Property Summary

NCBI Gene PubMed Count 62
PubMed Score 59.81
PubTator Score 59.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.700 6.7e-05
osteosarcoma 1.049 5.2e-04

Protein-protein Interaction (2)

Gene RIF (46)

PMID Text
26077624 that SH2B1 is a key positive mediator of pathological cardiac hypertrophy
26031769 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.
25471250 The rs7359397 (SH2B1) was associated with the body weight, body mass index, and truncal fat mass reduction.
25234362 We report evidence that the 16p11.2 deletion may influence specific obesity-associated disinhibited eating behaviors
24971614 4 novel variants in SH2B1 were identified in individuals with obesity and insulin resistance.
24736401 SH2B1 can enhance neurite outgrowth and accelerate the maturation of human induced neurons under defined conditions.
24621099 This study highlighted the importance of two candidate genes, SH2B1 and FAIM2, in the risk of overweight/obesity.
24103803 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]
23825611 rare missense mutations of FTO and SH2B1 did not confer risks of obesity in Chinese Han children in our cohort
23640704 Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations.
23519644 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.
23270367 The rare coding mutation betaThr656Ile/gammaPro674Ser (g.9483C/T) in SH2B1 was exclusively detected in overweight or obese individuals.
23190452 Studies indicate that insulin receptor (IR) and IGF Type 1 Receptor (IGFR) have been identified as important partners of Grb10/14 and SH2B1/B2 adaptors.
23160192 SH2B1 plays a critical role in the control of human food intake and body weight and is implicated in maladaptive human behavior.
23121087 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.
23054017 Demonstration of the additive effect of four polymorphisms on the LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome risk.
22942098 The known, obesity related, sh2b1 gene single nucleotide polymorphisms rs4788102 and rs7498665 are associated with plasma triglyceride levels.
22901222 High SH2B1 expression was associated with lymph node metastasis, and recurrence in non-small cell lung cancer.
22443470 Our study supports earlier reports of SH2B1 to be of importance in insulin sensitivity and, in addition, suggests potential roles of NEGR1 and MTCH2.
22248999 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.
21907990 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.
21796141 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.
21750520 Meta-analysis of 4992 subjects revealed seven SNPs near four loci, including NEGR1, TMEM18, SH2B1 /ATP2A1 and MC4R, showing significant association at 0.005
21566085 Adapter protein SH2B1beta binds filamin A to regulate prolactin-dependent cytoskeletal reorganization and cell motility
21045733 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20816195 Observational study of gene-disease association. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20808231 Deletions of the 16p11.2 SH2B1-containing region were identified in 31 patients with developmental delay and obesity.
20725061 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20724581 Observational study of gene-disease association. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20616199 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20386550 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20215397 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19910938 Observational study of gene-disease association. (HuGE Navigator)
19851340 Observational study of gene-disease association. (HuGE Navigator)
19746409 Observational study of gene-disease association. (HuGE Navigator)
19692490 Observational study of gene-disease association. (HuGE Navigator)
19342444 SH2B1beta functions as an adapter protein that cross-links actin filaments, leading to modulation of cellular responses in response to JAK2 activation.
19164386 Observational study of gene-disease association. (HuGE Navigator)
19079261 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19079260 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17471236 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.
17228025 Observational study of gene-disease association. (HuGE Navigator)
15767667 SH2-B or APS homodimerization and SH2-B/APS heterodimerization thus provide direct mechanisms for activating and inhibiting Janus kinase 2

AA Sequence

MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAE      1 - 70
LFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSS     71 - 140
STTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVG    141 - 210
RGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSG    211 - 280
GGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEG    281 - 350
PSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPS    351 - 420
QDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPL    421 - 490
SAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETR    491 - 560
RGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQR    561 - 630
QQEPTTSHDPPQPPEPPSWTDPPQPGAEEASRAPEVAAAAAAAAKERQEKEKAGGGGVPEELVPVVELVP    631 - 700
VVELEEAIAPGSEAQGAGSGGDAGVPPMVQLQQSPLGGDGEEGGHPRAINNQYSFV                  701 - 756
//

Text Mined References (76)

PMID Year Title
26077624 2015 SH2B1 is critical for the regulation of cardiac remodelling in response to pressure overload.
26031769 2015 Genetic and structural variation in the SH2B1 gene in the Belgian population.
25471250 2015 SH2B1 CpG-SNP is associated with body weight reduction in obese subjects following a dietary restriction program.
25234362 2014 Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24971614 2014 Functional characterization of obesity-associated variants involving the ? and ? isoforms of human SH2B1.
24736401 2014 Signaling adaptor protein SH2B1 enhances neurite outgrowth and accelerates the maturation of human induced neurons.
24658140 2014 The mammalian-membrane two-hybrid assay (MaMTH) for probing membrane-protein interactions in human cells.
24621099 2014 Meta-analyses between 18 candidate genetic markers and overweight/obesity.
24396070 2014 SH2B1? interacts with STAT3 and enhances fibroblast growth factor 1-induced gene expression during neuronal differentiation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24103803 2013 The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry.
23825611 2013 Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.
23640704 2013 Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23519644 2013 Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention.
23270367 2012 Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.
23190452 2013 Regulation of insulin and type 1 insulin-like growth factor signaling and action by the Grb10/14 and SH2B1/B2 adaptor proteins.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23160192 2012 Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
23121087 2013 Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.
23054017 2013 The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan.
22942098 2012 Polymorphisms in sh2b1 and spns1 loci are associated with triglyceride levels in a healthy population in northern Sweden.
22901222 2012 Clinical significance of SH2B1 adaptor protein expression in non-small cell lung cancer.
22443470 2012 The role of obesity-related genetic loci in insulin sensitivity.
22248999 2011 Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population.
21907990 2011 The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells.
21796141 2011 Computed tomography analysis of the association between the SH2B1 rs7498665 single-nucleotide polymorphism and visceral fat area.
21750520 2012 Implication of European-derived adiposity loci in African Americans.
21566085 2011 Adapter protein SH2B1beta binds filamin A to regulate prolactin-dependent cytoskeletal reorganization and cell motility.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
21045733 2011 Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20808231 2010 Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
20725061 2011 MC4R variant is associated with BMI but not response to resistance training in young females.
20724581 2010 Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20616199 2010 Evaluation of genetic susceptibility loci for obesity in Chinese women.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20386550 2010 Genes and lifestyle factors in obesity: results from 12,462 subjects from MONICA/KORA.
20215397 2010 Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese.
19910938 2010 Novel obesity risk loci do not determine distribution of body fat depots: a whole-body MRI/MRS study.
19851340 2009 Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.
19746409 2010 Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa?
19692490 2009 Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference.
19342444 2009 Adapter protein SH2B1beta cross-links actin filaments and regulates actin cytoskeleton.
19293402 2009 Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F.
19164386 2009 Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
19079261 2009 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17471236 2007 SH2B1beta adaptor is a key enhancer of RET tyrosine kinase signaling.
17228025 2007 The SH2B gene is associated with serum leptin and body fat in normal female twins.
16569669 2006 Interaction of SH2-Bbeta with RET is involved in signaling of GDNF-induced neurite outgrowth.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16273093 2006 A quantitative protein interaction network for the ErbB receptors using protein microarrays.
15767667 2005 Kinase activation through dimerization by human SH2-B.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14565960 2004 SH2-B is a positive regulator of nerve growth factor-mediated activation of the Akt/Forkhead pathway in PC12 cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
11940664 2002 SH2-B is required for both male and female reproduction.
11827956 2002 Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.
11751854 2002 SH2-B family members differentially regulate JAK family tyrosine kinases.
10718198 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.
10594240 1999 Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.
9742218 1998 SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.
9694882 1998 Platelet-derived growth factor (PDGF) stimulates the association of SH2-Bbeta with PDGF receptor and phosphorylation of SH2-Bbeta.
9498552 1997 PSM, an insulin-dependent, pro-rich, PH, SH2 domain containing partner of the insulin receptor.