SH2B adapter protein 1
The SH2B1 gene encodes a regulatory protein that interacts with various kinases. A regulatory function is demonstrated with the internal signal transduction of the growth hormone and the regulation of insulin secretion.
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References:
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Nagase T et al. (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.
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Rui L et al. (1997) Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling.
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Nelms K et al. (1999) Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.
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Yousaf N et al. (2001) Four PSM/SH2-B alternative splice variants and their differential roles in mitogenesis.
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Kong M et al. (2002) Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.
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Ohtsuka S et al. (2002) SH2-B is required for both male and female reproduction.
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Duan C et al. (2004) Disruption of the SH2-B gene causes age-dependent insulin resistance and glucose intolerance.
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Ren D et al. (2007) Neuronal SH2B1 is essential for controlling energy and glucose homeostasis.
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Carter-Su C et al. (2016) Growth hormone signaling pathways.
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Blandino-Rosano M et al. (2016) 4E-BP2/SH2B1/IRS2 Are Part of a Novel Feedback Loop That Controls β-Cell Mass.
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Lange LA et al. (2016) Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.
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Delacrétaz A et al. (2017) Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.
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OMIM.ORG article
Omim 608937
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Orphanet article
Orphanet ID 293315
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NCBI article
NCBI 25970
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Wikipedia article
Wikipedia EN (SH2B1)
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Update: Aug. 14, 2020