THBS2 Chromosome 6
Thrombospondin 2
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What This Gene Does
The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Thrombospondin family
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000186340
Associated Conditions (6)
Lumbar disk herniation
susceptibility to
THBS2-related disorder
Ehlers-Danlos syndrome
classic-like
3
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS9406328 | Health Risk | Benign; risk factor | Lumbar disk herniation, susceptibility to, THBS2-related disorder |
| RS148970069 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2483451503 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, classic-like, 3 |