HPGDS

Chr 4

hematopoietic prostaglandin D synthase

Also known as: GSTS, GSTS1, GSTS1-1, PGD2, PGDS

Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]

0
Active trials
25
Pubs (1 yr)
19
P/LP submissions
0%
P/LP missense
1.63
LOEUF
Multiple*
Mechanism· predicted
Clinical SummaryHPGDS
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 unique Pathogenic / Likely Pathogenic· 21 VUS of 53 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.63LOEUF
pLI 0.000
Z-score 0.14
OE 0.95 (0.571.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.03Z-score
OE missense 1.28 (1.111.48)
135 obs / 105.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.95 (0.571.63)
00.351.4
Missense OE1.28 (1.111.48)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 9 / 9.5Missense obs/exp: 135 / 105.4Syn Z: -0.43
DN
0.7034th %ile
GOF
0.7028th %ile
LOF
0.2484th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

53 submitted variants in ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic3
VUS21
Likely Benign2
Benign5
16
Pathogenic
3
Likely Pathogenic
21
VUS
2
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
3
0
3
VUS
0
16
5
0
21
Likely Benign
0
1
1
0
2
Benign
0
3
0
2
5
Total02025247

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HPGDS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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