THBS2
Function
Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties.
Involvement in disease
Intervertebral disc disease
IDD
A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Ehlers-Danlos syndrome, classic-like, 3
EDSCLL3
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL3 is an autosomal dominant form. Affected individuals have joint hypermobility, frequent joint dislocations, atrophic scarring, prolonged bleeding time and age-related aortic dilatation and rupture.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the thrombospondin family.
Tissue Specificity
High expression in invertebral disk tissue.
Alternative names
TSP2, THBS2, Thrombospondin-2