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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VWC2
von Willebrand factor C domain containing 2
Chromosome 7 · 7p12.2
NCBI Gene: 375567Ensembl: ENSG00000188730.6HGNC: HGNC:30200UniProt: Q2TAL6
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of neuron differentiationGO:0005615negative regulation of BMP signaling pathwayobesitysmoking initiationtype 2 diabetes mellitusankylosing spondylitis
✦AI Summary

VWC2 (von Willebrand factor C domain containing 2), also known as Brorin, is a secreted cysteine knot protein with emerging roles in bone metabolism, cancer regulation, and neurological function. Primary Function: VWC2 functions as an antagonist of activin signaling rather than BMP signaling as previously hypothesized 1. The protein promotes bone formation by inhibiting activin A-induced Smad2 phosphorylation in osteoblasts and is present in bone matrix at osteoblasts and osteocytes 1. Mechanism: VWC2 binds the βA subunit of activin within the TGF-β superfamily and reverses activin A's inhibitory effects on osteoblast cell growth, differentiation, and mineralization 1. In dental pulp tissues, VWC2 acts as a BMP antagonist with reduced expression associated with aberrant intrapulpal calcifications in enamel renal syndrome 2. Disease Relevance: Reduced VWC2 expression correlates with colorectal cancer progression, with DNA hypermethylation-induced downregulation mediated by SUMO1-modified DNMT1 promoting malignancy 3. Conversely, elevated plasma VWC2 levels exhibit protective effects against lung adenocarcinoma (OR=0.85) 4. Clinical Significance: VWC2 is identified as a candidate biomarker associated with cognitive outcomes in stroke patients, obesity-related language development, and metabolic syndrome-related cognitive decline, with lifestyle interventions modulating its association with cognitive function 5, 6, 7. VWC2 represents a potentially druggable therapeutic target for cancer and neurological conditions.

Sources cited
1
VWC2 inhibits activin signaling (not BMP signaling) and promotes bone formation through Smad2 pathway inhibition
PMID: 30074079
2
VWC2 is a BMP antagonist with decreased expression in enamel renal syndrome associated with intrapulpal calcifications
PMID: 37159186
3
VWC2 is hypermethylated in colorectal cancer, with reduced expression correlating with tumor progression; SUMO1-mediated DNMT1 suppresses VWC2
PMID: 36353938
4
Increased plasma VWC2 levels are protective against lung adenocarcinoma (OR=0.85) and VWC2 is a potentially druggable target
PMID: 38576019
5
VWC2 is identified as a candidate biomarker associated with long-term post-stroke cognitive outcome
PMID: 40316737
6
VWC2 is consistently associated with multiple cognitive domains and included in protein composite scores for cognitive function in metabolic syndrome
PMID: 40972225
7
VWC2 expression is associated with language ability and white matter myelination in childhood development
PMID: 39938231
8
VWC2 is a neurology-related protein associated with years of welding exposure in longitudinal and cross-sectional samples
PMID: 32984236
Disease Associationsⓘ20
obesityOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
ankylosing spondylitisOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.23Weak
Pancreatic pseudocystOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.19Weak
benign neoplasm of adrenal glandOpen Targets
0.17Weak
psoriatic arthritisOpen Targets
0.17Weak
skin diseaseOpen Targets
0.17Weak
frozen shoulderOpen Targets
0.17Weak
keratoconusOpen Targets
0.17Weak
systemic lupus erythematosusOpen Targets
0.17Weak
nutritional deficiency diseaseOpen Targets
0.16Weak
preeclampsiaOpen Targets
0.16Weak
musculoskeletal system diseaseOpen Targets
0.03Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
Tetralogy of FallotOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHRDProtein interaction83%VWC2LShared pathway33%SKOR1Shared pathway33%TCF4Shared pathway33%PCP4Shared pathway33%NBL1Shared pathway29%
Tissue Expression6 tissues
Heart
100%
Ovary
33%
Brain
7%
Lung
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
VWC2CHRDVWC2LSKOR1TCF4PCP4NBL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2TAL6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.46–1.10]
RankingsWhere VWC2 stands among ~20K protein-coding genes
  • #16,942of 20,598
    Most Researched11
  • #11,253of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedVWC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Systematic proteome-wide Mendelian randomization using the human plasma proteome to identify therapeutic targets for lung adenocarcinoma.
PMID: 38576019
J Transl Med · 2024
1.00
2
FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.
PMID: 37159186
Int Endod J · 2023
0.90
3
Plasma neurology-related proteins associated with cognition are modulated by lifestyle in adults.
PMID: 40972225
EBioMedicine · 2025
0.80
4
VWC2 Increases Bone Formation Through Inhibiting Activin Signaling.
PMID: 30074079
Calcif Tissue Int · 2018
0.70
5
SUMO1-modified DNA methyltransferase 1 induces DNA hypermethylation of VWC2 in the development of colorectal cancer.
PMID: 36353938
Neoplasma · 2022
0.60