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    TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 23118, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

    Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
    Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR, van Haeringen A., Free PMC Article

    01/28/2023
    Expanding the phenotype of TAB2 variants and literature review.

    Expanding the phenotype of TAB2 variants and literature review.
    Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M., Free PMC Article

    01/14/2023
    TAB2 Promotes the Biological Functions of Head and Neck Squamous Cell Carcinoma Cells via EMT and PI3K Pathway.

    TAB2 Promotes the Biological Functions of Head and Neck Squamous Cell Carcinoma Cells via EMT and PI3K Pathway.
    Liu H, Zhang H, Fan H, Tang S, Weng J., Free PMC Article

    08/27/2022
    [Association Between TAB2 Gene Polymorphisms and Susceptibility to Cryptorchidism in Han Chinese Population in Southwest China].

    [Association Between TAB2 Gene Polymorphisms and Susceptibility to Cryptorchidism in Han Chinese Population in Southwest China].
    Su M, Li ZL, Song YP, Wang YY, Zhou B, Li Q., Free PMC Article

    07/30/2022
    TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

    TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
    Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE., Free PMC Article

    04/2/2022
    TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.

    TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
    Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS., Free PMC Article

    03/26/2022
    Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

    Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
    Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.

    03/26/2022
    Circular RNA WHSC1 exerts oncogenic properties by regulating miR-7/TAB2 in lung cancer.

    Circular RNA WHSC1 exerts oncogenic properties by regulating miR-7/TAB2 in lung cancer.
    Guan S, Li L, Chen WS, Jiang WY, Ding Y, Zhao LL, Shi YF, Wang J, Gui Q, Xu CC, Cheng Y, Zhang W., Free PMC Article

    02/26/2022
    There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.

    There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
    Westphal DS, Mastantuono E, Seidel H, Riedhammer KM, Hahn A, Vill K, Wagner M.

    02/12/2022
    Genetic association study between TAB2 polymorphisms and noise-induced-hearing-loss in a Han Chinese population.

    Genetic association study between TAB2 polymorphisms and noise-induced-hearing-loss in a Han Chinese population.
    Yang G, Wang B, Sun D, Wang H, Chen M, Chen H, Zhu B., Free PMC Article

    10/30/2021
    Associations between TAB2 gene polymorphisms and dilated cardiomyopathy in a Chinese population.

    Associations between TAB2 gene polymorphisms and dilated cardiomyopathy in a Chinese population.
    Shen C, Zhong Y, Huang X, Wang Y, Peng Y, Li K, Zhou B, Zhang L, Rao L.

    08/7/2021
    lncRNA CASC2 inhibits lipopolysaccharideinduced acute lung injury via miR27b/TAB2 axis.

    lncRNA CASC2 inhibits lipopolysaccharide‑induced acute lung injury via miR‑27b/TAB2 axis.
    Li X, Mo J, Li J, Chen Y., Free PMC Article

    05/15/2021
    Circ_AFF2 facilitates proliferation and inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis via the miR-375/TAB2 axis.

    Circ_AFF2 facilitates proliferation and inflammatory response of fibroblast-like synoviocytes in rheumatoid arthritis via the miR-375/TAB2 axis.
    Zhi L, Liang J, Huang W, Ma J, Qing Z, Wang X.

    04/24/2021
    A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.

    A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.
    Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M.

    01/2/2021
    we deeply dissect the molecular pathogenesis of the TAB2 c.1398dup variant and show that the resulting phenotype is well explained by TAB2 loss-of-function. Our data also offer initial insights on the ECM homeostasis impairment as a molecular mechanism probably underlying a multisystem disorder linked to TAB2.

    TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
    Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L.

    03/14/2020
    rs237028 polymorphism in the TAB2 gene was associated with epithelial ovarian cancer susceptibility in Chinese population.

    Associations between TAB2 Gene Polymorphisms and Epithelial Ovarian Cancer in a Chinese Population.
    Huang X, Shen C, Zhang Y, Li Q, Li K, Wang Y, Song Y, Su M, Zhou B, Wang W., Free PMC Article

    02/15/2020
    multiple GPCR agonists utilize non-canonical TAB1-TAB2 and TAB1-TAB3-dependent p38 activation to promote endothelial inflammatory responses.

    G protein-coupled receptors activate p38 MAPK via a non-canonical TAB1-TAB2- and TAB1-TAB3-dependent pathway in endothelial cells.
    Grimsey NJ, Lin Y, Narala R, Rada CC, Mejia-Pena H, Trejo J., Free PMC Article

    10/19/2019
    Data indicate an association between TAK1-binding protein 2 (TAB2) mutations and a connective tissue disorder with severe polyvalvular heart disease and subtle facial dysmorphism.

    A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M.

    08/11/2018
    The combination of WES, genomic triangulation, and systems biology has uncovered perturbations in TGF-beta activated kinase 1 signaling as a novel pathogenic substrate for polyvalvular syndrome.

    Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
    Ackerman JP, Smestad JA, Tester DJ, Qureshi MY, Crabb BA, Mendelsohn NJ, Ackerman MJ.

    01/27/2018
    Data suggest that mRNA/protein levels of NLRP6 are down-regulated in synovial tissues and synoviocytes of rheumatoid arthritis (RA) patients compared to osteoarthritis patients; NLRP6 provides docking site to facilitate interaction between TAB2/3 and TRIM38 in RA synoviocytes in response to TNFalpha. (NLRP6 = ; TAB2/3 = transforming growth factor-b-activated kinase 1-binding protein 2/3; TRIM38 = tripartite motif 38)

    NLRP6 facilitates the interaction between TAB2/3 and TRIM38 in rheumatoid arthritis fibroblast-like synoviocytes.
    Lin Y, Luo Z.

    08/12/2017
    A Novel Functional Domain of Tab2 Involved in the Interaction with Estrogen Receptor Alpha in Breast Cancer Cells

    A Novel Functional Domain of Tab2 Involved in the Interaction with Estrogen Receptor Alpha in Breast Cancer Cells.
    Reineri S, Agati S, Miano V, Sani M, Berchialla P, Ricci L, Iannello A, Coscujuela Tarrero L, Cutrupi S, De Bortoli M., Free PMC Article

    07/1/2017
    The expression of miR-155 target gene, TAB2, and the downstream gene, iNOS, were found to be inhibited in psoriatic dermal mesenchymal stem cells.

    Increased miR-155-5p expression in dermal mesenchymal stem cells of psoriatic patients: comparing the microRNA expression profile by microarray.
    Hou RX, Liu RF, Zhao XC, Jia YR, An P, Hao ZP, Li JQ, Li XH, Yin GH, Zhang KM.

    02/25/2017
    DK1 inhibits the formation of the TAK1-TAB2-TRAF6 complex and leads to the inhibition of TRAF6 ubiquitination.

    Phosphoinositide-dependent kinase-1 inhibits TRAF6 ubiquitination by interrupting the formation of TAK1-TAB2 complex in TLR4 signaling.
    Moon G, Kim J, Min Y, Wi SM, Shim JH, Chun E, Lee KY.

    09/24/2016
    Authors demonstrate that enterovirus 71 3C interacts with TAB2 and TAK1 and suppresses cytokine expression via cleavage of the TAK1 complex proteins.

    Enterovirus 71 3C inhibits cytokine expression through cleavage of the TAK1/TAB1/TAB2/TAB3 complex.
    Lei X, Han N, Xiao X, Jin Q, He B, Wang J., Free PMC Article

    12/20/2014
    SUMOylation may serve as a novel mechanism for the regulation of TAB2.

    TAB2, an important upstream adaptor of interleukin-1 signaling pathway, is subject to SUMOylation.
    Wang X, Jiang J, Lu Y, Shi G, Liu R, Cao Y.

    07/5/2014
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