RASGRP2
Template:Short description Template:Infobox gene RAS guanyl-releasing protein 2 is a protein that in humans is encoded by the RASGRP2 gene.[1][2]
The protein encoded by this gene is a brain-enriched nucleotide exchange factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Two alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been reported.[2]
Clinical significance
Mutations in RASGRP2 are associated with severe bleeding.[3]
References
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Further reading
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