CD47

Chr 3

CD47 molecule

Also known as: IAP, MER6, OA3

NCBI Gene: 961 ENSG00000196776 UniProt: Q08722 OMIM: 601028

The protein CD47 is a membrane adhesion protein that serves as a receptor for thrombospondin and modulates integrin signaling, playing roles in cell-to-cell interactions, cardiovascular homeostasis, inflammation, and immunoregulation. Mutations cause autosomal recessive defects affecting multiple systems including hematologic, cardiovascular, and neurologic manifestations. This gene is highly constrained against loss-of-function variants, indicating that complete loss of CD47 function is likely to cause significant clinical effects.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

GeneReviews OMIM 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

808

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.37

LOEUF

Multiple*

Mechanism· predicted

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