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.

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.

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				1	1	2
missense			30	4	1	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	5	2

Variants in PTGIR

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

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

Position	Type	Phenotype	Significance	ClinVar
19-46621322-C-T			Benign (Apr 04, 2018)
19-46621334-G-A		not specified	Likely benign (Feb 24, 2025)
19-46621339-C-T		not specified	Uncertain significance (Jan 23, 2025)
19-46621369-C-T		not specified	Uncertain significance (Oct 16, 2024)
19-46621392-G-A		not specified	Uncertain significance (May 01, 2024)
19-46621402-C-T		not specified	Uncertain significance (Jun 07, 2022)
19-46621403-G-A			Likely benign (May 04, 2018)
19-46621462-C-T		not specified	Likely benign (Oct 19, 2024)
19-46621485-G-C			Benign (Apr 04, 2018)
19-46621492-C-T		not specified	Uncertain significance (May 27, 2022)
19-46621504-C-T		not specified	Likely benign (Jan 03, 2024)
19-46621524-C-G		not specified	Uncertain significance (May 18, 2023)
19-46621548-G-A		not specified	Uncertain significance (Feb 03, 2025)
19-46621554-C-T		not specified	Uncertain significance (Feb 18, 2025)
19-46621620-T-C		not specified	Uncertain significance (Feb 27, 2023)
19-46623480-G-C		not specified	Uncertain significance (Oct 04, 2022)
19-46623543-G-A		not specified	Uncertain significance (Jul 05, 2023)
19-46623546-C-T		not specified	Uncertain significance (Apr 12, 2023)
19-46623547-G-A		not specified	Uncertain significance (Oct 10, 2023)
19-46623616-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-46623688-C-T		not specified	Uncertain significance (Feb 05, 2024)
19-46623762-A-G		not specified	Uncertain significance (Aug 20, 2024)
19-46623772-C-A		not specified	Likely benign (Nov 10, 2024)
19-46623772-C-G		not specified	Uncertain significance (May 11, 2022)
19-46623823-A-C		not specified	Uncertain significance (Jul 06, 2021)

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