BPY2C

Chr Y

basic charge Y-linked 2C

Also known as: VCY2C

The encoded protein interacts with ubiquitin protein ligase E3A and is involved in male germ cell development. Mutations cause male infertility. This gene is located on the Y chromosome and follows patrilineal inheritance from father to son.

ResearchSummary from RefSeq
Multiplemechanism

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.7327th %ile
GOF
0.7029th %ile
LOF
0.4136th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BPY2C · 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.

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