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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VSTM2L
V-set and transmembrane domain containing 2 like
Chromosome 20 · 20q11.23
NCBI Gene: 128434Ensembl: ENSG00000132821.13HGNC: HGNC:16096UniProt: Q96N03
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of neuron apoptotic processextracellular regioncytoplasmAbnormality of the skeletal systemtrigeminal nerve diseasecancerposterior cortical atrophy
✦AI Summary

VSTM2L is a mitochondria-localized, transmembrane protein with multifaceted roles in cancer progression and neurological disease. Primary function: VSTM2L regulates ferroptosis resistance and cell survival through protein-protein interactions. Mechanism: VSTM2L binds to voltage-dependent anion channel 1 (VDAC1) and hexokinase 2 (HK2), preventing VDAC1 oligomerization and maintaining mitochondrial homeostasis 1. In ovarian cancer, VSTM2L promotes anoikis resistance via epithelial-mesenchymal transition (EMT) signaling through TGF-β and NF-κB pathways 2. VSTM2L also modulates IL-4 signaling, affecting immune cell infiltration and tumor microenvironment composition 3. Disease relevance: VSTM2L expression shows cancer-type-specific prognostic significance: upregulation associates with poor outcomes in stomach adenocarcinoma and favorable outcomes in kidney renal papillary cell carcinoma 3. In cholangiocarcinoma, VSTM2L silencing reduces cell viability and promotes favorable prognosis; soluble VSTM2L functions as a blood-based biomarker 4. VSTM2L variants (rs6021854) are associated with restless legs syndrome in migraineurs, with functional studies showing involvement in dopaminergic system development 5. VSTM2L downregulation impairs antioxidant defense in intermittent hypoxia models 6. Clinical significance: VSTM2L represents a therapeutic target for ferroptosis-inducing cancer treatment and a prognostic biomarker across multiple malignancies.

Sources cited
1
VSTM2L localizes to mitochondria, binds VDAC1 and HK2, prevents VDAC1 oligomerization, and inhibits ferroptosis in prostate cancer
PMID: 39880844
2
VSTM2L regulates IL-4 signaling; elevated expression predicts poor prognosis in stomach adenocarcinoma but favorable outcomes in kidney renal papillary cell carcinoma; correlates with immune cell infiltration and tumor microenvironment markers
PMID: 35155565
3
VSTM2L promotes anoikis resistance in ovarian cancer through EMT-related TGF-β and NF-κB signaling; higher expression in metastatic lesions correlates with metastasis and poor prognosis
PMID: 37030064
4
VSTM2L silencing reduces cholangiocarcinoma cell viability; soluble VSTM2L detected in patient blood serves as a prognostic biomarker
PMID: 38649146
5
VSTM2L variant rs6021854 associates with restless legs syndrome in migraineurs; functional knockdown in zebrafish causes hyperkinetic movements and decreased dopaminergic amacrine cells
PMID: 35350973
6
VSTM2L variant rs1998049 associates with chronic venous disease; affects endothelial VEGF consumption and tube formation
PMID: 40886904
7
Vstm2l expression is downregulated in intermittent hypoxia models; decreased expression correlates with cognitive dysfunction and suppressed antioxidant pathway
PMID: 40806623
8
VSTM2L is among key genes elevated in high-risk ovarian cancer stemness signature with independent prognostic prediction capability
PMID: 35741755
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
trigeminal nerve diseaseOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
rectum cancerOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
ovarian neoplasmOpen Targets
0.05Suggestive
tooth diseaseOpen Targets
0.05Suggestive
age related macular degeneration 11Open Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 4Open Targets
0.05Suggestive
age related macular degeneration 6Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
coloboma of optic nerveOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHL1Shared pathway50%TOX3Shared pathway50%EN2Shared pathway33%GRINAShared pathway33%RETREG1Shared pathway25%UNC5BShared pathway25%
Tissue Expression6 tissues
Brain
100%
Heart
56%
Lung
29%
Liver
16%
Ovary
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
VSTM2LCHL1TOX3EN2GRINARETREG1UNC5B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96N03
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.49 [0.29–0.85]
RankingsWhere VSTM2L stands among ~20K protein-coding genes
  • #16,042of 20,598
    Most Researched14
  • #7,415of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedVSTM2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
VSTM2L protects prostate cancer cells against ferroptosis via inhibiting VDAC1 oligomerization and maintaining mitochondria homeostasis.
PMID: 39880844
Nat Commun · 2025
1.00
2
Pan-Cancer Analysis Reveals the Multidimensional Expression and Prognostic and Immunologic Roles of
PMID: 35155565
Front Mol Biosci · 2021
0.90
3
VSTM2L contributes to anoikis resistance and acts as a novel biomarker for metastasis and clinical outcome in ovarian cancer.
PMID: 37030064
Biochem Biophys Res Commun · 2023
0.80
4
VSTM2L is a promising therapeutic target and a prognostic soluble-biomarker in cholangiocarcinoma.
PMID: 38649146
BMB Rep · 2024
0.70
5
Genome-wide analysis identified novel susceptible genes of restless legs syndrome in migraineurs.
PMID: 35350973
J Headache Pain · 2022
0.60