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    FHOD3 formin homology 2 domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 80206, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.

    Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
    Piqueras-Flores J, Villacorta-Argüelles E, Galvin J, Climent-Payá V, Escobar-López LE, Amor-Salamanca A, Garcia-Hernandez S, Esmonde S, Martínez-Del Río J, Soto-Pérez M, Garcia-Pavia P, Ochoa JP.

    05/9/2024
    A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.

    A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.
    Vodnjov N, Toplišek J, Maver A, Čuturilo G, Jaklič H, Teran N, Višnjar T, Škrjanec Pušenjak M, Hodžić A, Miljanović O, Peterlin B, Writzl K., Free PMC Article

    12/15/2023
    Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.

    Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.
    Wu G, Ruan J, Liu J, Zhang C, Kang L, Wang J, Zou Y, Song L., Free PMC Article

    10/16/2021
    FHOD3 promotes carcinogenesis by regulating RhoA/ROCK1/LIMK1 signaling pathway in medulloblastoma.

    FHOD3 promotes carcinogenesis by regulating RhoA/ROCK1/LIMK1 signaling pathway in medulloblastoma.
    Yu J, Shi W, Zhao R, Shen W, Li H.

    07/17/2021
    Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

    Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
    Ochoa JP, Lopes LR, Perez-Barbeito M, Cazón-Varela L, de la Torre-Carpente MM, Sonicheva-Paterson N, De Uña-Iglesias D, Quinn E, Kuzmina-Krutetskaya S, Garrote JA, Elliott PM, Monserrat L.

    07/10/2021
    Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy.

    Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy.
    Huang S, Pu T, Wei W, Xu R, Wu Y.

    06/5/2021
    FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 2% of cases.

    Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
    Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L.

    09/14/2019
    These results indicate that RBM20 and PTBP1 play a role in the actin filament functional organization mediated by FHOD3 isoforms and suggest their possible involvement in heart diseases.

    RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3.
    Lorenzi P, Sangalli A, Fochi S, Dal Molin A, Malerba G, Zipeto D, Romanelli MG.

    07/20/2019
    FHOD3 played a role in glioma linear migration.

    Mechanical confinement triggers glioma linear migration dependent on formin FHOD3.
    Monzo P, Chong YK, Guetta-Terrier C, Krishnasamy A, Sathe SR, Yim EK, Ng WH, Ang BT, Tang C, Ladoux B, Gauthier NC, Sheetz MP., Free PMC Article

    01/28/2017
    Suggest alpha5beta1/Arp2/Arp3/FHOD3 pathway reprograms the actin cytoskeleton to promote invasive migration and local invasion in vivo.

    α5β1 integrin recycling promotes Arp2/3-independent cancer cell invasion via the formin FHOD3.
    Paul NR, Allen JL, Chapman A, Morlan-Mairal M, Zindy E, Jacquemet G, Fernandez del Ama L, Ferizovic N, Green DM, Howe JD, Ehler E, Hurlstone A, Caswell PT., Free PMC Article

    12/26/2015
    DCM-associated FHOD3 variant may cause DCM by interfering with actin filament assembly.

    Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor.
    Arimura T, Takeya R, Ishikawa T, Yamano T, Matsuo A, Tatsumi T, Nomura T, Sumimoto H, Kimura A.

    07/12/2014
    FHOD variants is with hypertrophic cardiomyopathy.

    Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.
    Wooten EC, Hebl VB, Wolf MJ, Greytak SR, Orr NM, Draper I, Calvino JE, Kapur NK, Maron MS, Kullo IJ, Ommen SR, Bos JM, Ackerman MJ, Huggins GS., Free PMC Article

    08/31/2013
    C-terminal phosphorylation by ROCK1 is sufficient for FHOD3 activation as evidenced by an increase in F-actin in HeLa cells.

    Two distinct phosphorylation events govern the function of muscle FHOD3.
    Iskratsch T, Reijntjes S, Dwyer J, Toselli P, Dégano IR, Dominguez I, Ehler E., Free PMC Article

    04/6/2013
    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
    Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator)

    Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
    Adkins DE, Aberg K, McClay JL, Bukszár J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF, van den Oord EJ., Free PMC Article

    04/7/2010
    actin dynamics regulated by Fhod3 are critical for sarcomere organization in striated muscle cells.

    Mammalian formin fhod3 regulates actin assembly and sarcomere organization in striated muscles.
    Taniguchi K, Takeya R, Suetsugu S, Kan-O M, Narusawa M, Shiose A, Tominaga R, Sumimoto H., Free PMC Article

    01/21/2010
    Single nucleotide polymorphism in FHOD3 gene is associated with acute lymphoblastic leukemia.

    Acquired variation outweighs inherited variation in whole genome analysis of methotrexate polyglutamate accumulation in leukemia.
    French D, Yang W, Cheng C, Raimondi SC, Mullighan CG, Downing JR, Evans WE, Pui CH, Relling MV., Free PMC Article

    01/21/2010
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