Description: Homo sapiens basic charge, Y-linked, 2 (BPY2), mRNA. RefSeq Summary (NM_004678): 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]. CCDS Note: This CCDS ID represents the protein described in PMIDs: 12724276 and 12207887. It should be noted this transcript is predicted to undergo nonsense-mediated mRNA decay (NMD). However, the protein is represented because it was detected endogenously in PMID: 12724276. Three 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. Transcript (Including UTRs) Position: hg19 chrY:25,130,410-25,151,610 Size: 21,201 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chrY:25,138,491-25,144,415 Size: 5,925 Coding Exon Count: 4
ID:VCY2_HUMAN DESCRIPTION: RecName: Full=Testis-specific basic protein Y 2; AltName: Full=Basic charge, Y-linked 2; AltName: Full=Variably charged protein Y 2; SUBUNIT: Interacts with MAP1S. Interacts with UBE3A (via HECT domain). INTERACTION: Q66K74:MAP1S; NbExp=3; IntAct=EBI-2133713, EBI-2133734; TISSUE SPECIFICITY: Expressed exclusively in testis. Expressed in ejaculated spermatozoa of germ cell. Expressed in the nuclei of spermatogonia, spermatocytes, and round spermatids, except elongated spermatids (at protein level). SIMILARITY: Belongs to the VCX/VCY family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): BPY2 CDC HuGE Published Literature: BPY2 Positive Disease Associations: infertility, male Related Studies:
infertility, male Choi, J. et al. 2007, Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype, Int J Urol 2007 14(5) 431-5.
[PubMed 17511727]
The A/A/A genotype may be associated with the SCO phenotype. The alteration of all three copies of BPY2 within the AZFc region on the Y chromosome may affect spermatogenic process.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on O14599
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
