PTGER2
prostaglandin E receptor 2, the group of Prostaglandin receptors
Basic information
Region (hg38): 14:52314304-52328598
Links
Phenotypes
GenCC
Source:
- asthma, nasal polyps, and aspirin intolerance (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | 0 | |||||
| missense | 17 | 19 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 17 | 2 | 0 |
Variants in PTGER2
This is a list of pathogenic ClinVar variants found in the PTGER2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-52314553-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
| 14-52314613-G-A | not specified | Uncertain significance (Jun 10, 2024) | ||
| 14-52314630-A-G | not specified | Uncertain significance (Dec 28, 2022) | ||
| 14-52314673-C-T | not specified | Uncertain significance (Oct 20, 2023) | ||
| 14-52314753-G-A | not specified | Uncertain significance (Feb 22, 2024) | ||
| 14-52314780-G-C | not specified | Uncertain significance (Oct 26, 2021) | ||
| 14-52314795-T-G | Benign/Likely benign (Aug 01, 2023) | |||
| 14-52314808-C-T | not specified | Uncertain significance (Jul 13, 2022) | ||
| 14-52314859-C-T | not specified | Uncertain significance (Mar 30, 2022) | ||
| 14-52314861-G-A | not specified | Uncertain significance (May 23, 2024) | ||
| 14-52314895-T-G | not specified | Uncertain significance (Aug 21, 2023) | ||
| 14-52314918-A-G | not specified | Uncertain significance (Jun 05, 2024) | ||
| 14-52314925-T-C | not specified | Uncertain significance (Feb 17, 2022) | ||
| 14-52314987-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 14-52315030-A-T | not specified | Uncertain significance (Dec 28, 2023) | ||
| 14-52315088-G-C | not specified | Uncertain significance (May 25, 2022) | ||
| 14-52315195-T-G | not specified | Uncertain significance (Jun 22, 2023) | ||
| 14-52315272-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
| 14-52315276-G-T | not specified | Uncertain significance (Jan 23, 2023) | ||
| 14-52315295-G-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 14-52315339-T-C | not specified | Uncertain significance (Apr 24, 2024) | ||
| 14-52327231-A-G | Likely benign (Jul 06, 2018) | |||
| 14-52327233-A-G | not specified | Uncertain significance (Dec 26, 2023) | ||
| 14-52327312-C-T | not specified | Uncertain significance (May 24, 2024) |
GnomAD
Source:
| 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 |
|---|---|---|---|---|---|---|
| 0.00749 | 0.931 | 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:
- 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
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
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