VCY Gene - VCY1 (Variable Charge, Y-Linked)
Comprehensive genomic and proteomic analysis of the Y-linked gene VCY (VCY1), including expression, mutations, and disease associations.
Gene Information Card
| Symbol | VCY |
|---|---|
| Full Name | Variable charge, Y-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.222 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000169031 |
| UniProt ID | O14602 |
| OMIM ID | 400012 |
| HGNC ID | 12671 |
| Aliases | VCY1, BPY1, VCY1A |
Description
VCY (Variable charge, Y-linked) is a protein-coding gene located on the Y chromosome at Yq11.222. It encodes a protein with a variable charge domain and is expressed predominantly in the testis. The gene is part of the Y-chromosomal azoospermia factor (AZF) region and is implicated in spermatogenesis. Deletions or mutations in VCY have been associated with male infertility, particularly non-obstructive azoospermia and severe oligozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Deletion or loss of VCY disrupts spermatogenesis | ClinVar, OMIM |
| Severe oligozoospermia | Copy number variation or point mutations affecting protein function | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 0.2 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
| Testicular germ cell line (e.g., TCam-2) | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| Whole gene deletion | Structural variant | Rare | Loss of function associated with infertility |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations in VCY are associated with impaired spermatogenesis and male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Pathways
• Spermatogenesis (inferred from genomic context)
Protein Summary
The VCY protein (UniProt O14602) is a small, basic protein of 125 amino acids with a variable charge domain. It is localized to the nucleus and may play a role in chromatin remodeling or transcriptional regulation during spermatogenesis. The protein is testis-specific and its expression is essential for normal sperm production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCY1B Knockout HEK293 Cell Line | EDJ-KQ16096 | Human | 353513 | Details Get a Quote |
| VCY Knockout HEK293 Cell Line | EDJ-KQ50845 | Human | 9084 | Details Get a Quote |
| VCY Knockout HeLa Cell Line | EDJ-KQ55080 | Human | 9084 | Details Get a Quote |
| VCY1B Knockout HeLa Cell Line | EDJ-KQ59879 | Human | 353513 | Details Get a Quote |
| VCY Knockout A-549 Cell Line | EDJ-KQ63560 | Human | 9084 | Details Get a Quote |
| VCY1B Knockout A-549 Cell Line | EDJ-KQ68342 | Human | 353513 | Details Get a Quote |
| VCY Knockout HCT 116 Cell Line | EDJ-KQ72029 | Human | 9084 | Details Get a Quote |
| VCY1B Knockout HCT 116 Cell Line | EDJ-KQ76718 | Human | 353513 | Details Get a Quote |
