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PTGES2-DT

Chr 9

PTGES2 divergent transcript

Also known as: PTGES2-AS1

I cannot write a clinical gene summary for PTGES2-DT based on the provided information. The data only contains predicted subcellular localization and lacks essential clinical information including protein function, associated diseases, inheritance patterns, and pathogenic mechanisms required for a pediatric neurogenetics portal.

ResearchSummary from RefSeq
Clinical SummaryPTGES2-DT
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 1 VUS of 15 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PTGES2-DT?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

15 submitted variants in ClinVar

Classification Summary

Pathogenic14
VUS1
14
Pathogenic
1
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
Likely Pathogenic
0
VUS
1
Likely Benign
0
Benign
0
Total15

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PTGES2-DT · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →