PTGR2

prostaglandin reductase 2

Basic information

Region (hg38): 14:73851831-73885726

Previous symbols: [ "ZADH1" ]

Links

ENSG00000140043 ∙ NCBI:145482 ∙ OMIM:608642 ∙ HGNC:20149 ∙ Uniprot:Q8N8N7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PTGR2 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001146154.2. 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			40	1		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGR2	protein_coding	protein_coding	ENST00000555661	9	34984

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.71e-7	0.754	125648	1	99	125748	0.000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.800	156	187	0.835	0.00000888	2304
Missense in Polyphen		50	59.055	0.84667		716
Synonymous	1.29	51	64.2	0.794	0.00000316	661
Loss of Function	1.31	13	19.2	0.677	9.61e-7	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000677	0.000604
Ashkenazi Jewish	0.00	0.00
East Asian	0.00115	0.00114
Finnish	0.000372	0.000370
European (Non-Finnish)	0.000439	0.000431
Middle Eastern	0.00115	0.00114
South Asian	0.000263	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto- PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity). {ECO:0000250, ECO:0000269|PubMed:19000823}.
• Pathway: Metabolism of lipids;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Arachidonic acid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.817
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.148
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.164

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptgr2

Gene ontology

• Biological process: prostaglandin metabolic process;oxidation-reduction process
• Cellular component: cytoplasm
• Molecular function: zinc ion binding;13-prostaglandin reductase activity;15-oxoprostaglandin 13-oxidase activity