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we here describe a novel mutation in RASGRP2 that affects both expression and function of CalDAG-GEFI and that causes impaired platelet adhesive function and significant bleeding in humans.
Eleven cases with unexplained bleeding or platelet disorders harbored 11 different, previously unreported RASGRP2 variants that were biallelic and likely pathogenic.
These patients are the first cases of a CalDAG-GEFI deficiency due to homozygous RASGRP2 mutations that are linked to defects in both leukocyte and platelet integrin activation.
These studies identify RasGRP2 as a novel substrate of ERK1/2 and define a negative-feedback loop that regulates the BRaf-MEK-ERK signaling cascade. This negative-feedback loop determines the amplitude and duration of active ERK1/2.
RasGRP2 is exceptional in that its C1 domain has very weak binding affinity (Kd = 2890 +/- 240 nm for [(3)H]phorbol 12,13-dibutyrate. We have identified four amino acid residues responsible for this lack of sensitivity. Replacing Asn(7), Ser(8), Ala(19), and Ile(21) with the corresponding residues from RasGRP1/3 (Thr(7), Tyr(8), Gly(19), and Leu(21), respectively) conferred potent binding affinity (Kd = 1.47 +/- 0.03 nm).
Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.
phosphorylation of CalDAG-GEFI is a critical mechanism by which PKA controls Rap1b-dependent platelet aggregation
RasGRP2 increases cell viability and cell-matrix adhesion through increased Ras expression and Rap1 activation, respectively, in endothelial cells.
NIH3T3 cells were found nonpermissive to mtHSV but they became permissive following transformation with the Rasgrp2 gene. This effect was linked to the activation of the Ras-PKR signaling pathway.
analyzed the 5'-flanking region of rasgrp2 gene by a luciferase assay, which revealed that not only a promoter but also silencer regions were present upstream of D1E, suggesting rasgrp2 expression is controlled by a combination of promotion and repression
CalDAG-GEFI plays a role in inside-out signaling to alphaIIbbeta3
this amino acid substitution is likely responsible for the thrombopathic phenotype observed in Simmental cattle and underscores the critical nature of this signal transduction protein in platelets
The protein encoded by this gene is a brain-enriched nucleotide exchanged 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. Three alternatively spliced transcript variants encoding the same protein have been found for this gene.
RAS guanyl releasing protein 2
, RAS guanyl releasing protein 2, isoform 3
, F25B3.3 kinase-like protein
, RAS guanyl nucleotide-releasing protein 2
, RAS guanyl-releasing protein 2
, calcium and DAG-regulated guanine nucleotide exchange factor I
, calcium and diacylglycerol-regulated guanine nucleotide exchange factor I
, cdc25-like protein
, guanine exchange factor MCG7
, RAS, guanyl releasing protein 2
, calcium diacylglycerol guanine nucleotide exchange factor I
, F25B3.3 kinase like protein
, RAP 1A protein-specific guanine nucleotide exchange factor 1
, RAS, guanyl releasing protein 2; RAP 1A protein-specific guanine nucleotide exchange factor 1; CalDAG-GEFI