GeneBe

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 (50 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.

EffectPLPVUSLBBSum
synonymous
0
missense
1
clinvar
49
clinvar
3
clinvar
 53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 1 49 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PTGER2protein_codingprotein_codingENST00000245457 214302
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.007490.9311257130351257480.000139
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3931932090.9240.000009562263
Missense in Polyphen5969.6710.84684839
Synonymous-1.2911094.11.170.00000428810
Loss of Function1.62510.70.4675.48e-798

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001450.000145
Ashkenazi Jewish0.000.00
East Asian0.0004350.000435
Finnish0.00009310.0000924
European (Non-Finnish)0.0001150.000114
Middle Eastern0.0004350.000435
South Asian0.0001450.000131
Other0.0004940.000489

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

Haploinsufficiency Scores

pHI
0.0933
hipred
Y
hipred_score
0.516
ghis
0.502

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ptger2
Phenotype
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); immune system phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; 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); reproductive system phenotype; neoplasm; endocrine/exocrine gland phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular 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
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