BPY2C (Basic Charge, Y-Linked, 2C)
A Y-linked gene involved in male fertility and spermatogenesis, with implications in male infertility and potential cancer associations.
Gene Information Card
| Symbol | BPY2C |
|---|---|
| Full Name | Basic charge, Y-linked, 2C |
| Gene Type | protein-coding |
| Chromosomal Location | Yq11.223 |
| NCBI Gene ID | 442609 ncbi.nlm.nih.gov/gene/442609 |
| Ensembl ID | ENSG00000205937 |
| UniProt ID | O14599 |
| OMIM ID | 400033 |
| HGNC ID | 13521 |
| Aliases | BPY2, VCY2C, MGC126876 |
Description
BPY2C is a protein-coding gene located on the Y chromosome, specifically in the azoospermia factor c (AZFc) region. It encodes a protein that is predominantly expressed in the testis and is involved in spermatogenesis. The gene is part of a gene family that includes BPY2 and BPY2B, and it is thought to play a role in male germ cell development. Deletions or mutations in this region are associated with male infertility, particularly with severe oligozoospermia or azoospermia. Additionally, BPY2C has been studied for its potential involvement in certain cancers, although its exact role remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Deletions in the AZFc region, which includes BPY2C, lead to impaired spermatogenesis. | ClinVar and multiple studies (e.g., Repping et al., 2002) confirm association. |
| Spermatogenic failure | Loss of BPY2C copy number due to AZFc deletions disrupts germ cell development. | OMIM and literature evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM not provided) | High expression in testis (based on RNA-seq data from GTEx, but nTPM not specified) |
| Other tissues | Not available | Low or no expression in other tissues |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NT2/D1 (embryonal carcinoma) | Not available | Expressed in testicular germ cell tumor cell lines |
| Other cell lines | Not available | Limited data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| AZFc deletion (including BPY2C) | Copy number variation (deletion) | Common in infertile men (up to 10-15% of azoospermic men) | Loss of gene copies leading to spermatogenic failure |
| Single nucleotide variants | SNV | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Deletion of BPY2C (as part of AZFc) results in loss of protein function, contributing to male infertility.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not applicable; Y-linked gene with hemizygous expression.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (inferred from sequence similarity) | • Biological process: spermatogenesis |
| • Cellular component: cytoplasm (predicted) |
Pathways
• No specific pathways curated in KEGG or Reactome for BPY2C; involved in spermatogenesis pathway (general).
Protein Summary
The BPY2C protein is a basic protein of unknown function, but it is believed to be involved in spermatogenesis. It contains a coiled-coil domain and may interact with other proteins in the testis. Its expression is restricted to the testis, and it is localized in the cytoplasm of germ cells. The protein is part of the AZFc region, and its absence is linked to infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPY2C Knockout HEK293 Cell Line | EDJ-KQ12563 | Human | 442868 | Details Get a Quote |
| BPY2C Knockout HeLa Cell Line | EDJ-KQ60460 | Human | 442868 | Details Get a Quote |
| BPY2C Knockout A-549 Cell Line | EDJ-KQ68929 | Human | 442868 | Details Get a Quote |
| BPY2C Knockout HCT 116 Cell Line | EDJ-KQ77289 | Human | 442868 | Details Get a Quote |
