Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

external link
2.

Rui L et al. (1997) Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling.

external link
3.

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

external link
4.

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

external link
5.

Kong M et al. (2002) Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

Blandino-Rosano M et al. (2016) 4E-BP2/SH2B1/IRS2 Are Part of a Novel Feedback Loop That Controls β-Cell Mass.

external link
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.

external link
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.

external link
13.

OMIM.ORG article

Omim 608937 external link
14.

Orphanet article

Orphanet ID 293315 external link
15.

NCBI article

NCBI 25970 external link
16.

Wikipedia article

Wikipedia EN (SH2B1) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits