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    CSF2RB colony stimulating factor 2 receptor subunit beta [ Homo sapiens (human) ]

    Gene ID: 1439, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer.

    Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer.
    Rashid M, Ali R, Almuzzaini B, Song H, AlHallaj A, Abdulkarim AA, Mohamed Baz O, Al Zahrani H, Mustafa Sabeena M, Alharbi W, Hussein M, Boudjelal M., Free PMC Article

    03/19/2022
    The IL-3, IL-5, and GM-CSF common receptor beta chain mediates oncogenic activity of FLT3-ITD-positive AML.

    The IL-3, IL-5, and GM-CSF common receptor beta chain mediates oncogenic activity of FLT3-ITD-positive AML.
    Charlet A, Kappenstein M, Keye P, Kläsener K, Endres C, Poggio T, Gorantla SP, Kreutmair S, Sänger J, Illert AL, Miething C, Reth M, Duyster J, Rummelt C, von Bubnoff N., Free PMC Article

    03/12/2022
    The Truncated Splice Variant of the Granulocyte-Macrophage-Colony-Stimulating Factor Receptor beta- Chain in Peripheral Blood Serves as Severity Biomarker of Respiratory Failure in Newborns.

    The Truncated Splice Variant of the Granulocyte-Macrophage-Colony-Stimulating Factor Receptor β- Chain in Peripheral Blood Serves as Severity Biomarker of Respiratory Failure in Newborns.
    Schulte V, Sipol A, Burdach S, Rieger-Fackeldey E.

    11/6/2021
    Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.

    Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.
    Sakaue S, Yamaguchi E, Inoue Y, Takahashi M, Hirata J, Suzuki K, Ito S, Arai T, Hirose M, Tanino Y, Nikaido T, Ichiwata T, Ohkouchi S, Hirano T, Takada T, Miyawaki S, Dofuku S, Maeda Y, Nii T, Kishikawa T, Ogawa K, Masuda T, Yamamoto K, Sonehara K, Tazawa R, Morimoto K, Takaki M, Konno S, Suzuki M, Tomii K, Nakagawa A, Handa T, Tanizawa K, Ishii H, Ishida M, Kato T, Takeda N, Yokomura K, Matsui T, Watanabe M, Inoue H, Imaizumi K, Goto Y, Kida H, Fujisawa T, Suda T, Yamada T, Satake Y, Ibata H, Hizawa N, Mochizuki H, Kumanogoh A, Matsuda F, Nakata K, Hirota T, Tamari M, Okada Y., Free PMC Article

    02/27/2021
    Missense mutations in CSF2RB gene is associated with Pediatric Crohn's Disease.

    Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
    Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Valencia CA, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S., Free PMC Article

    02/1/2020
    This study provides a platform for studying the in vivo effect of Flt3-L and GM-CSF on human DCs and regulatory T cells.

    Introduction of Human Flt3-L and GM-CSF into Humanized Mice Enhances the Reconstitution and Maturation of Myeloid Dendritic Cells and the Development of Foxp3(+)CD4(+) T Cells.
    Iwabuchi R, Ikeno S, Kobayashi-Ishihara M, Takeyama H, Ato M, Tsunetsugu-Yokota Y, Terahara K., Free PMC Article

    07/13/2019
    SYK mediates the actions of EPO and GM-CSF and coordinates with TGF-beta in erythropoiesis.

    Spleen tyrosine kinase mediates the actions of EPO and GM-CSF and coordinates with TGF-β in erythropoiesis.
    Chang HC, Huang DY, Wu MS, Chu CL, Tzeng SJ, Lin WW.

    10/7/2017
    Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with Crohn's Disease in an independent cohort of Ashkenazi Jewish individuals.

    Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.
    Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D, NIDDK Inflammatory Bowel Disease Genetics Consortium, Lovat LB, Barrett JC, Grasberger H, Plagnol V, Segal AW., Free PMC Article

    06/10/2017
    In a genetic analysis of Ashkenazi Jewish individuals, we associated Crohn's Disease with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor, providing an additional mechanism for alterations to the innate immune response in individuals with Crohn's Disease.

    A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.
    Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH., Free PMC Article

    06/10/2017
    VitD-mediated stimulation of GC anti-inflammatory affects human monocytes in a process involving GM-CSF and MED14

    Vitamin D enhances glucocorticoid action in human monocytes: involvement of granulocyte-macrophage colony-stimulating factor and mediator complex subunit 14.
    Zhang Y, Leung DYM, Goleva E., Free PMC Article

    08/10/2013
    These data suggest that expression of GM-CSF and its receptor subunits by colon tumors may be a useful marker for prognosis

    Immune-dependent and independent antitumor activity of GM-CSF aberrantly expressed by mouse and human colorectal tumors.
    Urdinguio RG, Fernandez AF, Moncada-Pazos A, Huidobro C, Rodriguez RM, Ferrero C, Martinez-Camblor P, Obaya AJ, Bernal T, Parra-Blanco A, Rodrigo L, Santacana M, Matias-Guiu X, Soldevilla B, Dominguez G, Bonilla F, Cal S, Lopez-Otin C, Fraga MF.

    03/2/2013
    This study reveals a novel functional role of clathrin-coated structure in GMR signaling and the oncogenesis of JAK2V617F.

    Identification of a novel function of the clathrin-coated structure at the plasma membrane in facilitating GM-CSF receptor-mediated activation of JAK2.
    Chen PH, Chien FC, Lee SP, Chan WE, Lin IH, Liu CS, Lee FJ, Lai JS, Chen P, Yang-Yen HF, Yen JJ., Free PMC Article

    03/2/2013
    JAK kinase binding to betac requires the presence of three critical betac lysine residues, and this binding event is essential for receptor ubiquitination, endocytosis, and signaling.

    Three lysine residues in the common β chain of the interleukin-5 receptor are required for Janus kinase (JAK)-dependent receptor ubiquitination, endocytosis, and signaling.
    Lei JT, Mazumdar T, Martinez-Moczygemba M., Free PMC Article

    01/7/2012
    Over expression of IL-3Ralpha and truncated mutation of hbetac may be involved in proliferation and differentiation block in NB4 cells.

    [Expression change of IL-3 receptor system in all-trans retinoic acid induced differentiation of NB4 cells].
    Wu Y, Yang JH, Li XF, Liao XY, Huang HF, Chen YZ.

    10/8/2011
    Granulocyte/macrophage colony-stimulating factor causes a paradoxical increase in the BH3-only pro-apoptotic protein Bim in human neutrophils

    Granulocyte/macrophage colony-stimulating factor causes a paradoxical increase in the BH3-only pro-apoptotic protein Bim in human neutrophils.
    Cowburn AS, Summers C, Dunmore BJ, Farahi N, Hayhoe RP, Print CG, Cook SJ, Chilvers ER., Free PMC Article

    08/27/2011
    The results of the study support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.

    Common SNPs in CSF2RB are associated with major depression and schizophrenia in the Chinese Han population.
    Chen P, Huang K, Zhou G, Zeng Z, Wang T, Li B, Wang Y, He L, Feng G, Shi Y.

    08/20/2011
    Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations [case report]

    Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations.
    Suzuki T, Maranda B, Sakagami T, Catellier P, Couture CY, Carey BC, Chalk C, Trapnell BC.

    05/28/2011
    the up-regulation of IL-3Rbeta expression may contribute to the maintenance of proliferation rather than cell differentiation.

    Down-regulating the expression of IL-3Rβ interfered with the proliferation, not differentiation in NB4 cells.
    Li X, Wu Y, Chen Y.

    05/7/2011
    The beta1 integrin-interacting domain in the extracellular domain of IL-3Rbeta was identified. A fragment of a protein corresponding to domain 4 of IL-3Rbeta prevented IL-3-mediated arterial morphogenesis and endothelial cell migration.

    Inhibition of β1 integrin and IL-3Rβ common subunit interaction hinders tumour angiogenesis.
    Uberti B, Dentelli P, Rosso A, Defilippi P, Brizzi MF.

    01/15/2011
    the domain 1 D-E loop disulfide of hbetac and beta(IL-3) have roles in maintaining the precise positions of ligand-binding residues necessary for normal high affinity binding and signaling

    The role of interchain heterodisulfide formation in activation of the human common beta and mouse betaIL-3 receptors.
    Mirza S, Chen J, Murphy JM, Young IG., Free PMC Article

    09/27/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Two different modes of beta c binding are utilized in the presence of the hIL-3R alpha isoforms.

    Two modes of beta-receptor recognition are mediated by distinct epitopes on mouse and human interleukin-3.
    Mirza S, Chen J, Wen B, Ewens CL, Dai J, Murphy JM, Young IG., Free PMC Article

    08/9/2010
    Data show that Deletion of the Ig-like domain of GM-CSFRalpha abolished direct GM-CSF binding and decreased growth signalling in the presence of hbetac.

    The Ig-like domain of human GM-CSF receptor alpha plays a critical role in cytokine binding and receptor activation.
    Mirza S, Walker A, Chen J, Murphy JM, Young IG.

    05/10/2010
    This study found that several markers (rs2072707, rs2284031 and rs909486)of csf2rb showed sex-specific and family history-dependent associations with schizophrenia.

    Association study of CSF2RB with schizophrenia in Irish family and case - control samples.
    Chen Q, Wang X, O'Neill FA, Walsh D, Fanous A, Kendler KS, Chen X., Free PMC Article

    01/21/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
    Moskvina V, Craddock N, Holmans P, Nikolov I, Pahwa JS, Green E, Wellcome Trust Case Control Consortium, Owen MJ, O'Donovan MC., Free PMC Article

    01/11/2009
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