PTGER2

prostaglandin E receptor 2, the group of Prostaglandin receptors

Basic information

Region (hg38): 14:52314305-52329822

Links

ENSG00000125384 ∙ NCBI:5732 ∙ OMIM:176804 ∙ HGNC:9594 ∙ Uniprot:P43116 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• asthma, nasal polyps, and aspirin intolerance (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PTGER2 gene.

• not_specified (51 variants)
• not_provided (2 variants)
• Thyroid_hormone_resistance,_generalized,_autosomal_dominant (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGER2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000956.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense		1	50	3		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	50	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGER2	protein_coding	protein_coding	ENST00000245457	2	14302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.393	193	209	0.924	0.00000956	2263
Missense in Polyphen		59	69.671	0.84684		839
Synonymous	-1.29	110	94.1	1.17	0.00000428	810
Loss of Function	1.62	5	10.7	0.467	5.48e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.0000931	0.0000924
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000435	0.000435
South Asian	0.000145	0.000131
Other	0.000494	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Renin secretion - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;Small Ligand GPCRs;Ovarian Infertility Genes;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;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.177

Intolerance Scores

• loftool: 0.363
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.91

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.204

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: ptger2a
• Affected structure: hematopoietic stem cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

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;response to lipopolysaccharide;response to progesterone;regulation of cell population proliferation;cellular response to prostaglandin E stimulus;positive regulation of gastric mucosal blood circulation
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: prostaglandin E receptor activity