VCY1B (Variable Charge, Y-Linked 1B)
A Y-linked gene with predicted roles in spermatogenesis and male fertility, though functional evidence remains limited.
Gene Information Card
| Symbol | VCY1B |
|---|---|
| Full Name | Variable charge, Y-linked 1B |
| Gene Type | protein-coding |
| Chromosomal Location | Yq11.222 (GRCh38) |
| NCBI Gene ID | 353514 ncbi.nlm.nih.gov/gene/353514 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | O14652 |
| OMIM ID | 400033 |
| HGNC ID | 24675 |
| Aliases | VCY1B, VCY1, VCY, MGC126876 |
Description
VCY1B is a protein-coding gene located on the Y chromosome at Yq11.222. It belongs to the variable charge Y-linked (VCY) gene family, which arose from duplications on the Y chromosome. The gene is expressed predominantly in the testis, suggesting a role in spermatogenesis or male fertility. However, functional studies are limited, and the exact biological role remains to be fully characterized. VCY1B is one of several VCY genes that share high sequence similarity, and its protein product contains a coiled-coil domain, which may mediate protein-protein interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential involvement due to testis-specific expression and Y-linked location; however, no direct causal mutations have been established. | Limited evidence from expression studies; no clinical association reported in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM data not provided in sources) | High expression reported in testis (RNA-seq data from GTEx, but nTPM values not specified in NCBI/Ensembl). |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line expression data available | N/A | No data from sources. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | N/A | N/A | No disease-associated mutations documented in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in VCY1B.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Spermatogenesis (inferred from expression) |
| • Cellular component: Not characterized |
Pathways
• No specific pathways annotated for VCY1B in major databases.
Protein Summary
The VCY1B protein is predicted to be a small, basic protein with a coiled-coil domain. It is likely involved in protein-protein interactions, but its exact function is unknown. The protein is expressed in the testis, suggesting a role in male reproductive biology. No post-translational modifications or structural details are available from UniProt.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCY1B Knockout HEK293 Cell Line | EDJ-KQ16096 | Human | 353513 | Details Get a Quote |
| VCY1B Knockout HeLa Cell Line | EDJ-KQ59879 | Human | 353513 | Details Get a Quote |
| VCY1B Knockout A-549 Cell Line | EDJ-KQ68342 | Human | 353513 | Details Get a Quote |
| VCY1B Knockout HCT 116 Cell Line | EDJ-KQ76718 | Human | 353513 | Details Get a Quote |
