Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.
| RefSeq Version | NM_016363.4, 143770754 |
| Length | 2264 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA. |
| Product | platelet glycoprotein VI isoform 2 |
| Comment | Summary: Glycoprotein VI (GP6) is a 58-kD platelet membrane glycoprotein that plays a crucial role in the collagen-induced activation and aggregation of platelets. Upon injury to the vessel wall and subsequent damage to the endothelial lining, exposure of the subendothelial matrix to blood flow results in deposition of platelets. Collagen fibers are the most thrombogenic macromolecular components of the extracellular matrix, with collagen types I, III, and VI being the major forms found in blood vessels. Platelet interaction with collagen occurs as a 2-step procedure: (1) the initial adhesion to collagen is followed by (2) an activation step leading to platelet secretion, recruitment of additional platelets, and aggregation. In physiologic conditions, the resulting platelet plug is the initial hemostatic event limiting blood loss. However, exposure of collagen after rupture of atherosclerotic plaques is a major stimulus of thrombus formation associated with myocardial infarction or stroke (Jandrot-Perrus et al., 2000 [PubMed 10961879]).[supplied by OMIM]. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1. |
| RefSeq | NP_057447.4 |
| CDS | 29..1048 | Exon (1) | 1..62 | Exon (2) | 1..62 | Exon (3) | 63..95 | Exon (4) | 96..353 | Exon (5) | 354..638 | Exon (6) | 639..692 | Exon (7) | 693..752 | Exon (8) | 753..803 | Exon (9) | 804..2264 |
| Translation | MSPSPTALFCLGLCLGRVPAQSGPLPKPSLQALPSSLVPLEKPVTLRCQGPPGVDLYRLE
KLSSSRYQDQAVLFIPAMKRSLAGRYRCSYQNGSLWSLPSDQLELVATGVFAKPSLSAQP
GPAVSSGGDVTLQCQTRYGFDQFALYKEGDPAPYKNPERWYRASFPIITVTAAHSGTYRC
YSFSSRDPYLWSAPSDPLELVVTGTSVTPSRLPTEPPSPVAEFSEATAELTVSFTNEVFT
TETSRSITASPKESDSPAGPARQYYTKGNLVRICLGAVILIILAGFLAEDWHSRRKRLRH
RGRAVQRPLPPLPPLPQTRKSHGGQDGGRQDVHSRGLCS
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| Position | Chain | Variation | Link |
| 43 | + | a, g | dbSNP:28385642 |
| 125 | + | c, t | dbSNP:28385643 |
| complement(165) | - | g, a | dbSNP:113219102 |
| 247 | + | c, t | dbSNP:28385644 |
| 265 | + | a, g | dbSNP:28385645 |
| 335 | + | c, t | dbSNP:28969501 |
| complement(354) | - | t, c | dbSNP:41311975 |
| complement(391) | - | g, c | dbSNP:79133006 |
| complement(418) | - | t, a | dbSNP:115934645 |
| complement(512) | - | t, g | dbSNP:892090 |
| complement(523) | - | g, a | dbSNP:892089 |
| 535 | + | a, g | dbSNP:5030705 |
| complement(596) | - | g, c | dbSNP:41300084 |
| complement(601) | - | g, c | dbSNP:41301959 |
| complement(604) | - | t, c | dbSNP:1654425 |
| complement(683) | - | g, a | dbSNP:1613662 |
| complement(737) | - | t, c | dbSNP:1654416 |
| complement(773) | - | t, c | dbSNP:2304167 |
| complement(856) | - | t, c | dbSNP:60843302 |
| complement(964) | - | g, c | dbSNP:2304166 |
| complement(978) | - | t, a | dbSNP:1654413 |
| complement(992) | - | t, g | dbSNP:1671152 |
| complement(995) | - | t, c | dbSNP:80348265 |
| complement(1215..1216) | - | , gaca | dbSNP:59110861 |
| complement(1216) | - | , gaca | dbSNP:80098651 |
| complement(1223..1224) | - | , agac | dbSNP:71916377 |
| complement(1230..1233) | - | , caga | dbSNP:113550298 |
| complement(1311) | - | t, c | dbSNP:74697203 |
| complement(1443) | - | g, a | dbSNP:1671151 |
| complement(1519) | - | t, c | dbSNP:41275822 |
| complement(1741) | - | t, c | dbSNP:1654412 |
| complement(1751) | - | t, c | dbSNP:10418074 |
| complement(1813) | - | t, g | dbSNP:115459014 |
| 1829 | + | c, t | dbSNP:2886416 |
| complement(1840) | - | g, a | dbSNP:1671150 |
| complement(1911) | - | t, g | dbSNP:76129219 |
| complement(1949) | - | t, g | dbSNP:10417981 |
| complement(2000) | - | g, a | dbSNP:10417943 |
| complement(2222) | - | g, a | dbSNP:41275820 |
| Gene Symbol | GP6 |
| Gene Synonym | GPIV; GPVI; MGC138168 |
| Chromosome | 19 |
| Locus Map | 19q13.4 |
| All Transcripts | NM_016363 , NM_001083899 |
| Title | Soluble glycoprotein VI is raised in the plasma of patients with acute ischemic stroke . |
| Author | Al-Tamimi,M., Gardiner,E.E., Thom,J.Y., Shen,Y., Cooper,M.N., Hankey,G.J., Berndt,M.C., Baker,R.I. and Andrews,R.K. |
| Journal | Stroke 42 (2), 498-500 (2011) |
| Title | The minor allele of GP6 T13254C is associated with decreased platelet activation and a reduced risk of recurrent cardiovascular events and mortality: results from the SMILE-Platelets project . |
| Author | Snoep,J.D., Gaussem,P., Eikenboom,J.C., Emmerich,J., Zwaginga,J.J., Holmes,C.E., Vos,H.L., de Groot,P.G., Herrington,D.M., Bray,P.F., Rosendaal,F.R. and van der Bom,J.G. |
| Journal | J. Thromb. Haemost. 8 (11), 2377-2384 (2010) |
| Title | Roles of Src-like adaptor protein 2 (SLAP-2) in GPVI-mediated platelet activation SLAP-2 and GPVI signaling . |
| Author | Sugihara,S., Katsutani,S., Deckmyn,H., Fujimura,K. and Kimura,A. |
| Journal | Thromb. Res. 126 (4), E276-E285 (2010) |
| Title | Platelet gene polymorphisms and risk of bleeding in patients undergoing elective coronary angiography: a genetic substudy of the PRAGUE-8 trial . |
| Author | Motovska,Z., Kvasnicka,J., Hajkova,J., Kala,P., Simek,S., Bobcikova,P., Petr,R., Bilkova,D., Poloczek,M., Miklik,R., Fischerova,M., Maly,M. and Widimsky,P. |
| Journal | Atherosclerosis 212 (2), 548-552 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Platelet activation and signal transduction by convulxin, a C-type lectin from Crotalus durissus terrificus (tropical rattlesnake) venom via the p62/GPVI collagen receptor . |
| Author | Polgar,J., Clemetson,J.M., Kehrel,B.E., Wiedemann,M., Magnenat,E.M., Wells,T.N. and Clemetson,K.J. |
| Journal | J. Biol. Chem. 272 (21), 13576-13583 (1997) |
| Title | A collagen-like peptide stimulates tyrosine phosphorylation of syk and phospholipase C gamma2 in platelets independent of the integrin alpha2beta1 . |
| Author | Asselin,J., Gibbins,J.M., Achison,M., Lee,Y.H., Morton,L.F., Farndale,R.W., Barnes,M.J. and Watson,S.P. |
| Journal | Blood 89 (4), 1235-1242 (1997) |
| Title | Syk, activated by cross-linking the B-cell antigen receptor, localizes to the cytosol where it interacts with and phosphorylates alpha-tubulin on tyrosine . |
| Author | Peters,J.D., Furlong,M.T., Asai,D.J., Harrison,M.L. and Geahlen,R.L. |
| Journal | J. Biol. Chem. 271 (9), 4755-4762 (1996) |
| Title | Membrane glycoprotein IV (CD36) is physically associated with the Fyn, Lyn, and Yes protein-tyrosine kinases in human platelets . |
| Author | Huang,M.M., Bolen,J.B., Barnwell,J.W., Shattil,S.J. and Brugge,J.S. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 88 (17), 7844-7848 (1991) |
| Title | A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion . |
| Author | Moroi,M., Jung,S.M., Okuma,M. and Shinmyozu,K. |
| Journal | J. Clin. Invest. 84 (5), 1440-1445 (1989) |
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