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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
VCX2
variable charge X-linked 2
Chromosome X Β· Xp22.31
NCBI Gene: 51480Ensembl: ENSG00000177504.10HGNC: HGNC:18158UniProt: Q9H322
8PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
brain developmentmelanomacancerneoplasmbreast cancer
✦AI Summary

VCX2 (variable charge X-linked 2) is an X-linked gene whose primary function remains incompletely characterized, though it may participate in spermatogenesis or sex ratio distortion based on UniProt annotations. VCX2 is located on chromosome X.3 within a region containing other variable charge family members and is subject to structural variation. The gene has been identified as a differentially expressed gene in molecular network analyses distinguishing idiopathic pulmonary fibrosis from lung squamous cell carcinoma, suggesting potential involvement in pulmonary pathology 1. VCX2 is located adjacent to functionally characterized genes including STS (steroid sulfatase); large genomic deletions encompassing VCX2 have been identified in patients with X-linked ichthyosis, though VCX2 deletion alone does not appear causative for the associated mental retardation phenotype 2, 3. A 4.8 Mb deletion involving VCX2 and multiple flanking genes (including ANOS1, VCX3B, PNPLA4, VCX, STS, HDHD1, VCX3A, and NLGN4X) was identified in a patient with Kallmann syndrome and ichthyosis 4, indicating VCX2 may contribute to pleiotrophic phenotypes when deleted in concert with adjacent genes. GO annotations suggest possible involvement in brain development, though direct evidence for this function is limited.

Sources cited
1
VCX2 identified as a differentially expressed gene in molecular networks distinguishing idiopathic pulmonary fibrosis from lung squamous cell carcinoma
PMID: 40580591
2
VCX2 is part of a 4.8 Mb deletion on Xp22.3 involving multiple genes, identified in a patient with Kallmann syndrome and ichthyosis
PMID: 28122887
3
VCX2 gene location and analysis in X-linked ichthyosis patients; VCX3A deletion alone is not sufficient for mental retardation, suggesting complex mechanisms
PMID: 18076704
4
VCX2 is located in the Xp22.3 region subject to interstitial deletions associated with X-linked ichthyosis and mental retardation
PMID: 23791652
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜13
melanomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
recessive X-linked ichthyosisOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.00Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
ichthyosisOpen Targets
0.00Suggestive
partial epilepsyOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FOXG1Shared pathway100%VCYShared pathway100%PHGDHShared pathway100%MATCAP1Shared pathway100%FOXR1Shared pathway100%DNAJC30Shared pathway100%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
VCX2FOXG1VCYPHGDHMATCAP1FOXR1DNAJC30
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9H322
View on AlphaFold β†—
RankingsWhere VCX2 stands among ~20K protein-coding genes
  • #17,746of 20,598
    Most Researched8
Genes detectedVCX2
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
PMID: 28122887
Hum Reprod Β· 2017
1.00
2
Identification of the differences in molecular networks between idiopathic pulmonary fibrosis and lung squamous cell carcinoma using machine learning.
PMID: 40580591
Comput Biol Chem Β· 2025
0.75
3
Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis.
PMID: 18076704
Br J Dermatol Β· 2008
0.50
4
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
PMID: 23791652
Gene Β· 2013
0.25