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.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
6
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryBPY2B
📋
ClinVar Variants
6 unique Pathogenic / Likely Pathogenic of 6 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

6 submitted variants in ClinVar

Classification Summary

Pathogenic6
6
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total6

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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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