RASGRP2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
RASGRP2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDs MGI: 1333849 HomoloGene: 4250 GeneCards: RASGRP2
RNA expression pattern
PBB GE RASGRP2 208206 s at fs.png

PBB GE RASGRP2 214369 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001098670
NM_001098671
NM_005825
NM_153819
NM_001318398

NM_011242

RefSeq (protein)

NP_001092140
NP_001092141
NP_001305327
NP_722541

NP_035372.2
NP_035372

Location (UCSC) Chr 11: 64.73 – 64.75 Mb Chr 19: 6.4 – 6.42 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

RAS guanyl-releasing protein 2 is a protein that in humans is encoded by the RASGRP2 gene.[3][4]

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.[4]

Clinical significance[edit]

Mutations in RASGRP2 are associated with severe bleeding .[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 23782Freely accessible. PMID 9789079. 
  4. ^ a b "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)". 
  5. ^ 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. PMID 24958846. 

Further reading[edit]

External links[edit]