PTGER1

prostaglandin E receptor 1, the group of Prostaglandin receptors

Basic information

Region (hg38): 19:14472465-14475354

Links

ENSG00000160951 ∙ ∙ OMIM:176802 ∙ HGNC:9593 ∙ Uniprot:P34995 ∙ 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 PTGER1 gene.

• Inborn genetic diseases (24 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGER1 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in PTGER1

This is a list of pathogenic ClinVar variants found in the PTGER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14472600-G-C		not specified	Uncertain significance (Nov 17, 2023)
19-14472604-T-C		not specified	Uncertain significance (Feb 05, 2024)
19-14472640-C-T		not specified	Uncertain significance (May 24, 2023)
19-14472657-C-G		not specified	Uncertain significance (Mar 29, 2023)
19-14472666-G-C		not specified	Uncertain significance (Dec 06, 2021)
19-14472690-C-T		not specified	Uncertain significance (Jul 05, 2022)
19-14472714-A-G		not specified	Uncertain significance (Sep 27, 2022)
19-14472729-T-G		not specified	Uncertain significance (Nov 30, 2022)
19-14473470-G-A		not specified	Uncertain significance (Jan 17, 2024)
19-14473530-G-A		not specified	Uncertain significance (Aug 08, 2022)
19-14473596-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-14473605-C-T		not specified	Uncertain significance (Dec 22, 2023)
19-14473608-G-T		not specified	Uncertain significance (Jul 12, 2022)
19-14473612-G-C		not specified	Uncertain significance (Nov 17, 2023)
19-14473621-A-T		not specified	Uncertain significance (Mar 01, 2024)
19-14473711-C-T		not specified	Uncertain significance (Oct 06, 2022)
19-14473732-C-A		not specified	Uncertain significance (Aug 21, 2023)
19-14473741-G-T		not specified	Uncertain significance (Dec 18, 2023)
19-14473788-C-A		not specified	Uncertain significance (Nov 28, 2023)
19-14473840-C-G		not specified	Likely benign (Apr 07, 2023)
19-14473842-G-A		not specified	Uncertain significance (Dec 15, 2022)
19-14473861-C-T		not specified	Uncertain significance (May 31, 2022)
19-14473869-A-C		not specified	Uncertain significance (Jul 09, 2021)
19-14473881-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-14473899-C-T		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGER1	protein_coding	protein_coding	ENST00000292513	2	2897

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000973	0.602	122569	0	4	122573	0.0000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.746	141	168	0.838	0.0000111	2378
Missense in Polyphen		33	57.658	0.57234		919
Synonymous	0.488	81	86.8	0.933	0.00000645	990
Loss of Function	0.517	5	6.41	0.780	3.24e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000608	0.0000549
Finnish	0.00	0.00
European (Non-Finnish)	0.0000205	0.0000182
Middle Eastern	0.0000608	0.0000549
South Asian	0.0000374	0.0000329
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.
• Pathway: Calcium 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;phospholipase c-epsilon pathway;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;eicosanoid metabolism;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

• pHI: 0.0196
• hipred: N
• hipred_score: 0.459
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.158

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptger1
• 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); growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); neoplasm; 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype

Gene ontology

• Biological process: inflammatory response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;adenylate cyclase-activating dopamine receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;response to lipopolysaccharide;negative regulation of gastric emptying
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: prostaglandin E receptor activity;D1 dopamine receptor binding