RASGRP2

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RAS guanyl releasing protein 2 (calcium and DAG-regulated)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RASGRP2 ; CALDAG-GEFI; CDC25L
External IDs OMIM605577 MGI1333849 HomoloGene4250 GeneCards: RASGRP2 Gene
RNA expression pattern
PBB GE RASGRP2 214369 s at tn.png
PBB GE RASGRP2 208206 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10235 19395
Ensembl ENSG00000068831 ENSMUSG00000032946
UniProt Q7LDG7 Q9QUG9
RefSeq (mRNA) NM_001098670 NM_011242
RefSeq (protein) NP_001092140 NP_035372
Location (UCSC) Chr 11:
64.49 – 64.51 Mb
Chr 19:
6.4 – 6.42 Mb
PubMed search [1] [2]

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[edit]

Mutations in RASGRP2 are associated to severe bleeding .[3]

References[edit]

  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. ^ a b "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. doi:10.1084/jem.20130477. PMID 24958846.  edit

Further reading[edit]

External links[edit]