BPY2 basic charge Y-linked 2
Gene ID: 9083, updated on 10-Oct-2023Gene type: protein coding
Also known as: VCY2; BPY2A; VCY2A
Summary
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]
Associated conditions
| Description | Tests |
|---|---|
| Spermatogenic failure, Y-linked, 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-08-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- Yq11.223
- Sequence:
- Chromosome: Y; NC_000024.10 (22984263..23005465)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BPY2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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