PRY2

Chr Y

PTPN13 like Y-linked 2

Also known as: PTPN13LY2

The PRY2 protein is expressed specifically in testis and is located in the nonrecombining portion of the Y chromosome within a palindromic region. No established pediatric neurogenetic diseases are currently associated with mutations in this gene based on the available information. The gene follows patrilineal inheritance as it is Y-chromosome linked.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
75
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryPRY2
📋
ClinVar Variants
75 unique Pathogenic / Likely Pathogenic· 12 VUS of 101 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PRY2?content-type=application/json&expand=1

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

101 submitted variants in ClinVar

Classification Summary

Pathogenic72
Likely Pathogenic3
VUS12
Likely Benign8
Benign6
72
Pathogenic
3
Likely Pathogenic
12
VUS
8
Likely Benign
6
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
72
Likely Pathogenic
3
VUS
12
Likely Benign
8
Benign
6
Total101

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PRY2 · 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
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC