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    FAM167A family with sequence similarity 167 member A [ Homo sapiens (human) ]

    Gene ID: 83648, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    FAM167A is a key molecule to induce BCR-ABL-independent TKI resistance in CML via noncanonical NF-kappaB signaling activation.

    FAM167A is a key molecule to induce BCR-ABL-independent TKI resistance in CML via noncanonical NF-κB signaling activation.
    Yang T, Sim KY, Ko GH, Ahn JS, Kim HJ, Park SG., Free PMC Article

    04/16/2022
    Our findings indicate a role for DIORA-1 in distinct B cell subsets, and suggest that DIORA-1 may contribute to the inflammatory process and disease pathogenesis in primary Sjogren's syndrome through B cell involvement

    Clinical associations and expression pattern of the autoimmunity susceptibility factor DIORA-1 in patients with primary Sjögren's syndrome.
    Aqrawi LA, Mentlein L, Meneghel L, Björk A, Thorlacius GE, Ivanchenko M, Ramírez Sepúlveda JI, Skarstein K, Kvarnström M, Brauner S, Espinosa A, Wahren-Herlenius M.

    08/24/2019
    FAM167A gene is associated with several rheumatic diseases and encodes a novel disordered protein, DIORA-1, which is expressed highly in the lung, consistent with a potential role in disease pathogenesis

    The rheumatic disease-associated FAM167A-BLK locus encodes DIORA-1, a novel disordered protein expressed highly in bronchial epithelium and alveolar macrophages.
    Mentlein L, Thorlacius GE, Meneghel L, Aqrawi LA, Ramírez Sepúlveda JI, Grunewald J, Espinosa A, Wahren-Herlenius M., Free PMC Article

    07/6/2019
    Polymorphisms of FAM167A-BLK region confer risk of developing an autoimmune thyroid disease.

    Polymorphisms of FAM167A-BLK Region Confer Risk of Autoimmune Thyroid Disease.
    Song RH, Li Q, Jia X, Yao QM, Wang B, Zhang JA.

    11/24/2018
    current meta-analysis suggested that FAM167A-BLK rs2736340 polymorphism is associated with several autoimmune diseases

    Association of FAM167A-BLK rs2736340 Polymorphism with Susceptibility to Autoimmune Diseases: A Meta-Analysis.
    Zhou Y, Li X, Wang G, Li X.

    04/1/2017
    SNPs in TNFSF4 and FAM167A-BLK may be involved in asthma and allergic rhinitis gene risk in the Han Chinese cohort.

    Genetic risk of TNFSF4 and FAM167A-BLK polymorphisms in children with asthma and allergic rhinitis in a Han Chinese population.
    Liu Y, Ke X, Kang HY, Wang XQ, Shen Y, Hong SL.

    03/25/2017
    the FAM167A-BLK polymorphisms were associated with Chinese PM/DM patients or these patients with ILD, indicating that PM/DM might share common gene with other autoimmune diseases.

    Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.
    Chen S, Wu W, Li J, Wang Q, Li Y, Wu Z, Zheng W, Wu Q, Wu C, Zhang F, Li Y., Free PMC Article

    02/13/2016
    Results support previous findings that vaiants in the RHOB and FAM167A-BLK genes may be associated with susceptibility to systemic sclerosis.

    Possible single-nucleotide polymorphism loci associated with systemic sclerosis susceptibility: a genetic association study in a Chinese Han population.
    Shu C, Du W, Mao X, Li Y, Zhu Q, Wang W, Wu N, Mao X, Jin H, Sun Q., Free PMC Article

    08/15/2015
    The observations suggested that C8orf13-BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals.

    Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility.
    Sugiura T, Kawaguchi Y, Goto K, Hayashi Y, Gono T, Furuya T, Nishino I, Yamanaka H., Free PMC Article

    01/3/2015
    Strong correlations have been observed between TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.[FAM167A-BLK]

    Association studies of TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese.
    Sun F, Li P, Chen H, Wu Z, Xu J, Shen M, Leng X, Shi Q, Zhang W, Tian X, Li Y, Zhang F.

    02/15/2014
    SNPs of the FAM167A-BLK region, but not the BANK1 SNPs, were associated with the development of primary Sjogren's syndrome in Han Chinese.

    Polymorphisms in the FAM167A-BLK, but not BANK1, are associated with primary Sjögren's syndrome in a Han Chinese population.
    Sun F, Xu J, Wu Z, Li P, Chen H, Su J, You X, Li M, Zhao Y, Tian X, Li Y, Zhang F.

    12/7/2013
    These results confirm C8orf13-BLK as a systemic sclerosis risk locus

    C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.
    Coustet B, Dieudé P, Guedj M, Bouaziz M, Avouac J, Ruiz B, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Cosnes A, Meyer O, Kahan A, Boileau C, Chiocchia G, Allanore Y.

    09/3/2011
    EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS.

    Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
    Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P, Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen AC, Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P, Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen AC.

    07/2/2011
    Observational study and meta-analysis of gene-disease association. (HuGE Navigator)

    Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.
    Sanchez E, Webb RD, Rasmussen A, Kelly JA, Riba L, Kaufman KM, Garcia-de la Torre I, Moctezuma JF, Maradiaga-Ceceña MA, Cardiel-Rios MH, Acevedo E, Cucho-Venegas M, Garcia MA, Gamron S, Pons-Estel BA, Vasconcelos C, Martin J, Tusié-Luna T, Harley JB, Richardson B, Sawalha AH, Alarcón-Riquelme ME., Free PMC Article

    12/5/2010
    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
    Results indicate the FAM167A-BLK region may be a shared genetic factor for a number of autoimmune diseases in multiple populations, but the genetic contribution may be grater in Asian populations.

    Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.
    Ito I, Kawasaki A, Ito S, Kondo Y, Sugihara M, Horikoshi M, Hayashi T, Goto D, Matsumoto I, Tsutsumi A, Takasaki Y, Hashimoto H, Matsuta K, Sumida T, Tsuchiya N, Ito I, Kawasaki A, Ito S, Kondo Y, Sugihara M, Horikoshi M, Hayashi T, Goto D, Matsumoto I, Tsutsumi A, Takasaki Y, Hashimoto H, Matsuta K, Sumida T, Tsuchiya N.

    06/28/2010
    Our findings indicate that the rs13277113A allele is associated not only with SLE but also with SSc and that the FAM167A-BLK region is a common genetic risk factor for both SLE and SSc.

    Association of the FAM167A-BLK region with systemic sclerosis.
    Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, Ohashi J, Kawamoto M, Fujimoto M, Takehara K, Sato S, Hara M, Tsuchiya N.

    04/12/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (5) articles

    Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
    Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P, Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen AC, Nordmark G, Kristjansdottir G, Theander E, Appel S, Eriksson P, Vasaitis L, Kvarnström M, Delaleu N, Lundmark P, Lundmark A, Sjöwall C, Brun JG, Jonsson MV, Harboe E, Gøransson LG, Johnsen SJ, Söderkvist P, Eloranta ML, Alm G, Baecklund E, Wahren-Herlenius M, Omdal R, Rönnblom L, Jonsson R, Syvänen AC.

    Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.
    Torres O, Palomino-Morales R, Vazquez-Rodriguez TR, Castañeda S, Morado IC, Miranda-Filloy JA, Ortego-Centeno N, Fernandez-Gutierrez B, Martin J, Gonzalez-Gay MA.

    Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.
    Ito I, Kawasaki A, Ito S, Kondo Y, Sugihara M, Horikoshi M, Hayashi T, Goto D, Matsumoto I, Tsutsumi A, Takasaki Y, Hashimoto H, Matsuta K, Sumida T, Tsuchiya N, Ito I, Kawasaki A, Ito S, Kondo Y, Sugihara M, Horikoshi M, Hayashi T, Goto D, Matsumoto I, Tsutsumi A, Takasaki Y, Hashimoto H, Matsuta K, Sumida T, Tsuchiya N.

    Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.
    Ito I, Kawasaki A, Ito S, Hayashi T, Goto D, Matsumoto I, Tsutsumi A, Hom G, Graham RR, Takasaki Y, Hashimoto H, Ohashi J, Behrens TW, Sumida T, Tsuchiya N.

    Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.
    Fung EY, Smyth DJ, Howson JM, Cooper JD, Walker NM, Stevens H, Wicker LS, Todd JA.

    01/11/2009
    identified and confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region

    Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
    Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S, Lee AT, Chung SA, Ferreira RC, Pant PV, Ballinger DG, Kosoy R, Demirci FY, Kamboh MI, Kao AH, Tian C, Gunnarsson I, Bengtsson AA, Rantapää-Dahlqvist S, Petri M, Manzi S, Seldin MF, Rönnblom L, Syvänen AC, Criswell LA, Gregersen PK, Behrens TW.

    01/21/2010
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