SCUBE2 Chromosome 11

Signal peptide, CUB domain and EGF like domain containing 2
1 variant 1 Health Risk

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What This Gene Does
Predicted to enable calcium ion binding activity; hedgehog family protein binding activity; and lipid binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000175356
Associated Conditions (1)
Cerebral arteriovenous malformation
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1555238867 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
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