BPY2B
Basic charge Y-linked 2B
Gene Information Card
| Symbol | BPY2B |
|---|---|
| Full Name | Basic charge Y-linked 2B |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.223 |
| NCBI Gene ID | 442867 ncbi.nlm.nih.gov/gene/442867 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | O14599 |
| OMIM ID | 400037 |
| HGNC ID | 1350 |
| Aliases | BPY2, VCY2B, VCY2 |
Description
BPY2B (basic charge Y-linked 2B) is a protein-coding gene located on the Y chromosome. It belongs to the BPY2 gene family and is expressed predominantly in the testis. The encoded protein is involved in spermatogenesis and male fertility. Deletions or mutations in this gene are associated with azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Deletion of BPY2B leads to loss of protein function, impairing spermatogenesis | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 0.8 | Not detected |
| Other tissues | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Sertoli cells) | 15.0 | High expression |
| LNCaP (prostate cancer) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect on protein function |
Mutation functional classification
Loss of Function (LOF)
Deletion of BPY2B is associated with loss of spermatogenesis.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The BPY2B protein is a basic charge Y-linked protein of unknown detailed function, but it is thought to play a role in spermatogenesis. It localizes to the nucleus and may interact with other proteins involved in male germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPY2B Knockout HEK293 Cell Line | EDJ-KQ12562 | Human | 442867 | Details Get a Quote |
| BPY2B Knockout HeLa Cell Line | EDJ-KQ60459 | Human | 442867 | Details Get a Quote |
| BPY2B Knockout A-549 Cell Line | EDJ-KQ68928 | Human | 442867 | Details Get a Quote |
| BPY2B Knockout HCT 116 Cell Line | EDJ-KQ77288 | Human | 442867 | Details Get a Quote |
