Recombinant Human SH2B adapter protein 1 (SH2B1)

1. This study is the first to show that neuronal SH2B1, a key protein in insulin signaling, may have a role in the accumulation of Abeta42 in an animal model of Alzheimer's Disease. PMID: 27802221
2. Chromosome microarray analysis was performed on both twins and their parents. An identical 244 kb microdeletion on 16p11.2 including 9 Refseq genes, including SH2B1, was identified in the twins. PMID: 28544142
3. SH2B1 fine-tunes global-local chromatin states. PMID: 28039048
4. SH2B1 and RABEP1 genetic variants are associated with worsening of LDL and glucose parameters in patients treated with psychotropic drugs PMID: 28694205
5. SH2B1 polymorphisms are associated with HbA1c, largely independent of BMI, in European American young adults. PMID: 27530450
6. Results identified SH2B as a functional target of miR-361 which down-regulation suppresses lung cancer progression and metastasis through regulation of SH2B1. PMID: 27164951
7. that SH2B1 is a key positive mediator of pathological cardiac hypertrophy PMID: 26077624
8. Mutation analysis has demonstrated that variation in the SH2B1 gene is frequent in both lean and obese groups, with distinctive variations being present on either side of the weight spectrum. PMID: 26031769
9. The rs7359397 (SH2B1) was associated with the body weight, body mass index, and truncal fat mass reduction. PMID: 25471250
10. We report evidence that the 16p11.2 deletion may influence specific obesity-associated disinhibited eating behaviors PMID: 25234362
11. 4 novel variants in SH2B1 were identified in individuals with obesity and insulin resistance. PMID: 24971614
12. SH2B1 can enhance neurite outgrowth and accelerate the maturation of human induced neurons under defined conditions. PMID: 24736401
13. Data (from in excess of six genetic association studies) suggest that an SNP in SH2B1 (rs4788102) is not associated with abnormal glucose homeostasis in obese subjects of European ancestry. [META-ANALYSIS] PMID: 24103803
14. Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479. PMID: 23121087
15. Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations. PMID: 23640704
16. rare missense mutations of FTO and SH2B1 did not confer risks of obesity in Chinese Han children in our cohort PMID: 23825611
17. The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention. PMID: 23519644
18. Demonstration of the additive effect of four polymorphisms on the LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome risk. PMID: 23054017
19. The rare coding mutation betaThr656Ile/gammaPro674Ser (g.9483C/T) in SH2B1 was exclusively detected in overweight or obese individuals. PMID: 23270367
20. SH2B1 plays a critical role in the control of human food intake and body weight and is implicated in maladaptive human behavior. PMID: 23160192
21. High SH2B1 expression was associated with lymph node metastasis, and recurrence in non-small cell lung cancer. PMID: 22901222
22. The known, obesity related, sh2b1 gene single nucleotide polymorphisms rs4788102 and rs7498665 are associated with plasma triglyceride levels. PMID: 22942098
23. Meta-analysis of 4992 subjects revealed seven SNPs near four loci, including NEGR1, TMEM18, SH2B1 /ATP2A1 and MC4R, showing significant association at 0.005 PMID: 21750520
24. With the current study we were able to replicate and confirm that the SH2B1 gene locus is significantly associated with complex obesity in a Caucasian population. PMID: 22248999
25. Variability at the SH2B1 obesity locus is associated with myocardial infarction in type 2 diabetic patients and with reduced insulin-stimulated nitric oxide synthase activity in human endothelial cells. PMID: 21907990
26. Our results suggest that there is a visceral fat area (VFA)-specific genetic factor and that a polymorphism in the SH2B1 gene influences the risk of visceral fat accumulation. PMID: 21796141
27. Adapter protein SH2B1beta binds filamin A to regulate prolactin-dependent cytoskeletal reorganization and cell motility PMID: 21566085
28. Deletions of the 16p11.2 SH2B1-containing region were identified in 31 patients with developmental delay and obesity. PMID: 20808231
29. SH2-B or APS homodimerization and SH2-B/APS heterodimerization thus provide direct mechanisms for activating and inhibiting Janus kinase 2 PMID: 15767667
30. overexpression of SH2B1beta, by enhancing phosphorylation/activation of RET transducers, potentiates the cellular differentiation and the neoplastic transformation thereby induced, and counteracts the action of RET inhibitors. PMID: 17471236
31. SH2B1beta functions as an adapter protein that cross-links actin filaments, leading to modulation of cellular responses in response to JAK2 activation. PMID: 19342444

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HGNC: 30417

OMIM: 608937

KEGG: hsa:25970

STRING: 9606.ENSP00000321221

UniGene: Hs.15744