BPY2

Chr Y

basic charge Y-linked 2

Also known as: BPY2A, VCY2, VCY2A

The BPY2 protein is expressed specifically in testis and interacts with ubiquitin protein ligase E3A, functioning in male germ cell development. Mutations in this Y chromosome gene are associated with male infertility. This gene shows Y-linked inheritance, being passed from father to son.

Summary from RefSeq
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0
Active trials
1
Pubs (1 yr)
77
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryBPY2
📋
ClinVar Variants
77 unique Pathogenic / Likely Pathogenic· 13 VUS of 101 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

101 submitted variants in ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic2
VUS13
Likely Benign10
Benign1
75
Pathogenic
2
Likely Pathogenic
13
VUS
10
Likely Benign
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
75
Likely Pathogenic
2
VUS
13
Likely Benign
10
Benign
1
Total101

Counts from ClinVar esearch · Updated hourly

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Protein Context — Lollipop Plot

BPY2 · 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.

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Clinical Literature
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