PTGER3

prostaglandin E receptor 3, the group of Prostaglandin receptors

Basic information

Region (hg38): 1:70852352-71047816

Links

ENSG00000050628 ∙ NCBI:5733 ∙ OMIM:176806 ∙ HGNC:9595 ∙ Uniprot:P43115 ∙ 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 PTGER3 gene.

• Inborn genetic diseases (8 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGER3 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
missense			7	1		8
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	1

Variants in PTGER3

This is a list of pathogenic ClinVar variants found in the PTGER3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-70952952-G-C		not specified	Uncertain significance (Oct 05, 2023)
1-70952978-TG-T			Likely benign (Oct 30, 2019)
1-70953013-T-A		not specified	Uncertain significance (Aug 12, 2021)
1-70953052-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-71012314-C-A		not specified	Uncertain significance (Oct 03, 2022)
1-71012393-A-G		not specified	Uncertain significance (Sep 28, 2022)
1-71012411-T-C		not specified	Uncertain significance (Feb 14, 2023)
1-71012447-A-G		not specified	Uncertain significance (Dec 22, 2023)
1-71046758-C-T		not specified	Uncertain significance (Mar 04, 2024)
1-71046884-A-G		not specified	Uncertain significance (Jan 12, 2024)
1-71047088-A-G		not specified	Uncertain significance (Oct 10, 2023)
1-71047364-G-A		not specified	Uncertain significance (Nov 03, 2023)
1-71047457-G-C		not specified	Uncertain significance (Jun 12, 2023)
1-71047467-G-C			Benign (Jun 15, 2018)
1-71047514-T-G		not specified	Likely benign (Jun 24, 2022)
1-71047531-C-T		not specified	Uncertain significance (Nov 17, 2023)
1-71047555-C-T		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGER3	protein_coding	protein_coding	ENST00000356595	4	195456

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.372	0.626	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	201	261	0.771	0.0000144	2659
Missense in Polyphen		48	114.33	0.41985		1132
Synonymous	0.616	106	114	0.927	0.00000671	885
Loss of Function	2.63	3	13.4	0.224	6.19e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000626	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prostaglandin E2 (PGE2) (PubMed:8307176, PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium (PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to mucosal acidification, and thereby contributes to the protection of the mucosa against acid-induced ulceration. Not required for normal kidney function, normal urine volume and osmolality (By similarity). {ECO:0000250|UniProtKB:P30557, ECO:0000269|PubMed:7883006, ECO:0000269|PubMed:7981210, ECO:0000269|PubMed:8117308, ECO:0000269|PubMed:8135729, ECO:0000269|PubMed:8307176}.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;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 (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.242

Intolerance Scores

• loftool: 0.556
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.323
• hipred: Y
• hipred_score: 0.610
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.397

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptger3
• Phenotype: immune system phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); muscle phenotype; 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: ptger3
• Affected structure: dorsal longitudinal anastomotic vessel
• Phenotype tag: abnormal
• Phenotype quality: hypoplastic

Gene ontology

• Biological process: inflammatory response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell death;intestine smooth muscle contraction;positive regulation of fever generation;negative regulation of gastric acid secretion
• Cellular component: nuclear envelope;plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: prostaglandin E receptor activity