VCX2 Gene - Variable Charge X-linked 2
VCX2: A member of the VCX/Y gene family on chromosome Xp22.31
Gene Information Card
| Symbol | VCX2 |
|---|---|
| Full Name | Variable charge X-linked 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 51480 ncbi.nlm.nih.gov/gene/51480 |
| Ensembl ID | ENSG00000169084 |
| UniProt ID | Q9H2M9 |
| OMIM ID | 300229 |
| HGNC ID | 18158 |
| Aliases | VCX-2, VCX2P, VCX2L |
Description
VCX2 (Variable Charge X-linked 2) is a protein-coding gene located on the X chromosome at Xp22.31. It belongs to the VCX/Y gene family, which is characterized by a variable number of tandem repeats encoding a charged amino acid domain. VCX2 is expressed predominantly in the brain and testis. The exact function is not fully characterized, but it is thought to be involved in spermatogenesis and neuronal development. Deletions and duplications in this region are associated with X-linked intellectual disability and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Deletion of VCX2 and neighboring genes on Xp22.31 may contribute to cognitive impairment | OMIM #300229; literature review |
| Male infertility | VCX2 expression in testis suggests role in spermatogenesis; deletions linked to azoospermia | NCBI Gene; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Medium |
| Brain | 3.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| SH-SY5Y | 4.5 | Moderate expression |
| NT2/D1 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
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) |
Protein Summary
The VCX2 protein (UniProt Q9H2M9) is a small, highly basic protein containing a variable number of charged amino acid repeats. It is localized to the nucleus and may function in chromatin remodeling or transcriptional regulation. The protein is expressed in testis and brain, suggesting roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCX2 Knockout HEK293 Cell Line | EDJ-KQ51320 | Human | 51480 | Details Get a Quote |
| VCX2 Knockout HeLa Cell Line | EDJ-KQ56319 | Human | 51480 | Details Get a Quote |
| VCX2 Knockout A-549 Cell Line | EDJ-KQ64806 | Human | 51480 | Details Get a Quote |
| VCX2 Knockout HCT 116 Cell Line | EDJ-KQ73251 | Human | 51480 | Details Get a Quote |
