GeneBe

PTGER3

protein-coding

prostaglandin E receptor 3, the group of Prostaglandin receptors

Gene summary

The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

MANE transcript

NM_198719.2

Inheritance

—

ClinVar variants

U:35B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr1:70,852,353-71,047,816

External References & Databases

Ensembl (ENSG00000050628)NCBI Gene (5733)OMIM (176806)HGNC:9595GenCCUniProt (P43115)AlphaFoldClinVar (PTGER3)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~195.5 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PTGER3 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 29
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198719.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
33
clinvar
2
clinvar
 35
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total00352138
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_198719.2RefSeqNP_942012.14MANE Select
ENST00000306666.10EnsemblENSP00000302313.54MANE Select
NM_001126044.2RefSeqNP_001119516.14Standard
NM_198714.2RefSeqNP_942007.14Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
ptger3Danio rerio

Structure: dorsal longitudinal anastomotic vessel

Quality: hypoplastic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • 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)

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

Molecular Function

  • prostaglandin E receptor activity

Cellular Component

  • nuclear envelope
  • plasma membrane
  • integral component of plasma membrane
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000356595
Coding exons
4
Length
195456
Individuals with no LoFs
125741
Homozygous LoFs
0
Heterozygous LoFs
7
Defined
125748
p
0.0000278
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.312012610.7710.00001442659
Missense (PolyPhen)48114.330.419851132
Synonymous0.6161061140.9270.00000671885
Loss of Function2.63313.40.2246.19e-7135

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.0000630.000062rare
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec
0.242

Intolerance Scores

LoFtool
0.556
RVIS EVS
0.13
RVIS percentile EVS
63.2

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.397

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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