Clinical significance
edit
Variations close to or in the SH2B1 gene have been found to associate with obesity in two very large genome wide association studies of body mass index (BMI).[ 13] [ 14] [ 15]
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Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C (1997). "Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling" . Mol. Cell. Biol . 17 (11): 6633–44. doi :10.1128/mcb.17.11.6633 . PMC 232517 PMID 9343427 . Kotani K, Wilden P, Pillay TS (1998). "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase" . Biochem. J . 335 (Pt 1): 103–9. doi :10.1042/bj3350103 . PMC 1219757 PMID 9742218 . Qian X, Riccio A, Zhang Y, Ginty DD (1999). "Identification and characterization of novel substrates of Trk receptors in developing neurons" . Neuron . 21 (5): 1017–29. doi :10.1016/S0896-6273(00)80620-0 PMID 9856458 . S2CID 12354383 . Koch A, Mancini A, Stefan M, Niedenthal R, Niemann H, Tamura T (2000). "Direct interaction of nerve growth factor receptor, TrkA, with non-receptor tyrosine kinase, c-Abl, through the activation loop" . FEBS Lett . 469 (1): 72–6. doi :10.1016/S0014-5793(00)01242-4 PMID 10708759 . S2CID 28312468 . Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro" . DNA Res . 7 (1): 65–73. doi :10.1093/dnares/7.1.65 PMID 10718198 . Rui L, Gunter DR, Herrington J, Carter-Su C (2000). "Differential binding to and regulation of JAK2 by the SH2 domain and N-terminal region of SH2-bbeta" . Mol. Cell. Biol . 20 (9): 3168–77. doi :10.1128/MCB.20.9.3168-3177.2000 . PMC 85611 PMID 10757801 . O'Brien KB, O'Shea JJ, Carter-Su C (2002). "SH2-B family members differentially regulate JAK family tyrosine kinases" . J. Biol. Chem . 277 (10): 8673–81. doi :10.1074/jbc.M109165200 PMID 11751854 . Ohtsuka S, Takaki S, Iseki M, Miyoshi K, Nakagata N, Kataoka Y, Yoshida N, Takatsu K, Yoshimura A (2002). "SH2-B is required for both male and female reproduction" . Mol. Cell. Biol . 22 (9): 3066–77. doi :10.1128/MCB.22.9.3066-3077.2002 . PMC 133757 PMID 11940664 . Xie S, Lin H, Sun T, Arlinghaus RB (2002). "Jak2 is involved in c-Myc induction by Bcr-Abl" . Oncogene . 21 (47): 7137–46. doi :10.1038/sj.onc.1205942 PMID 12370803 . Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs" . Genome Res . 12 (11): 1773–84. doi :10.1101/gr.406902 . PMC 187542 PMID 12421765 . O'Brien KB, Argetsinger LS, Diakonova M, Carter-Su C (2003). "YXXL motifs in SH2-Bbeta are phosphorylated by JAK2, JAK1, and platelet-derived growth factor receptor and are required for membrane ruffling" . J. Biol. Chem . 278 (14): 11970–8. doi :10.1074/jbc.M210765200 PMID 12551917 . Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee J, Shoelson SE (2005). "Kinase activation through dimerization by human SH2-B" . Mol. Cell. Biol . 25 (7): 2607–21. doi :10.1128/MCB.25.7.2607-2621.2005 . PMC 1061652 PMID 15767667 . Donatello S, Fiorino A, Degl'Innocenti D, Alberti L, Miranda C, Gorla L, Bongarzone I, Rizzetti MG, Pierotti MA, Borrello MG (2007). "SH2B1beta adaptor is a key enhancer of RET tyrosine kinase signaling" . Oncogene . 26 (45): 6546–59. doi :10.1038/sj.onc.1210480 PMID 17471236 .
