PTGIR

prostaglandin I2 receptor, the group of Prostaglandin receptors

Basic information

Region (hg38): 19:46618550-46625089

Links

ENSG00000160013

∙ NCBI:5739 ∙ OMIM:600022 ∙ HGNC:9602 ∙ Uniprot:P43119 ∙ 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 PTGIR gene.

not_specified (57 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGIR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000960.4. 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			1 clinvar	2 clinvar	1 clinvar	4
missense			52 clinvar	5 clinvar	1 clinvar	58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	7	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGIR	protein_coding	protein_coding	ENST00000291294	2	4651

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000888	0.582	119022	0	22	119044	0.0000924

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.390	219	236	0.928	0.0000159	2355
Missense in Polyphen		66	71.71	0.92037		778
Synonymous	-0.882	131	119	1.10	0.00000949	861
Loss of Function	0.466	5	6.26	0.799	2.71e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000296	0.0000296
Ashkenazi Jewish	0.000104	0.000103
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000207	0.000181
Middle Eastern	0.00	0.00
South Asian	0.0000345	0.0000330
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase.;
Pathway: Platelet activation - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;Intracellular Signalling Through Prostacyclin Receptor and Prostacyclin;Endothelin Pathways;Small Ligand GPCRs;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;eicosanoid metabolism;G alpha (s) signalling events;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Hemostasis;Thromboxane A2 receptor signaling;Prostacyclin signalling through prostacyclin receptor;Platelet homeostasis;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.225

Haploinsufficiency Scores

pHI: 0.160
hipred: N
hipred_score: 0.439
ghis: 0.423

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.633

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ptgir
Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism 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);

Zebrafish Information Network

Gene name: ptgir
Affected structure: heart
Phenotype tag: abnormal
Phenotype quality: edematous

Gene ontology

Biological process: inflammatory response;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell-cell signaling;negative regulation of platelet-derived growth factor receptor signaling pathway;response to lipopolysaccharide;negative regulation of smooth muscle cell proliferation
Cellular component: cytosol;plasma membrane;integral component of plasma membrane
Molecular function: G protein-coupled receptor activity;guanyl-nucleotide exchange factor activity