hipred: Y
• hipred_score: 0.695
• ghis: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.227

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptgfr
• Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: inflammatory response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;parturition;positive regulation of cell population proliferation;positive regulation of gene expression;response to estradiol;response to lipopolysaccharide;calcium-mediated signaling using intracellular calcium source;negative regulation of apoptotic process;cellular response to prostaglandin D stimulus
• Cellular component: extracellular region;cytoplasm;plasma membrane;integral component of plasma membrane
• Molecular function: prostaglandin F receptor activity