PTGR3

prostaglandin reductase 3

Basic information

Region (hg38): 18:75195113-75209139

Previous symbols: [ "ZADH2" ]

Links

ENSG00000180011 ∙ NCBI:284273 ∙ ∙ HGNC:28697 ∙ Uniprot:Q8N4Q0 ∙ 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 PTGR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGR3 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			32	3		35
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	34	3	0

Variants in PTGR3

This is a list of pathogenic ClinVar variants found in the PTGR3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-75201420-A-G		not specified	Uncertain significance (Jan 21, 2025)
18-75201429-T-C		not specified	Uncertain significance (Dec 27, 2023)
18-75201429-T-G		not specified	Uncertain significance (Nov 09, 2024)
18-75201462-C-T		not specified	Uncertain significance (Mar 06, 2025)
18-75201465-G-A		not specified	Uncertain significance (Mar 30, 2024)
18-75201478-T-C		not specified	Uncertain significance (Jul 30, 2024)
18-75201480-T-A		not specified	Uncertain significance (Sep 16, 2021)
18-75201487-A-G		not specified	Uncertain significance (Mar 03, 2025)
18-75201490-T-C		not specified	Likely benign (Mar 30, 2024)
18-75201498-C-A		not specified	Uncertain significance (Feb 14, 2023)
18-75201511-C-T		not specified	Uncertain significance (May 23, 2023)
18-75201551-G-C		not specified	Uncertain significance (Sep 15, 2021)
18-75201586-T-A		not specified	Uncertain significance (Jan 08, 2024)
18-75201589-C-T		not specified	Likely benign (Aug 01, 2022)
18-75201652-C-T		not specified	Likely benign (Feb 24, 2025)
18-75201687-G-A		not specified	Uncertain significance (Oct 05, 2022)
18-75201688-T-C		not specified	Uncertain significance (Mar 06, 2025)
18-75201705-G-A		not specified	Uncertain significance (Jul 20, 2022)
18-75201714-G-A		not specified	Uncertain significance (Dec 12, 2023)
18-75201718-G-A		not specified	Uncertain significance (Nov 23, 2024)
18-75201777-T-C		not specified	Uncertain significance (Jan 22, 2025)
18-75201816-T-C		not specified	Uncertain significance (Oct 09, 2024)
18-75201850-T-G		not specified	Uncertain significance (Aug 08, 2024)
18-75201886-T-C		not specified	Uncertain significance (Aug 21, 2024)
18-75201894-T-A		not specified	Uncertain significance (Jan 09, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGR3	protein_coding	protein_coding	ENST00000322342	2	14241

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00254	0.799	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.664	233	206	1.13	0.0000111	2383
Missense in Polyphen		67	65.187	1.0278		766
Synonymous	-0.659	93	85.3	1.09	0.00000502	831
Loss of Function	1.04	5	8.22	0.608	3.50e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.000359	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 efficienty towards 15-keto-PGE2-alpha. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation. {ECO:0000250|UniProtKB:Q8BGC4}.

Recessive Scores

• pRec: 0.0901

Intolerance Scores

• loftool: 0.676
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.36

Haploinsufficiency Scores

• pHI: 0.0678
• hipred: N
• hipred_score: 0.251
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.181

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zadh2

Gene ontology

• Biological process: prostaglandin metabolic process;biological_process;negative regulation of fat cell differentiation;oxidation-reduction process
• Cellular component: peroxisome
• Molecular function: molecular_function;zinc ion binding;13-prostaglandin reductase activity;15-oxoprostaglandin 13-oxidase activity