SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene. [5] [6] [7]

Dec 25, 2024 · SH2B1 (SH2B Adaptor Protein 1) is a Protein Coding gene. Diseases associated with SH2B1 include Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency and Chromosome 16P11.2 Deletion Syndrome, 220-Kb. Among its related pathways are Growth hormone receptor signaling and Cytokine Signaling in Immune system.

Jan 4, 2025 · SH2B1 polymorphisms are associated with HbA1c, largely independent of BMI, in European American young adults. Results identified SH2B as a functional target of miR-361 which down-regulation suppresses lung cancer progression and …

SH2B1 promotes insulin signaling by both enhancing insulin receptor catalytic activity and protecting against dephosphorylation of IRS proteins. Accordingly, genetic deletion of SH2B1 results in severe leptin resistance, insulin resistance, hyperphagia, obesity, and type 2 …

Mar 23, 2020 · Here, we uncover Sh2b1 in leptin receptor (LepR) neurons as a critical component of a SNS/brown adipose tissue (BAT)/thermogenesis axis. LepR neuron-specific deletion of Sh2b1 abrogates...

SH2B1 encodes an adaptor protein that has been implicated in the enhancement of RET activity. These findings highlight the role of RET for kidney organogenesis, not only in biological systems but also in human disease.

Jun 17, 2024 · SH2B1 is a SH2 domain-containing protein and mediates cell signaling in response to various growth factors, hormones, and cytokines, including growth hormone, insulin, leptin, platelet-derived growth factor, nerve growth factor (NGF), and …

Nov 2, 2024 · Signaling adaptor protein SH2B1 enhances neurite outgrowth and accelerates the maturation of human induced neurons. Hsu YC, Chen SL, Wang YJ, Chen YH, Wang DY, Chen L, Chen CH, Chen HH, Chiu IMHsu YC, et al. Stem Cells Transl Med, 2014 Jun. PMID 24736401

SH2B1 is an SH2 domain-containing adaptor protein that plays a key role in the regulation of energy and glucose metabolism in both rodents and humans. Genetic deletion of SH2B1 in mice results in obesity and type 2 diabetes.

We identified SH2B1 loss-of-function mutations in a large cohort of patients with severe early-onset obesity. Mutation carriers exhibited hyperphagia, childhood-onset obesity, disproportionate insulin resistance, and reduced final height as adults.

Aug 15, 2014 · SH2B1 promotes insulin signaling by both enhancing insulin receptor catalytic activity and protecting against dephosphorylation of IRS proteins. Accordingly, genetic deletion of SH2B1 results in severe leptin resistance, insulin resistance, hyperphagia, obesity, and type 2 diabetes in mice.

The SH2B1 gene encodes for the adaptor protein SH2B1; SH2B1 enhances activation of LEPR downstream signaling pathways through JAK2 activation; Impaired SH2B1 activity/expression leads to insufficient LEPR activity

SH2B1 is an SH2 domain-containing adaptor protein. It enhances the activation of the Janus tyrosine kinase 2 (JAK2)/signal transducer and activator of transcription and the phosphatidylinositol 3-kinase pathways in response to a verity of hormones, growth factors, and cytokines. Here we identify SH2B1 as a new regulator of insulin expression.

Aug 22, 2019 · Disruption of the adaptor protein SH2B1 (SH2-B, PSM) is associated with severe obesity, insulin resistance, and neurobehavioral abnormalities in mice and humans. Here, we identify 15 SH2B1 variants in severely obese children.

Mar 13, 2023 · Human variants of the adapter protein SH2B1 are associated with severe childhood obesity, hyperphagia, and insulin resistance-phenotypes mimicked by mice lacking Sh2b1. SH2B1β and γ isoforms are expressed ubiquitously, whereas SH2B1α and δ isoforms are expressed primarily in the brain.

SH2B1 (previously named SH2-B), a cytoplasmic adaptor protein, binds via its Src homology 2 (SH2) domain to a variety of protein tyrosine kinases, including JAK2 and the insulin receptor. SH2B1-deficient mice are obese and diabetic.

The SH2B1 −/− mice illustrate the importance of SH2B1 as a positive regulator of JAK2 signaling by the leptin receptor, as well as signaling by the insulin receptor and most likely IGF-I receptor, and possibly the GH receptor. Decreased levels of SH2B1 are associated with leptin and insulin resistance, resulting in obesity and diabetes.

Dec 3, 2012 · We identified SH2B1 loss-of-function mutations in a large cohort of patients with severe early-onset obesity. Mutation carriers exhibited hyperphagia, childhood-onset obesity, disproportionate insulin resistance, and reduced final height as adults.

May 5, 2010 · SH2B1 is a key regulator of body weight in mammals. Here, we identified dSH2B as the Drosophila homolog of SH2B1. dSH2B bound to Chico and directly promoted insulin-like signaling.

SH2B1 is an endogenous insulin sensitizer; it directly binds to insulin receptors, IRS-1 and IRS-2, and enhances insulin sensitivity; an essential role of the SH2B1 variants in the activation of the Src kinase and the resulting mitogenic response--extending to phenotypic cell transformation and involving the established Src substrate STAT3