BPY2 Gene

Name basic charge, Y-linked, 2
Description This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nBPY2 is a multi‐copy gene located in the AZFc region of the Y chromosome and is implicated in the spermatogenic process. Studies have demonstrated that various rearrangements and copy deletions in AZFc—including those affecting BPY2—can contribute to differences in spermatogenic efficiency. For instance, investigation of gr/gr deletions revealed that one common haplotype carrying deletions affecting combinations of AZFc genes, including BPY2, was exclusively found within a particular Y‐chromosome haplogroup (Q1) and did not appear to exert pathogenic effects, highlighting that the genomic background may influence the phenotypic consequences of such rearrangements."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn a comprehensive analysis of AZFc structural variations, alterations in the copy number of BPY2, along with other AZFc genes like DAZ, were found at a significantly higher frequency in idiopathic infertile men when compared with healthy controls. These findings reinforce the notion that BPY2 plays an important role in normal spermatogenesis, and that its genomic rearrangements could contribute to impaired sperm production in certain populations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies have focused on the genetic diversity within BPY2 itself, screening for single nucleotide variations among its paralogs. Such efforts underline BPY2’s potential regulatory and functional importance in the testis, lending further support to its central role in the differentiation and development of male germ cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Y Yang, M Ma, L Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Androl (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-2605.2009.01015.x"}], "href": "https://doi.org/10.1111/j.1365-2605.2009.01015.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20039973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20039973"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Chuncheng Lu, Jie Jiang, Ruyang Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Hum Reprod (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molehr/gau043"}], "href": "https://doi.org/10.1093/molehr/gau043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24935076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24935076"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jin Choi, Eitetsu Koh, Hiromi Suzuki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Urol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1442-2042.2007.01741.x"}], "href": "https://doi.org/10.1111/j.1442-2042.2007.01741.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17511727"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17511727"}]}]}]}
Synonyms BPY2A, VCY2, VCY2A
Proteins VCY2_HUMAN
NCBI Gene ID 9083
API
Download Associations
Predicted Functions View BPY2's ARCHS4 Predicted Functions.
Co-expressed Genes View BPY2's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View BPY2's ARCHS4 Predicted Functions.

Functional Associations

BPY2 has 929 functional associations with biological entities spanning 6 categories (molecular profile, chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 32 datasets.

Click the + buttons to view associations for BPY2 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of BPY2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
BioGPS Cell Line Gene Expression Profiles cell lines with high or low expression of BPY2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of BPY2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of BPY2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of BPY2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
CMAP Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of BPY2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing BPY2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with BPY2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with BPY2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with BPY2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with BPY2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with BPY2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of BPY2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of BPY2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of BPY2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GO Cellular Component Annotations 2023 cellular components containing BPY2 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing BPY2 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by BPY2 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by BPY2 gene from the curated GO Molecular Function Annotations 2025 dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of BPY2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with BPY2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of BPY2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of BPY2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of BPY2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of BPY2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of BPY2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
MiRTarBase microRNA Targets microRNAs targeting BPY2 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of BPY2 gene from the Rummagene Transcription Factor Associations 2026 dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of BPY2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of BPY2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of BPY2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with BPY2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.