// Workers AI · dad joke modeDoes RASGRP2 have friends? It has a group.
| RASGRP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RASGRP2, CALDAG-GEFI, CDC25L, RAS guanyl releasing protein 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605577; MGI: 1333849; GeneCards: RASGRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
[edit]Mutations in RASGRP2 are associated with severe bleeding.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000068831 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Kawasaki H, Springett GM, Toki S, Canales JJ, Harlan P, Blumenstiel JP, et al. (November 1998). "A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia". Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13278–13283. Bibcode:1998PNAS...9513278K. doi:10.1073/pnas.95.22.13278. PMC 23782. PMID 9789079.
- 1 2 "Entrez Gene: RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)".
- ↑ Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, et al. (June 2014). "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding". The Journal of Experimental Medicine. 211 (7): 1349–1362. doi:10.1084/jem.20130477. PMC 4076591. PMID 24958846.
Further reading
[edit]- Kedra D, Seroussi E, Fransson I, Trifunovic J, Clark M, Lagercrantz J, et al. (October 1997). "The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13". Human Genetics. 100 (5–6): 611–619. doi:10.1007/s004390050562. PMID 9341881. S2CID 10402419.
- Clyde-Smith J, Silins G, Gartside M, Grimmond S, Etheridge M, Apolloni A, et al. (October 2000). "Characterization of RasGRP2, a plasma membrane-targeted, dual specificity Ras/Rap exchange factor". The Journal of Biological Chemistry. 275 (41): 32260–32267. 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". The Journal of Biological Chemistry. 276 (27): 25568–25581. doi:10.1074/jbc.M101277200. PMID 11292831.
- Toki S, Kawasaki H, Tashiro N, Housman DE, Graybiel AM (September 2001). "Guanine nucleotide exchange factors CalDAG-GEFI and CalDAG-GEFII are colocalized in striatal projection neurons". The Journal of Comparative Neurology. 437 (4): 398–407. doi:10.1002/cne.1291. PMID 11503142. S2CID 35740815.
- Eto K, Murphy R, Kerrigan SW, Bertoni A, Stuhlmann H, Nakano T, et al. (October 2002). "Megakaryocytes derived from embryonic stem cells implicate CalDAG-GEFI in integrin signaling". Proceedings of the National Academy of Sciences of the United States of America. 99 (20): 12819–12824. Bibcode:2002PNAS...9912819E. doi:10.1073/pnas.202380099. PMC 130543. PMID 12239348.
- 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". The Journal of Biological Chemistry. 279 (12): 11875–11881. doi:10.1074/jbc.M310717200. PMID 14702343.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
External links
[edit]- RASGRP2 human gene location in the UCSC Genome Browser.
- RASGRP2 human gene details in the UCSC Genome Browser.
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