PWRN2
Chr 15Prader-Willi region non-protein coding RNA 2
Also known as: NCRNA00199
315
ClinVar variants
304
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PWRN2
📋
ClinVar Variants
304 Pathogenic / Likely Pathogenic· 6 VUS of 315 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
315 submitted variants in ClinVar
Classification Summary
Pathogenic296
Likely Pathogenic8
VUS6
Likely Benign2
Benign1
296
Pathogenic
8
Likely Pathogenic
6
VUS
2
Likely Benign
1
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 296 |
Likely Pathogenic | — | — | — | — | 8 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
| Total | — | 313 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PWRN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
PRADER-WILLI REGION NONCODING RNA 2; PWRN2
MIM #611217 · *
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
SFARI Gene
Autism-gene association scoring (SFARI)
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Potential of Long Non-Coding RNAs in Age-Related Macular Degeneration.
Blasiak J et al.·Int J Mol Sci
2021Review
Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization.
Shao XY et al.·Biomed Environ Sci
2010Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
LncRNA PWRN2 promotes polycystic ovary syndrome progression via epigenetically reducing ATRX by recruiting LSD1.
Gong Z et al.·Reprod Biol
2023
Sulforaphane alleviates LPS-induced inflammatory injury in ARPE-19 cells by repressing the PWRN2/NF-kB pathway.
Song H et al.·Immunopharmacol Immunotoxicol
2022
Long non-coding RNA PWRN2 regulates cytotoxicity in an in vitro model of age-related macular degeneration.
Yu X et al.·Biochem Biophys Res Commun
2021Functional
LncRNA PWRN2 stimulates the proliferation and migration in papillary thyroid carcinoma through the miR-325/DDX5 axis.
Xin CH et al.·Eur Rev Med Pharmacol Sci
2020
Construction and analysis of a lncRNA (PWRN2)-mediated ceRNA network reveal its potential roles in oocyte nuclear maturation of patients with PCOS.
Huang X et al.·Reprod Biol Endocrinol
2018🔓 Open AccessCohort
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
SFARI Gene
Autism-gene association scoring (SFARI)
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)