CD226

Chr 18

CD226 molecule

Also known as: DNAM-1, DNAM1, PTA1, TLiSA1

NCBI Gene: 10666 ENSG00000150637 UniProt: Q15762 OMIM: 605397

CD226 encodes a cell surface glycoprotein that mediates cellular adhesion and serves as a costimulatory receptor on NK cells, T cells, platelets, and monocytes, promoting cytotoxic activity against target cells through binding to ligands CD155 and CD112. Mutations cause platelet-type bleeding disorder 11, an autosomal dominant condition characterized by impaired platelet aggregation and bleeding tendencies. The gene shows tolerance to loss-of-function variants, suggesting that some degree of protein reduction may be compatible with normal function in many individuals.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted