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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SCUBE2
signal peptide, CUB domain and EGF like domain containing 2
Chromosome 11 Β· 11p15.4
NCBI Gene: 57758Ensembl: ENSG00000175356.14HGNC: HGNC:30425UniProt: A0A3B3ISZ7
38PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of smoothened signaling pathwayprotein bindingprotein carrier activityGO:0005615prostate carcinomaCerebral arteriovenous malformationanemia (phenotype)breast cancer
✦AI Summary

SCUBE2 is a multifunctional secreted and membrane-associated protein with context-dependent roles in development, vascular biology, and disease. Primarily, SCUBE2 mediates Sonic hedgehog (SHH) signaling by binding lipid-modified SHH and promoting its mobilization and proteolytic release from cell membranes, thereby enabling long-range SHH signaling 12. Beyond SHH biology, SCUBE2 serves as a coreceptor for VEGFR2 in vascular endothelial cells, facilitating VEGF-induced angiogenesis through formation of SCUBE2-VEGF-VEGFR2 signaling complexes 3. SCUBE2 additionally stabilizes vascular barrier function by recruiting VE-PTP to dephosphorylate VE-cadherin at adherens junctions, preventing endocytosis and maintaining endothelial integrity 4. Disease relevance is substantial: SCUBE2 expression associates with pulmonary fibrosis pathogenesis through alveolar fibroblast-to-pathological fibroblast transitions 5, promotes bone metastasis in luminal breast cancer via SHH-mediated osteoblastic niche remodeling 6, and increases during atherosclerosis development correlating with vascular inflammation 78. In non-small cell lung cancer, SCUBE2 exhibits tumor-suppressive activity by inhibiting proliferation and migration through SHH pathway suppression 9. Clinically, SCUBE2 shows promise as a prognostic marker in hormone receptor-positive cancers and potential therapeutic target in fibrotic and metastatic diseases.

Sources cited
1
Beyond SHH biology, SCUBE2 serves as a coreceptor for VEGFR2 in vascular endothelial cells, facilitating VEGF-induced angiogenesis through formation of SCUBE2-VEGF-VEGFR2 signaling complexes .
PMID: 27834687
2
SCUBE2 additionally stabilizes vascular barrier function by recruiting VE-PTP to dephosphorylate VE-cadherin at adherens junctions, preventing endocytosis and maintaining endothelial integrity .
PMID: 38870316
3
Disease relevance is substantial: SCUBE2 expression associates with pulmonary fibrosis pathogenesis through alveolar fibroblast-to-pathological fibroblast transitions , promotes bone metastasis in luminal breast cancer via SHH-mediated osteoblastic niche remodeling , and increases during atherosclerosis development correlating with vascular inflammation , .
PMID: 39910313
4
Disease relevance is substantial: SCUBE2 expression associates with pulmonary fibrosis pathogenesis through alveolar fibroblast-to-pathological fibroblast transitions , promotes bone metastasis in luminal breast cancer via SHH-mediated osteoblastic niche remodeling , and increases during atherosclerosis development correlating with vascular inflammation , .
PMID: 37142671
5
In non-small cell lung cancer, SCUBE2 exhibits tumor-suppressive activity by inhibiting proliferation and migration through SHH pathway suppression .
PMID: 29883759
Disease Associationsβ“˜20
prostate carcinomaOpen Targets
0.32Weak
Cerebral arteriovenous malformationOpen Targets
0.27Weak
anemia (phenotype)Open Targets
0.24Weak
breast cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
Eiken syndromeOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
autoimmune disorder of musculoskeletal systemOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
Lipodystrophy - intellectual disability - deafnessOpen Targets
0.05Suggestive
lipodystrophy-intellectual disability-deafness syndromeOpen Targets
0.05Suggestive
rhizomelic chondrodysplasia punctata type 3Open Targets
0.05Suggestive
multiple epiphyseal dysplasia type 1Open Targets
0.04Suggestive
multiple epiphyseal dysplasia type 4Open Targets
0.04Suggestive
autosomal dominant osteosclerosis, Worth typeOpen Targets
0.04Suggestive
multiple epiphyseal dysplasia type 5Open Targets
0.04Suggestive
pseudopseudohypoparathyroidismOpen Targets
0.04Suggestive
Hypocalcemic vitamin D-resistant ricketsOpen Targets
0.04Suggestive
hip dysplasia, Beukes typeOpen Targets
0.04Suggestive
metaphyseal dysplasia, Braun-Tinschert typeOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)Likely pathogenic
Cerebral arteriovenous malformation
β˜…β˜†β˜†β˜†2018β†’ Residue 686
View on ClinVar β†—
Related Genes
TTC23Shared pathway100%DENND2BProtein interaction84%CTSVProtein interaction71%PDCLShared pathway50%ARMC9Shared pathway50%TXNDC15Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
22%
Brain
15%
Liver
9%
Ovary
8%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
SCUBE2TTC23DENND2BCTSVPDCLARMC9TXNDC15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NQ36
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.72–1.00]
RankingsWhere SCUBE2 stands among ~20K protein-coding genes
  • #10,540of 20,598
    Most Researched38
  • #5,188of 5,498
    Most Pathogenic Variants1
  • #9,679of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSCUBE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RUNX2 promotes fibrosis via an alveolar-to-pathological fibroblast transition.
PMID: 39910313
Nature Β· 2025
1.00
2
SCUBE2 mediates bone metastasis of luminal breast cancer by modulating immune-suppressive osteoblastic niches.
PMID: 37142671
Cell Res Β· 2023
0.90
3
PMID: 37237303
0.80
4
SCUBE2, vascular endothelium, and vascular complications: A systematic review.
PMID: 32278240
Biomed Pharmacother Β· 2020
0.70
5
SCUBE2 inhibits the proliferation, migration and invasion of human non-small cell lung cancer cells through regulation of the sonic hedgehog signaling pathway.
PMID: 29883759
Gene Β· 2018
0.60