BPY2B

Chr Y

basic charge Y-linked 2B

Also known as: VCY2B

The BPY2B 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 follows Y-linked inheritance, being passed from father to son.

ResearchSummary from RefSeq
Clinical SummaryBPY2B
📋
ClinVar Variants
80 unique Pathogenic / Likely Pathogenic· 21 VUS of 111 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

111 submitted variants in ClinVar

Classification Summary

Pathogenic75
Likely Pathogenic5
VUS21
Likely Benign7
Benign3
75
Pathogenic
5
Likely Pathogenic
21
VUS
7
Likely Benign
3
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
75
Likely Pathogenic
5
VUS
21
Likely Benign
7
Benign
3
Total111

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BPY2B · 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 →
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

No open access results found