PTGDS

prostaglandin D2 synthase, the group of Lipocalins

Basic information

Region (hg38): 9:136975092-136981742

Links

ENSG00000107317NCBI:5730OMIM:176803HGNC:9592Uniprot:P41222AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGDS 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
1
clinvar
1
missense
5
clinvar
1
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
2
non coding
1
clinvar
1
Total 0 0 5 1 2

Variants in PTGDS

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

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

Position Type Phenotype Significance ClinVar
9-136977636-C-G not specified Uncertain significance (Sep 29, 2023)3220702
9-136978984-T-C Benign (Mar 29, 2018)768340
9-136978985-C-T Benign (Mar 29, 2018)768341
9-136979044-C-T not specified Uncertain significance (Nov 27, 2023)3220698
9-136979984-G-A not specified Likely benign (Jun 07, 2023)2558537
9-136979999-G-A not specified Uncertain significance (Nov 03, 2023)3220700
9-136980066-C-T Benign (Apr 03, 2018)785302
9-136980188-A-G not specified Uncertain significance (Jan 31, 2024)3220701
9-136980227-G-A not specified Likely benign (May 26, 2024)3311279
9-136980271-C-G not specified Uncertain significance (Jun 21, 2023)2592568
9-136980846-G-A Benign (Apr 09, 2018)781784

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PTGDSprotein_codingprotein_codingENST00000371625 67932
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.005090.9711256610291256900.000115
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5311011170.8620.000007241218
Missense in Polyphen2433.420.71812371
Synonymous0.3655154.40.9370.00000377377
Loss of Function1.98614.00.4308.68e-7127

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002040.000204
Ashkenazi Jewish0.000.00
East Asian0.0002740.000272
Finnish0.000.00
European (Non-Finnish)0.00009130.0000880
Middle Eastern0.0002740.000272
South Asian0.0002300.000229
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophopic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system. {ECO:0000269|PubMed:20667974, ECO:0000269|PubMed:9475419}.;
Pathway
Arachidonic acid metabolism - Homo sapiens (human);Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Eicosanoid Synthesis;Prostaglandin Synthesis and Regulation;Metabolism of lipids;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Prostaglandin Leukotriene metabolism;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism;C20 prostanoid biosynthesis;Prostaglandin formation from arachidonate (Consensus)

Recessive Scores

pRec
0.0980

Intolerance Scores

loftool
0.726
rvis_EVS
-0.14
rvis_percentile_EVS
42.88

Haploinsufficiency Scores

pHI
0.111
hipred
N
hipred_score
0.246
ghis
0.520

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.994

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ptgds
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); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; neoplasm; 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;

Gene ontology

Biological process
prostaglandin biosynthetic process;cyclooxygenase pathway;regulation of circadian sleep/wake cycle, sleep
Cellular component
extracellular region;extracellular space;endoplasmic reticulum membrane;rough endoplasmic reticulum;Golgi apparatus;nuclear membrane;perinuclear region of cytoplasm;extracellular exosome
Molecular function
prostaglandin-D synthase activity;retinoid binding;fatty acid binding;protein binding