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    AFF3 ALF transcription elongation factor 3 [ Homo sapiens (human) ]

    Gene ID: 3899, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Loss of AR-regulated AFF3 contributes to prostate cancer progression and reduces ferroptosis sensitivity by downregulating ACSL4 based on single-cell sequencing analysis.

    Loss of AR-regulated AFF3 contributes to prostate cancer progression and reduces ferroptosis sensitivity by downregulating ACSL4 based on single-cell sequencing analysis.
    Fan A, Li Y, Zhang Y, Meng W, Pan W, Chen M, Ma Z, Chen W.

    09/23/2024
    Integrated mendelian randomization analyses highlight AFF3 as a novel eQTL-mediated susceptibility gene in renal cancer and its potential mechanisms.

    Integrated mendelian randomization analyses highlight AFF3 as a novel eQTL-mediated susceptibility gene in renal cancer and its potential mechanisms.
    Wang Q, Chen S, Wang G, Zhang T, Gao Y., Free PMC Article

    07/3/2024
    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

    Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
    Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A., Free PMC Article

    06/6/2024
    Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.

    Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
    Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N.

    04/6/2023
    A novel variant in AFF3 underlying isolated syndactyly.

    A novel variant in AFF3 underlying isolated syndactyly.
    Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S.

    02/11/2023
    Association of AFF3 Gene Polymorphism rs10865035 with Rheumatoid Arthritis: A Population-Based Case-Control Study on a Pakistani Cohort.

    Association of AFF3 Gene Polymorphism rs10865035 with Rheumatoid Arthritis: A Population-Based Case-Control Study on a Pakistani Cohort.
    Ali Y, Khan S, Chen Y, Farooqi N, Islam ZU, Akhtar M, Aamir, Aman A, Shah AA, Jamal M, Jalil F., Free PMC Article

    01/22/2022
    Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

    Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
    Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A., Free PMC Article

    07/3/2021
    AFF3 was overexpressed in tamoxifen-resistant tumors. AFF3 overexpression in breast cancer cells resulted in tamoxifen resistance, whereas RNA interference-mediated gene knockdown reversed this phenotype.

    AFF3 upregulation mediates tamoxifen resistance in breast cancers.
    Shi Y, Zhao Y, Zhang Y, AiErken N, Shao N, Ye R, Lin Y, Wang S., Free PMC Article

    01/19/2019
    Data identified AFF3 as an interactive protein with beclin1 and suggest that AFF3 is probably a key regulator of Beclin-1.

    Integrating multiple omics data for the discovery of potential Beclin-1 interactions in breast cancer.
    Chen Y, Wang X, Wang G, Li Z, Wang J, Huang L, Qin Z, Yuan X, Cheng Z, Zhang S, Yin Y, He J.

    02/10/2018
    Both the AFF3 and NTM triglyceride associations were replicated among Multi-ethnic Study of Atherosclerosis study participants (P = 1.00 x 10(-7) and 8.00 x 10(-5), respectively).

    Genome-wide linkage and positional association analyses identify associations of novel AFF3 and NTM genes with triglycerides: the GenSalt study.
    Li C, Bazzano LA, Rao DC, Hixson JE, He J, Gu D, Gu CC, Shimmin LC, Jaquish CE, Schwander K, Liu DP, Huang J, Lu F, Cao J, Chong S, Lu X, Kelly TN., Free PMC Article

    09/26/2015
    FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat.

    FRA2A is a CGG repeat expansion associated with silencing of AFF3.
    Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF., Free PMC Article

    11/29/2014
    Significant evidence for association of AFF3 rs10865035 with systgemic lupus erythmatgosus was detected.

    Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population.
    Cen H, Leng RX, Wang W, Zhou M, Feng CC, Chen GM, Li R, Pan HF, Li XP, Ye DQ.

    02/2/2013
    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
    Meta-analysis of gene-disease association. (HuGE Navigator)

    Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers.
    Plant D, Flynn E, Mbarek H, Dieudé P, Cornelis F, Arlestig L, Dahlqvist SR, Goulielmos G, Boumpas DT, Sidiropoulos P, Johansen JS, Ørnbjerg LM, Hetland ML, Klareskog L, Filer A, Buckley CD, Raza K, Witte T, Schmidt RE, Worthington J., Free PMC Article

    06/30/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.
    Tan RJ, Gibbons LJ, Potter C, Hyrich KL, Morgan AW, Wilson AG, Isaacs JD, BRAGGSS, Barton A., Free PMC Article

    06/30/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register.
    Plant D, Thomson W, Lunt M, Flynn E, Martin P, Eyre S, Farragher T, Bunn D, Worthington J, Symmons D, Barton A., Free PMC Article

    04/7/2010
    AFF3 is a novel rheumatoid arthritis susceptibile gene.

    Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
    Barton A, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P, YEAR Consortium, BIRAC Consortium, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J., Free PMC Article

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.
    Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Worthington J, Childhood Arthritis Prospective Study, UKRAG Consortium, BSPAR Study Group, Thomson W.

    Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C.

    04/1/2009
    array comparative genomic hybridization (CGH) analysis revealed a de novo interstitial microdeletion of 500 kb on chromosome 2q11.1 containing the LAF4/AFF3 (lymphoid-nuclear-protein-related AF4) gene

    Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
    Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S.

    01/21/2010
    A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma.

    A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma.
    Impera L, Albano F, Lo Cunsolo C, Funes S, Iuzzolino P, Laveder F, Panagopoulos I, Rocchi M, Storlazzi CT.

    01/21/2010
    LAF-4 may be a proto-oncogene that is transcriptionally activated in some cases of breast cancer.

    LAF-4 is aberrantly expressed in human breast cancer.
    To MD, Faseruk SA, Gokgoz N, Pinnaduwage D, Done SJ, Andrulis IL.

    01/21/2010
    This gene is fused to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).

    Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).
    Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y.

    01/21/2010
    The LAF4 gene mapped on chromosome region 2q11.2-q12 has been identified as a fusion partner of the MLL gene in a case of infant acute lymphoblastic leukemia.

    LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia.
    von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E.

    01/21/2010
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