THBS2

Chr 6AD

thrombospondin 2

Also known as: EDSCLL3, TSP2

NCBI Gene: 7058 ENSG00000186340 UniProt: P35442 OMIM: 188061

The protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and functions as an inhibitor of angiogenesis. Mutations cause Ehlers-Danlos syndrome, classic-like type 3, which primarily affects connective tissue and increases susceptibility to lumbar disc herniation. The gene is inherited in an autosomal dominant pattern and is highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Ehlers-Danlos syndrome, classic-like, 3MIM #620865

{Lumbar disc herniation, susceptibility to}MIM #603932

UniProtIntervertebral disc disease

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

128

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF· LoF intol.

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Mechanism