BPY2 (Basic Charge Y-Linked 2)
Y-chromosomal gene implicated in spermatogenesis and male infertility
Gene Information Card
| Symbol | BPY2 |
|---|---|
| Full Name | Basic Charge Y-Linked 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | Yq11.223 (AZFb region) |
| NCBI Gene ID | 9083 ncbi.nlm.nih.gov/gene/9083 |
| Ensembl ID | ENSG00000183795 |
| UniProt ID | O14599 |
| OMIM ID | 400013 |
| HGNC ID | 1350 |
| Aliases | BPY2A, VCY2, VCY2A, MGC119173 |
Description
BPY2 (Basic Charge Y-Linked 2) is a protein-coding gene located on the Y chromosome within the azoospermia factor b (AZFb) region. It encodes a testis-specific protein with a high content of basic amino acids, involved in spermatogenesis. Deletions or mutations in BPY2 are associated with male infertility, including azoospermia and severe oligozoospermia. The protein may function in RNA binding or chromatin remodeling during germ cell development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia/oligozoospermia) | Deletion or mutation of BPY2 disrupts spermatogenesis, likely impairing germ cell maturation | ClinVar, OMIM |
| Spermatogenic failure Y-linked | AZFb microdeletions encompassing BPY2 cause meiotic arrest | OMIM #400013 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 82.3 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Sertoli cells) | — | Expressed in germ cells |
| HeLa | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted loss of function |
| Whole gene deletion | Structural variant | Common in AZFb deletions | Complete loss of BPY2; associated with azoospermia |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations in BPY2 lead to loss of protein function, impairing spermatogenesis and causing male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; Y-linked hemizygous inheritance precludes dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleic acid binding (GO:0003676) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • protein binding (GO:0005515) |
Pathways
• Spermatogenesis (KEGG: hsa04114)
• Meiotic recombination
Protein Summary
BPY2 encodes a 106-amino acid protein rich in basic residues (lysine, arginine). It localizes to the nucleus and is expressed exclusively in testicular germ cells. The protein is thought to bind nucleic acids and participate in chromatin remodeling during spermatogenesis. Loss of BPY2 due to Y-chromosome microdeletions is a known cause of non-obstructive azoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPY2B Knockout HEK293 Cell Line | EDJ-KQ12562 | Human | 442867 | Details Get a Quote |
| BPY2C Knockout HEK293 Cell Line | EDJ-KQ12563 | Human | 442868 | Details Get a Quote |
| BPY2 Knockout HEK293 Cell Line | EDJ-KQ50844 | Human | 9083 | Details Get a Quote |
| BPY2 Knockout HeLa Cell Line | EDJ-KQ55079 | Human | 9083 | Details Get a Quote |
| BPY2B Knockout HeLa Cell Line | EDJ-KQ60459 | Human | 442867 | Details Get a Quote |
| BPY2C Knockout HeLa Cell Line | EDJ-KQ60460 | Human | 442868 | Details Get a Quote |
| BPY2 Knockout A-549 Cell Line | EDJ-KQ63559 | Human | 9083 | Details Get a Quote |
| BPY2B Knockout A-549 Cell Line | EDJ-KQ68928 | Human | 442867 | Details Get a Quote |
| BPY2C Knockout A-549 Cell Line | EDJ-KQ68929 | Human | 442868 | Details Get a Quote |
| BPY2 Knockout HCT 116 Cell Line | EDJ-KQ72028 | Human | 9083 | Details Get a Quote |
| BPY2B Knockout HCT 116 Cell Line | EDJ-KQ77288 | Human | 442867 | Details Get a Quote |
| BPY2C Knockout HCT 116 Cell Line | EDJ-KQ77289 | Human | 442868 | Details Get a Quote |
