Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1
Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
STAT5B
IGFBP3
Insulin-like growth factor 1 deficiency
IGF1
Insulin-like growth factor 1 resistance
IGF1R
Insulin-like growth factor 1 transport protein deficiency
IGFALS
Laron syndrome
GHR
SH2B1

References:

1.

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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2.

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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3.

Nelms K et. al. (1999) Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.

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4.

Yousaf N et. al. (2001) Four PSM/SH2-B alternative splice variants and their differential roles in mitogenesis.

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5.

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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6.

Ohtsuka S et. al. (2002) SH2-B is required for both male and female reproduction.

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7.

Duan C et. al. (2004) Disruption of the SH2-B gene causes age-dependent insulin resistance and glucose intolerance.

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8.

Ren D et. al. (2007) Neuronal SH2B1 is essential for controlling energy and glucose homeostasis.

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9.

Carter-Su C et. al. (2016) Growth hormone signaling pathways.

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10.

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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11.

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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12.

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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Update: Sept. 26, 2018