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    BLK BLK proto-oncogene, Src family tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 640, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin.

    B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with β-catenin.
    Zhou C, Zhu X, Liu N, Dong X, Zhang X, Huang H, Tang Y, Liu S, Hu M, Wang M, Deng X, Li S, Zhang R, Huang Y, Lyu H, Xiao S, Luo S, Ali DW, Michalak M, Chen XZ, Wang Z, Tang J., Free PMC Article

    02/22/2023
    Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.

    Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
    Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA., Free PMC Article

    04/30/2022
    BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.

    BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.
    Yin BW, Li B, Mehmood A, Yuan C, Song S, Guo RY, Zhang L, Ma T, Guo L., Free PMC Article

    03/26/2022
    BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjogren's syndrome and with some clinical features.

    BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features.
    Montúfar-Robles I, Lara-García S, Barbosa-Cobos RE, Vargas-Alarcón G, Hernández-Molina G, Fragoso JM, Cabello-Gutiérrez C, Reyes-Cetina IL, Arenas-Silva I, Cruz-Mayor KJ, Concha-Del Río LE, De Anda-Turati M, Sánchez-Tlapalcoyoatl A, Cheja-Kalb R, Hubbe-Tena C, Lima G, Mendoza-Rincón JF, Ramírez-Bello J.

    09/11/2021
    Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.

    Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.
    Di D, Ye Q, Wu X, Zhang L, Wang X, Liu R, Huang Q, Ni J, Leng R.

    11/21/2020
    This is the first study showing an association of BLK rs2736340T/C and rs13277113A/G and BANK1 R61H with susceptibility to SLE in a Latin-American population. In addition, some BLK and BANK1 interactions were associated with susceptibility to SLE.

    BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.
    Ramírez-Bello J, Jiménez-Morales S, Montufar-Robles I, Fragoso JM, Barbosa-Cobos RE, Saavedra MA, Sánchez-Muñoz F.

    12/28/2019
    The results suggest that this is the first study to disclose a possible association of genetic variants of BLK with susceptibility to GD, HT and AITD, and the diversity of AmiA levels.

    Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease.
    Cheng CW, Yang SF, Wang YH, Fang WF, Lin YC, Tang KT, Lin JD.

    07/27/2019
    Study demonstrates the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines.

    Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
    Jiang SH, Athanasopoulos V, Ellyard JI, Chuah A, Cappello J, Cook A, Prabhu SB, Cardenas J, Gu J, Stanley M, Roco JA, Papa I, Yabas M, Walters GD, Burgio G, McKeon K, Byers JM, Burrin C, Enders A, Miosge LA, Canete PF, Jelusic M, Tasic V, Lungu AC, Alexander SI, Kitching AR, Fulcher DA, Shen N, Arsov T, Gatenby PA, Babon JJ, Mallon DF, de Lucas Collantes C, Stone EA, Wu P, Field MA, Andrews TD, Cho E, Pascual V, Cook MC, Vinuesa CG., Free PMC Article

    06/8/2019
    our results indicated that the BLK rs13277113 polymorphism was involved in the genetic background of RA in Chinese population and the association of BANK1 rs3733197 polymorphism with RA was dependent on the genotype of BLK rs13277113 polymorphism, highlighting B-cell response implicated in the pathogenesis of RA.

    Interaction analysis between BLK rs13277113 polymorphism and BANK1 rs3733197 polymorphism, MMEL1/TNFRSF14 rs3890745 polymorphism in determining susceptibility to rheumatoid arthritis.
    Huang H, Huang SC, Hua DJ, Sun QQ, Cen H, Xin XF.

    06/9/2018
    present study suggests a novel association between specific TNFSF4 and BLK gene polymorphisms and allergic rhinitis risk.

    Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis.
    Shen Y, Liu Y, Wang XQ, Ke X, Kang HY, Hong SL., Free PMC Article

    04/28/2018
    This meta-analysis confirms that polymorphisms in the BLK alleles rs13277113 A/G, rs2736340 T/C, and rs2248932 T/C are associated with susceptibility to SLE in Caucasian and Asian populations.

    Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.
    Song GG, Lee YH.

    11/11/2017
    Confirm the association of rs548234/ATG5, rs2736340/BLK and rs10516487/BANK1 with systemic lupus erythematosus in Chinese Han and reinforced our hypothesis of their epistasis effect in regulating B-cell signaling in SLE.

    Gene-gene interaction of ATG5, ATG7, BLK and BANK1 in systemic lupus erythematosus.
    Dang J, Li J, Xin Q, Shan S, Bian X, Yuan Q, Liu N, Ma X, Li Y, Liu Q.

    10/28/2017
    ur study provides evidence that human BLK is a true proto-oncogene capable of inducing tumors, and we demonstrate a novel BLK activity-dependent tumor model suitable for studies of BLK-driven lymphomagenesis and screening of novel BLK inhibitors in vivo.

    A novel BLK-induced tumor model.
    Petersen DL, Berthelsen J, Willerslev-Olsen A, Fredholm S, Dabelsteen S, Bonefeld CM, Geisler C, Woetmann A.

    07/29/2017
    rs13277113 GA genotype of BLK is more frequent in Systemic Lupus Erythematosus patients and may have a role in low gene expression and increased flares

    BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.
    Pamuk ON, Gurkan H, Pamuk GE, Tozkır H, Duymaz J, Yazar M.

    04/15/2017
    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
    the 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 systemic lupus erythematosus variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.

    The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.
    Díaz-Barreiro A, Bernal-Quirós M, Georg I, Marañón C, Alarcón-Riquelme ME, Castillejo-López C.

    12/17/2016
    Report a novel BLK gene variant in common variable immunodeficiency-patients that causes suppressed B-cell proliferation and reduced ability of B-cells to elicit antigen-specific CD4(+) T-cell responses.

    Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.
    Compeer EB, Janssen W, van Royen-Kerkhof A, van Gijn M, van Montfrans JM, Boes M., Free PMC Article

    03/5/2016
    A major mechanism underlying the BLK association with autoimmune disease involves lowered thresholds for basal B cell receptor signaling, enhanced B cell-T cell interactions, and altered patterns of isotype switching.

    Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.
    Simpfendorfer KR, Armstead BE, Shih A, Li W, Curran M, Manjarrez-Orduño N, Lee AT, Diamond B, Gregersen PK.

    02/6/2016
    our study reveals a previously unappreciated role of reduced BLK expression on extraperitoneal accumulation of B1a cells in mice, as well as the presence of IgG autoantibodies and B1-like cells in humans.

    Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.
    Wu YY, Georg I, Díaz-Barreiro A, Varela N, Lauwerys B, Kumar R, Bagavant H, Castillo-Martín M, El Salem F, Marañón C, Alarcón-Riquelme ME., Free PMC Article

    08/22/2015
    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
    These results place Blk upstream of the p190RhoGAP-RhoA pathway in Galpha13-activated cells, overall representing an opposing signaling module during CXCL12-triggered invasion.

    A Blk-p190RhoGAP signaling module downstream of activated Gα13 functionally opposes CXCL12-stimulated RhoA activation and cell invasion.
    Bartolomé RA, Díaz-Martínez M, Coló GP, Arellano-Sánchez N, Torres-Ayuso P, Kleinovink JW, Mérida I, Teixidó J.

    05/16/2015
    Report role of BLK genetic variants in confering risk of systemic lupus erythematosus in Chinese population.

    Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.
    Zuo XB, Sheng YJ, Hu SJ, Gao JP, Li Y, Tang HY, Tang XF, Cheng H, Yin XY, Wen LL, Sun LD, Yang S, Cui Y, Zhang XJ.

    01/31/2015
    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
    B-lymphoid tyrosine kinase (Blk) is an oncogene and a potential target for therapy with dasatinib in cutaneous T-cell lymphoma

    B-lymphoid tyrosine kinase (Blk) is an oncogene and a potential target for therapy with dasatinib in cutaneous T-cell lymphoma (CTCL).
    Petersen DL, Krejsgaard T, Berthelsen J, Fredholm S, Willerslev-Olsen A, Sibbesen NA, Bonefeld CM, Andersen MH, Francavilla C, Olsen JV, Hu T, Zhang M, Wasik MA, Geisler C, Woetmann A, Odum N., Free PMC Article

    12/6/2014
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