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    AFF2 ALF transcription elongation factor 2 [ Homo sapiens (human) ]

    Gene ID: 2334, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    ALKBH5/YTHDF2-mediated m6A modification of circAFF2 enhances radiosensitivity of colorectal cancer by inhibiting Cullin neddylation.

    ALKBH5/YTHDF2-mediated m6A modification of circAFF2 enhances radiosensitivity of colorectal cancer by inhibiting Cullin neddylation.
    Shao Y, Liu Z, Song X, Sun R, Zhou Y, Zhang D, Sun H, Huang J, Wu C, Gu W, Zheng X, Jiang J., Free PMC Article

    07/7/2023
    [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis].

    [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis].
    Mu J, Xu Y, Zhu H., Free PMC Article

    06/21/2023
    Nuclear expression of AFF2 C-terminus is a sensitive and specific ancillary marker for DEK::AFF2 carcinoma of the sinonasal tract.

    Nuclear expression of AFF2 C-terminus is a sensitive and specific ancillary marker for DEK::AFF2 carcinoma of the sinonasal tract.
    Kuo YJ, Lewis JS Jr, Truong T, Yeh YC, Chernock RD, Zhai C, Chen YA, Hongo T, Lee CK, Shi Q, Velez Torres JM, Geromes AB, Chu YH, Hsieh MS, Yamamoto H, Weinreb I, Hang JF.

    10/29/2022
    Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.

    Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
    Liu T, Wang FS, Cheah FSH, Gu Y, Shaw M, Law HY, Tay SKH, Lee CG, Nelson DL, Gecz J, Chong SS.

    01/22/2022
    Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.

    Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.
    Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, Jorge P., Free PMC Article

    12/4/2021
    DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.

    DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
    Rooper LM, Agaimy A, Dickson BC, Dueber JC, Eberhart CG, Gagan J, Hartmann A, Khararjian A, London NR, MacMillan CM, Palsgrove DN, Nix JS, Sandison A, Stoehr R, Truong T, Weinreb I, Bishop JA.

    12/4/2021
    Circ-AFF2/miR-650/CNP axis promotes proliferation, inflammatory response, migration, and invasion of rheumatoid arthritis synovial fibroblasts.

    Circ-AFF2/miR-650/CNP axis promotes proliferation, inflammatory response, migration, and invasion of rheumatoid arthritis synovial fibroblasts.
    Qu W, Jiang L, Hou G., Free PMC Article

    09/11/2021
    AFF2/FMR2 regulates the transcription and toxicity of expanded G4C2 repeats in human C9ORF72-ALS/FTD neurons.

    Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD.
    Yuva-Aydemir Y, Almeida S, Krishnan G, Gendron TF, Gao FB., Free PMC Article

    03/14/2020
    Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.

    Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
    da Rocha NB, dos Santos PA, Safatle HP, de Melo RM, Pereira RW, de Oliveira SF, Pic-Taylor A, Ferrari I, Mazzeu JF.

    07/25/2015
    FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular.

    Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
    Melko M, Nguyen LS, Shaw M, Jolly L, Bardoni B, Gecz J.

    02/1/2014
    2.5% of males Autism spectrum disorder patients had missense mutations in AFF2 at highly conserved evolutionary sites.

    Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
    Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME., Free PMC Article

    03/16/2013
    A report of novel deletions involving AFF2 provide evidence for a new mutational spectrum, microdeletions, that are responsible for Fragile X E in a small subset of patients.

    Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
    Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG.

    05/5/2012
    overexpression of AFF2/3/4 interferes with the organization and/or biogenesis of nuclear speckles.

    Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
    Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B.

    08/13/2011
    CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci observed in this study demonstrated a racial and ethnic variation among the populations in India.

    Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
    Katikala L, Guruju MR, Madireddi S, Vallamkonda O, Vallamkonda N, Persha A, Spurgeon AM.

    07/30/2011
    Observational study of gene-disease association. (HuGE Navigator)

    A large-scale candidate gene association study of age at menarche and age at natural menopause.
    He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ., Free PMC Article

    12/5/2010
    Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

    Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
    Sharma D, Gupta M, Thelma BK.

    03/13/2008
    FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).

    Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.
    Brylawski BP, Chastain PD 2nd, Cohen SM, Cordeiro-Stone M, Kaufman DG., Free PMC Article

    01/21/2010
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