VCX Gene - Variable Charge X-Linked Protein
VCX: A testis-specific gene on the X chromosome involved in spermatogenesis and associated with male infertility
Gene Information Card
| Symbol | VCX |
|---|---|
| Full Name | Variable charge X-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 26609 ncbi.nlm.nih.gov/gene/26609 |
| Ensembl ID | ENSG00000169083 |
| UniProt ID | P0DOF2 |
| OMIM ID | 300229 |
| HGNC ID | 12671 |
| Aliases | VCX1, VCX-1, VCX2, VCX3A, VCX3B |
Description
VCX (Variable charge X-linked) is a protein-coding gene located on the X chromosome at Xp22.31. It belongs to a family of VCX/Y genes that are expressed predominantly in the testis. The VCX protein is characterized by a variable number of acidic amino acid repeats and is thought to play a role in spermatogenesis. Deletions and copy number variations of VCX have been associated with male infertility, particularly with spermatogenic failure. The gene is part of a duplicated region on the X chromosome, with multiple paralogs including VCX2, VCX3A, and VCX3B.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with spermatogenic failure | Deletion or copy number loss of VCX disrupts spermatogenesis | OMIM 300229; ClinVar: multiple reports of VCX deletions in infertile men |
| X-linked intellectual disability (possible) | Rare missense variants may affect protein function, but evidence is limited | ClinVar: uncertain significance variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 52.3 | Testis-derived, high expression |
| HEK293 | 0.1 | No significant expression |
| HeLa | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion of VCX (whole gene) | Copy number loss | Rare in general population; enriched in infertile men | Loss of function; associated with spermatogenic failure |
| c.1A>G (p.Met1?) | Missense | Very rare | Likely loss of start codon; uncertain significance |
| c.100G>A (p.Gly34Arg) | Missense | Very rare | Uncertain significance; not reported in ClinVar as pathogenic |
Mutation functional classification
Loss of Function (LOF)
Deletions of VCX are associated with male infertility, indicating loss of function impairs spermatogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations for VCX.
Dominant Negative (DN)
No evidence of dominant-negative effects for VCX.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) | • spermatogenesis (GO:0007283) |
Pathways
• No specific pathway annotations in KEGG or Reactome for VCX.
Protein Summary
The VCX protein is a small, highly acidic protein with a variable number of charged amino acid repeats. It is localized to the nucleus and is thought to interact with chromatin or transcription factors during spermatogenesis. The exact molecular function remains unclear, but its testis-specific expression and association with male fertility underscore its importance in germ cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCX3B Knockout HEK293 Cell Line | EDJ-KQ16095 | Human | 425054 | Details Get a Quote |
| VCX Knockout HEK293 Cell Line | EDJ-KQ51189 | Human | 26609 | Details Get a Quote |
| VCX2 Knockout HEK293 Cell Line | EDJ-KQ51320 | Human | 51480 | Details Get a Quote |
| VCX3A Knockout HEK293 Cell Line | EDJ-KQ51321 | Human | 51481 | Details Get a Quote |
| VCX Knockout HeLa Cell Line | EDJ-KQ55956 | Human | 26609 | Details Get a Quote |
| VCX2 Knockout HeLa Cell Line | EDJ-KQ56319 | Human | 51480 | Details Get a Quote |
| VCX3A Knockout HeLa Cell Line | EDJ-KQ56320 | Human | 51481 | Details Get a Quote |
| VCX3B Knockout HeLa Cell Line | EDJ-KQ60368 | Human | 425054 | Details Get a Quote |
| VCX Knockout A-549 Cell Line | EDJ-KQ64443 | Human | 26609 | Details Get a Quote |
| VCX2 Knockout A-549 Cell Line | EDJ-KQ64806 | Human | 51480 | Details Get a Quote |
| VCX3A Knockout A-549 Cell Line | EDJ-KQ64807 | Human | 51481 | Details Get a Quote |
| VCX3B Knockout A-549 Cell Line | EDJ-KQ68836 | Human | 425054 | Details Get a Quote |
| VCX Knockout HCT 116 Cell Line | EDJ-KQ72899 | Human | 26609 | Details Get a Quote |
| VCX2 Knockout HCT 116 Cell Line | EDJ-KQ73251 | Human | 51480 | Details Get a Quote |
| VCX3A Knockout HCT 116 Cell Line | EDJ-KQ73252 | Human | 51481 | Details Get a Quote |
