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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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VWCE
von Willebrand factor C and EGF domains
Chromosome 11 Β· 11q12.2
NCBI Gene: 220001Ensembl: ENSG00000167992.15HGNC: HGNC:26487UniProt: Q96DN2
22PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmcytosolcellular response to viruscytoplasmShort statureneurodegenerative diseasegastrointestinal diseasefamilial hemolytic anemia
✦AI Summary

VWCE (von Willebrand factor C and EGF domains) functions as a tumor suppressor and metabolic regulator with significant clinical implications. The protein acts as a negative regulator of amino acid-dependent mTORC1 signaling by interacting with the KICSTOR complex to facilitate GATOR1 recruitment to lysosomes 1. In cancer contexts, VWCE demonstrates tumor suppressive properties, with downregulated expression observed in breast cancer tissues compared to normal controls 2. VWCE overexpression inhibits proliferation, migration, invasion, and chemoresistance in breast cancer cells, suppressing tumor formation and metastasis through downregulation of WDR1 protein 2. The gene shows hypomethylation in triple-negative breast cancer, contributing to its altered expression patterns 3. Clinically, high VWCE expression correlates with poor prognosis in multiple cancer types, serving as an independent predictor of metastatic recurrence in early-stage colorectal cancer 4 and contributing to prognostic models in oral squamous cell carcinoma 5. VWCE expression is also reduced in prostate cancer, where overexpression inhibits cancer development 1. The protein responds to radiation exposure, making it useful as a biodosimetric marker 6. These findings position VWCE as both a potential therapeutic target and prognostic biomarker across multiple cancer types.

Sources cited
1
VWCE acts as negative regulator of mTORC1 signaling and interacts with KICSTOR complex
PMID: 38123554
2
VWCE functions as tumor suppressor in breast cancer, inhibiting proliferation and metastasis via WDR1 downregulation
PMID: 33194737
3
VWCE shows hypomethylation in triple-negative breast cancer
PMID: 32019179
4
High VWCE expression predicts metastatic recurrence in colorectal cancer
PMID: 38063988
5
VWCE contributes to prognostic models in oral squamous cell carcinoma
PMID: 38677972
6
VWCE responds to radiation exposure and serves as biodosimetric marker
PMID: 29850926
Disease Associationsβ“˜20
Short statureOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
gastrointestinal diseaseOpen Targets
0.15Weak
familial hemolytic anemiaOpen Targets
0.10Suggestive
preeclampsiaOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
Abnormal blistering of the skinOpen Targets
0.06Suggestive
colorectal adenocarcinomaOpen Targets
0.03Suggestive
posterior cortical atrophyOpen Targets
0.03Suggestive
IGA glomerulonephritisOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.02Suggestive
benign prostatic hyperplasiaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
pachyonychia congenitaOpen Targets
0.02Suggestive
lymph node metastatic carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)Pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 545
View on ClinVar β†—
Related Genes
LGALS8Shared pathway100%FAUProtein interaction81%TWSG1Protein interaction72%POU2F2Shared pathway33%EIF5AShared pathway25%POU2AF1Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Ovary
96%
Bone Marrow
16%
Brain
5%
Lung
5%
Heart
4%
Gene Interaction Network
Click a node to explore
VWCELGALS8FAUTWSG1POU2F2EIF5APOU2AF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96DN2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.54–0.81]
RankingsWhere VWCE stands among ~20K protein-coding genes
  • #13,797of 20,598
    Most Researched22
  • #5,355of 5,498
    Most Pathogenic Variants1
  • #6,826of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedVWCE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Expression Analysis of Early Metastatic Seeding of Colorectal Cancer.
PMID: 38063988
Ann Surg Oncol Β· 2024
1.00
2
VWCE modulates amino acid-dependent mTOR signaling and coordinates with KICSTOR to recruit GATOR1 to the lysosomes.
PMID: 38123554
Nat Commun Β· 2023
0.90
3
Prognostic Analysis of Lactic Acid Metabolism Genes in Oral Squamous Cell Carcinoma.
PMID: 38677972
Int Dent J Β· 2024
0.80
4
Gene Expression Analysis for Uterine Cervix and Corpus Cancer Characterization.
PMID: 38540371
Genes (Basel) Β· 2024
0.70
5
VWCE Functions as a Tumor Suppressor in Breast Cancer Cells.
PMID: 33194737
Front Oncol Β· 2020
0.60