RASGRP2

RASGRP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MA2
Identifiers
Aliases	RASGRP2 , CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2
External IDs	OMIM: 605577; MGI: 1333849; HomoloGene: 4250; GeneCards: RASGRP2; OMA:RASGRP2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.1 Start 64,726,911 bp [1] End 64,745,456 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte spleen monocyte apex of heart right coronary artery popliteal artery blood tibial arteries lymph node left coronary artery n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding diacylglycerol binding lipid binding guanyl-nucleotide exchange factor activity Cellular component cytoplasm cytosol cell projection membrane plasma membrane synapse ruffle membrane cell junction neuron projection Biological process cellular response to calcium ion intracellular signal transduction small GTPase mediated signal transduction positive regulation of GTPase activity regulation of cell growth Ras protein signal transduction signal transduction regulation of molecular function Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb n/a PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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

The protein encoded by this gene is a brain-enriched nucleotide exchange 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. Bibcode:1998PNAS...9513278K. 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

• Kedra D, Seroussi E, Fransson I, et al. (1997). "The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13". Hum. Genet. 100 (5–6): 611–9. doi:10.1007/s004390050562. PMID   9341881. S2CID   10402419.
• Clyde-Smith J, Silins G, Gartside M, et al. (2000). "Characterization of RasGRP2, a plasma membrane-targeted, dual specificity Ras/Rap exchange factor" (PDF). J. Biol. Chem. 275 (41): 32260–7. doi: 10.1074/jbc.M006087200 . PMID   10918068. S2CID   21096691.
• Guo FF, Kumahara E, Saffen D (2001). "A CalDAG-GEFI/Rap1/B-Raf cassette couples M(1) muscarinic acetylcholine receptors to the activation of ERK1/2". J. Biol. Chem. 276 (27): 25568–81. doi: 10.1074/jbc.M101277200 . PMID   11292831.
• Toki S, Kawasaki H, Tashiro N, et al. (2001). "Guanine nucleotide exchange factors CalDAG-GEFI and CalDAG-GEFII are colocalized in striatal projection neurons". J. Comp. Neurol. 437 (4): 398–407. doi:10.1002/cne.1291. PMID   11503142. S2CID   35740815.
• Eto K, Murphy R, Kerrigan SW, et al. (2002). "Megakaryocytes derived from embryonic stem cells implicate CalDAG-GEFI in integrin signaling". Proc. Natl. Acad. Sci. U.S.A. 99 (20): 12819–24. Bibcode:2002PNAS...9912819E. doi: 10.1073/pnas.202380099 . PMC   130543 . PMID   12239348.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Katagiri K, Shimonaka M, Kinashi T (2004). "Rap1-mediated lymphocyte function-associated antigen-1 activation by the T cell antigen receptor is dependent on phospholipase C-gamma1". J. Biol. Chem. 279 (12): 11875–81. doi: 10.1074/jbc.M310717200 . PMID   14702343.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.

External links

• RASGRP2 human gene location in the UCSC Genome Browser .
• RASGRP2 human gene details in the UCSC Genome Browser .