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    SH2B1 SH2B adaptor protein 1 [ Homo sapiens (human) ]

    Gene ID: 25970, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.

    The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
    Huang T, Zhang X, Li Q, Li X, Yao J, Song J, Chen Y, Ye L, Li C, Xiran P, Wen Y.

    08/15/2024
    Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

    Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
    Hanssen R, Auwerx C, Jõeloo M, Sadler MC, Estonian Biobank Research Team, Henning E, Keogh J, Bounds R, Smith M, Firth HV, Kutalik Z, Farooqi IS, Reymond A, Lawler K., Free PMC Article

    08/19/2023
    SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.

    SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
    da Fonseca ACP, Assis ISS, Salum KCR, Palhinha L, Abreu GM, Zembrzuski VM, Campos Junior M, Nogueira Neto JF, Mattos FCC, Cambraia A, Rosado EL, Maya-Monteiro CM, Cabello PH, Carneiro JRI, Bozza PT.

    01/7/2023
    Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.

    Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.
    Giannopoulou EZ, Zorn S, Schirmer M, Herrmann G, Heger S, Reinehr T, Denzer C, Rabenstein H, Hillmer M, Sowada N, Siebert R, von Schnurbein J, Wabitsch M.

    06/25/2022
    BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.

    BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.
    Liu J, Zhu J, Xiao Z, Wang X, Luo J., Free PMC Article

    05/14/2022
    Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.

    Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.
    Wu B, Ren A, Tian Y, Huang R., Free PMC Article

    11/6/2021
    Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.

    Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.
    Perez-Diaz-Del-Campo N, Abete I, Cantero I, Marin-Alejandre BA, Monreal JI, Elorz M, Herrero JI, Benito-Boillos A, Riezu-Boj JI, Milagro FI, Tur JA, Martinez JA, Zulet MA., Free PMC Article

    04/17/2021
    Mice with LepR neuron-specific or adult-onset, hypothalamus-specific ablation of Sh2b1 develop obesity, insulin resistance, and liver steatosis. Hypothalamic overexpression of human SH2B1 protects against high fat diet-induced obesity and metabolic syndromes. Results unravel an unrecognized LepR neuron Sh2b1/ sympathetic nervous system/brown adipose tissue /thermogenesis axis that combats obesity and metabolic disease.

    Leptin receptor-expressing neuron Sh2b1 supports sympathetic nervous system and protects against obesity and metabolic disease.
    Jiang L, Su H, Wu X, Shen H, Kim MH, Li Y, Myers MG Jr, Owyang C, Rui L., Free PMC Article

    07/25/2020
    provide a mini overview of the roles of SH2B1 in cancer.

    New perspective on SH2B1: An accelerator of cancer progression.
    Cheng Y, Duan C, Zhang C.

    06/6/2020
    Hsa_circ_0136666 promotes the proliferation and invasion of colorectal cancer through miR-136/SH2B1 axis.

    Hsa_circ_0136666 promotes the proliferation and invasion of colorectal cancer through miR-136/SH2B1 axis.
    Jin C, Wang A, Liu L, Wang G, Li G.

    04/4/2020
    These studies demonstrate that the PH domain plays a crucial role in how SH2B1 controls energy balance and glucose homeostasis.

    Crucial Role of the SH2B1 PH Domain for the Control of Energy Balance.
    Flores A, Argetsinger LS, Stadler LKJ, Malaga AE, Vander PB, DeSantis LC, Joe RM, Cline JM, Keogh JM, Henning E, Barroso I, Mendes de Oliveira E, Chandrashekar G, Clutter ES, Hu Y, Stuckey J, Farooqi IS, Myers MG Jr, Carter-Su C., Free PMC Article

    03/21/2020
    The increased expression of genes in leptin (JAK/STAT or AKT) signaling implies that the main mode of action for human SH2B1 mutations might affect leptin signaling rather than insulin signaling.

    The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.
    Giuranna J, Volckmar AL, Heinen A, Peters T, Schmidt B, Spieker A, Straub H, Grallert H, Müller TD, Antel J, Haußmann U, Klafki H, Rui L, Hebebrand J, Hinney A., Free PMC Article

    09/7/2019
    The high-resolution structure of the SH2 domain of SH2B1 further reveals conformationally plastic protein loops that may contribute to the ability of the protein to recognize dissimilar ligands. Together, numerous hydrophobic and electrostatic interactions, in addition to backbone conformational flexibility, permit the recognition of diverse peptides by SH2B1.

    Diversity in peptide recognition by the SH2 domain of SH2B1.
    McKercher MA, Guan X, Tan Z, Wuttke DS.

    06/29/2019
    Copy number variations in SH2B1 gene is associated with distal syndromes with intellectual disability.

    The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.
    Gimeno-Ferrer F, Albuquerque D, Guzmán Luján C, Marcaida Benito G, Torreira Banzas C, Repáraz-Andrade A, Ballesteros Cogollos V, Aleu Pérez-Gramunt M, Galán Gómez E, Quintela I, Rodríguez-López R.

    04/13/2019
    Data reported that SH2B1 expression levels were significantly upregulated and positively associated with EMT markers and poor patient survival in lung adenocarcinoma (LADC) specimens. Further results reveal that SH2B1 has a major role in LADC progression and that SH2B1 is a critical activator of Wnt/beta-catenin signaling.

    SH2B1 promotes epithelial-mesenchymal transition through the IRS1/β-catenin signaling axis in lung adenocarcinoma.
    Wang S, Cheng Y, Gao Y, He Z, Zhou W, Chang R, Peng Z, Zheng Y, Duan C, Zhang C., Free PMC Article

    01/26/2019
    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.

    SH2B1 is Involved in the Accumulation of Amyloid-β42 in Alzheimer's Disease.
    Shen Y, Xia Y, Meng S, Lim NK, Wang W, Huang F.

    02/24/2018
    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.

    Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.
    Li L, Huang L, Lin S, Luo Y, Fang Q.

    12/2/2017
    SH2B1 fine-tunes global-local chromatin states.

    SH2B1 modulates chromatin state and MyoD occupancy to enhance expressions of myogenic genes.
    Chen KW, Chang YJ, Yeh CM, Lian YL, Chan MW, Kao CF, Chen L.

    10/28/2017
    SH2B1 and RABEP1 genetic variants are associated with worsening of LDL and glucose parameters in patients treated with psychotropic drugs

    Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.
    Delacrétaz A, Zdralovic A, Vandenberghe F, Saigi-Morgui N, Glatard A, Quteineh L, Gholam-Rezaee M, Raffoul W, Applegate LA, Jafari P, Gamma F, von Gunten A, Conus P, Eap CB.

    10/7/2017
    SH2B1 polymorphisms are associated with HbA1c, largely independent of BMI, in European American young adults.

    Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.
    Lange LA, Graff M, Lange EM, Young KL, Richardson AS, Mohlke KL, North KE, Harris KM, Gordon-Larsen P., Free PMC Article

    06/3/2017
    Results identified SH2B as a functional target of miR-361 which down-regulation suppresses lung cancer progression and metastasis through regulation of SH2B1.

    MicroRNA-361-3p suppresses tumor cell proliferation and metastasis by directly targeting SH2B1 in NSCLC.
    Chen W, Wang J, Liu S, Wang S, Cheng Y, Zhou W, Duan C, Zhang C., Free PMC Article

    12/17/2016
    that SH2B1 is a key positive mediator of pathological cardiac hypertrophy

    SH2B1 is critical for the regulation of cardiac remodelling in response to pressure overload.
    Wu G, Liu Y, Huang H, Tang Y, Liu W, Mei Y, Wan N, Liu X, Huang C.

    05/7/2016
    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.

    Genetic and structural variation in the SH2B1 gene in the Belgian population.
    Aerts E, Beckers S, Zegers D, Van Camp JK, Van Hoorenbeeck K, Massa G, Verrijken A, Mertens IL, Verhulst SL, Rooman RR, Van Gaal LF, Van Hul W.

    04/30/2016
    The rs7359397 (SH2B1) was associated with the body weight, body mass index, and truncal fat mass reduction.

    SH2B1 CpG-SNP is associated with body weight reduction in obese subjects following a dietary restriction program.
    Mansego ML, Milagro FI, Zulet MA, Martinez JA.

    10/31/2015
    We report evidence that the 16p11.2 deletion may influence specific obesity-associated disinhibited eating behaviors

    Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions.
    Gill R, Chen Q, D'Angelo D, Chung WK.

    09/26/2015
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