RASGRP2

RAS guanyl-releasing protein 2 is a protein that in humans is encoded by the RASGRP2 gene.[4][5]

RASGRP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDsOMIM: 605577 MGI: 1333849 HomoloGene: 4250 GeneCards: RASGRP2
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q13.1Start64,726,911 bp[1]
End64,745,456 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10235

19395

Ensembl

ENSG00000068831

ENSMUSG00000032946

UniProt

Q7LDG7

Q9QUG9

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
NP_001351991
NP_001351992

Location (UCSC)Chr 11: 64.73 – 64.75 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Clinical significance

Mutations in RASGRP2 are associated with severe bleeding.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000068831 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)".
  6. 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 (7): 1349–62. doi:10.1084/jem.20130477. PMC 4076591. PMID 24958846.

Further reading


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