HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BPY2
basic charge Y-linked 2
Chromosome Y · Yq11.223
NCBI Gene: 9083Ensembl: ENSG00000183753.10HGNC: HGNC:13508UniProt: O14599
15PubMed Papers
10Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingHECT domain bindingspermatogenesisnucleusinfertilitymale infertilityazoospermiaprostate cancer
✦AI Summary

BPY2 (basic charge Y-linked 2) is a Y chromosome Y implicated in spermatogenesis and male fertility. The gene exists in three copies within the AZFc region of the Y chrY, located within palindromic repeats containing Alu sequences in their 5' flanking regions 1. BPY2 deletions are associated with male infertility, as the gene is commonly lost in patients with Yq microdeletions who present with severely reduced sperm counts 2. However, BPY2 is not absolutely essential for fertility, as demonstrated by exceptional cases where fathers lacking all copies of BPY2, CDY1, and DAZ successfully transmitted their deleted Y chrY to multiple sons, suggesting compensatory mechanisms through rare autosomal or X-linked alleles 3. Genetic variants in BPY2's promoter region show clinical relevance: the A/A/A genotype across all three gene copies is significantly associated with Sertoli cell-only syndrome, appearing in 3.8% of infertile patients versus 0% of fertile controls 1. Expression profiling reveals BPY2 transcripts are downregulated in non-obstructive azoospermia patients, and specific BPY2 isoforms may serve as molecular markers to predict successful sperm retrieval in maturation arrest patients 4. Evolutionary analysis indicates BPY2 shows unique splicing patterns compared to other Y chromosome Y genes 5.

Sources cited
1
BPY2 exists in three copies within AZFc region and A/A/A genotype is associated with Sertoli cell-only syndrome
PMID: 17511727
2
BPY2 is lost in infertile patients with Yq microdeletions and may play a role in male gametogenesis
PMID: 11097430
3
BPY2 is not essential for sustained fertility as demonstrated by exceptional transmission cases
PMID: 10956550
4
BPY2 transcripts are downregulated in non-obstructive azoospermia and may serve as molecular markers
PMID: 26162009
5
BPY2 shows unique alternative splicing patterns among Y chromosome ampliconic genes
PMID: 37967251
Disease Associationsⓘ10
infertilityOpen Targets
0.02Suggestive
male infertilityOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
small cell osteogenic sarcomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
gonadoblastomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UTYProtein interaction96%DAZ1Protein interaction95%RBMY1A1Protein interaction95%RBMY1CProtein interaction95%TSPY1Protein interaction95%VCYProtein interaction95%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
BPY2UTYDAZ1RBMY1A1RBMY1CTSPY1VCY
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14599
View on AlphaFold ↗
RankingsWhere BPY2 stands among ~20K protein-coding genes
  • #15,499of 20,598
    Most Researched15
Genes detectedBPY2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility.
PMID: 10956550
Mol Hum Reprod · 2000
1.00
2
Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype.
PMID: 17511727
Int J Urol · 2007
0.90
3
Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.
PMID: 37967251
Genome Biol Evol · 2023
0.80
4
Isoform-Level Gene Expression Profiles of Human Y Chromosome Azoospermia Factor Genes and Their X Chromosome Paralogs in the Testicular Tissue of Non-Obstructive Azoospermia Patients.
PMID: 26162009
J Proteome Res · 2015
0.70
5
Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.
PMID: 36993458
bioRxiv · 2023
0.60