PTGES2

protein-coding

prostaglandin E synthase 2, the group of Glutaredoxin domain containing

Gene summary

The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]

Previous symbols:

C9orf15

MANE transcript

NM_025072.7

Inheritance

—

ClinVar variants

U:73B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr9:128,120,693-128,128,462

External References & Databases

Ensembl (ENSG00000148334)

Transcript & Mutation Effects

hg38 • Region Span ~7.8 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 PTGES2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 69

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_025072.7. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar			3
missense			66 clinvar	5 clinvar	1 clinvar	72
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	73	5	1	79

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 48 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025072.7	RefSeq	NP_079348.1	7	MANE Select
ENST00000338961.11	Ensembl	ENSP00000345341.6	7	MANE Select
NM_001256335.2	RefSeq	NP_001243264.1	4	Standard
NM_198938.3	RefSeq	NP_945176.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Arachidonic acid metabolism - Homo sapiens (human)
Eicosanoid Synthesis
Neutrophil degranulation
Metabolism of lipids
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

Biological Process

cyclooxygenase pathway
electron transport chain
neutrophil degranulation
cell redox homeostasis
positive regulation of transcription, DNA-templated

Molecular Function

DNA binding
protein binding
electron transfer activity
protein disulfide oxidoreductase activity
lyase activity

Cellular Component

Golgi membrane
extracellular region
nucleus
mitochondrion
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338961
Coding exons: 7
Length: 7770
Individuals with no LoFs: 125696
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125747
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.902	165	201	0.821	0.0000123	2374
Missense (PolyPhen)		66	85.978	0.76764		876
Synonymous	0.109	88	89.3	0.985	0.00000601	781
Loss of Function	0.676	15	18.1	0.829	0.00000104	189

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00024	0.00024	rare
South Asian	0.00029	0.00029	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2). {ECO:0000269|PubMed:12804604, ECO:0000269|PubMed:18198127}.;

Recessive Scores

pRec: 0.359

Intolerance Scores

LoFtool: 0.621
RVIS EVS: 0.17
RVIS percentile EVS: 65.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.994

Gene Damage Prediction

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