THSD7A

Chr 7

thrombospondin type 1 domain containing 7A

NCBI Gene: 221981 ENSG00000005108 UniProt: Q9UPZ6

The THSD7A protein inhibits endothelial cell migration and tube formation through interactions with integrin and paxillin, and plays a role in actin cytoskeleton rearrangement. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.215), indicating that haploinsufficiency is likely not tolerated.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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