RASGRP2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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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 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. 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

  1. Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel JP, Chen EJ, Bany IA, Mochizuki N, Ashbacher A, Matsuda M, Housman DE, Graybiel AM (Nov 1998). "A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia". Proc Natl Acad Sci U S A. 95 (22): 13278–83. doi:10.1073/pnas.95.22.13278. PMC 23782. PMID 9789079.
  2. 2.0 2.1 "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)".
  3. Canault, M; Ghalloussi, D; Grosdidier, C; Guinier, M; Perret, C; Chelghoum, N; Germain, M; Raslova, H; Peiretti, F; Morange, P. E.; Saut, N; Pillois, X; Nurden, A. T.; Cambien, F; Pierres, A; Van Den Berg, T. K.; Kuijpers, T. W.; Alessi, M. C.; Tregouet, D. A. (2014). "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding". Journal of Experimental Medicine. 211: 1349–62. doi:10.1084/jem.20130477. PMC 4076591. PMID 24958846.

Further reading

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