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    SPTBN1 spectrin beta, non-erythrocytic 1 [ Homo sapiens (human) ]

    Gene ID: 6711, updated on 17-Aug-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Postsynaptic beta1 spectrin maintains Na[+] channels at the neuromuscular junction.

    Postsynaptic β1 spectrin maintains Na(+) channels at the neuromuscular junction.
    Sert O, Ding X, Zhang C, Mi R, Hoke A, Rasband MN.,

    08/1/2024
    Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.

    Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.
    Jung J, Wu Q., Free PMC Article

    05/7/2024
    Tumor cell SPTBN1 inhibits M2 polarization of macrophages by suppressing CXCL1 expression.

    Tumor cell SPTBN1 inhibits M2 polarization of macrophages by suppressing CXCL1 expression.
    Wu H, Jiang N, Li J, Jin Q, Jin J, Guo J, Wei X, Wang X, Yao L, Meng D, Zhi X.

    02/5/2024
    SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma.

    SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma.
    Teveroni E, Di Nicuolo F, Vergani E, Oliva A, Vodola EP, Bianchetti G, Maulucci G, De Spirito M, Cenci T, Pierconti F, Gulino G, Iavarone F, Urbani A, Milardi D, Pontecorvi A, Mancini F., Free PMC Article

    12/20/2023
    Clinical significance of nonerythrocytic spectrin Beta 1 (SPTBN1) in human kidney renal clear cell carcinoma and uveal melanoma: a study based on Pan-Cancer Analysis.

    Clinical significance of nonerythrocytic spectrin Beta 1 (SPTBN1) in human kidney renal clear cell carcinoma and uveal melanoma: a study based on Pan-Cancer Analysis.
    Tang W, Shao Q, He Z, Zhang X, Li X, Wu R., Free PMC Article

    04/7/2023
    SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.

    SPTBN1 abrogates renal clear cell carcinoma progression via glycolysis reprogramming in a GPT2-dependent manner.
    Wu J, Miao C, Wang Y, Wang S, Wang Z, Liu Y, Wang X, Wang Z., Free PMC Article

    12/24/2022
    SPTBN1 attenuates rheumatoid arthritis synovial cell proliferation, invasion, migration and inflammatory response by binding to PIK3R2.

    SPTBN1 attenuates rheumatoid arthritis synovial cell proliferation, invasion, migration and inflammatory response by binding to PIK3R2.
    Dai LP, Xu XD, Yang TT, Yin ZH, Ye ZZ, Wei YZ., Free PMC Article

    12/3/2022
    SPTBN1 inhibits growth and epithelial-mesenchymal transition in breast cancer by downregulating miR-21.

    SPTBN1 inhibits growth and epithelial-mesenchymal transition in breast cancer by downregulating miR-21.
    Wu H, Chen S, Liu C, Li J, Wei X, Jia M, Guo J, Jin J, Meng D, Zhi X.

    01/29/2022
    Heterozygous variants in SPTBN1 cause intellectual disability and autism.

    Heterozygous variants in SPTBN1 cause intellectual disability and autism.
    Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Undiagnosed Diseases Network, Yang Y, Posey JE, Lee BH., Free PMC Article

    01/8/2022
    betaII spectrin (SPTBN1): biological function and clinical potential in cancer and other diseases.

    βII spectrin (SPTBN1): biological function and clinical potential in cancer and other diseases.
    Yang P, Yang Y, Sun P, Tian Y, Gao F, Wang C, Zong T, Li M, Zhang Y, Yu T, Jiang Z., Free PMC Article

    01/8/2022
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
    Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network, Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN., Free PMC Article

    10/16/2021
    SPTBN1 inhibits inflammatory responses and hepatocarcinogenesis via the stabilization of SOCS1 and downregulation of p65 in hepatocellular carcinoma.

    SPTBN1 inhibits inflammatory responses and hepatocarcinogenesis via the stabilization of SOCS1 and downregulation of p65 in hepatocellular carcinoma.
    Lin L, Chen S, Wang H, Gao B, Kallakury B, Bhuvaneshwar K, Cahn K, Gusev Y, Wang X, Wu Y, Marshall JL, Zhi X, He AR., Free PMC Article

    07/31/2021
    SPTBN1 suppresses the progression of epithelial ovarian cancer via SOCS3-mediated blockade of the JAK/STAT3 signaling pathway.

    SPTBN1 suppresses the progression of epithelial ovarian cancer via SOCS3-mediated blockade of the JAK/STAT3 signaling pathway.
    Chen M, Zeng J, Chen S, Li J, Wu H, Dong X, Lei Y, Zhi X, Yao L., Free PMC Article

    02/27/2021
    Data suggeset the novel mutation (c.5650G > C/p.Ala1884Pro) of beta-spectrin (SPTB) to be the genetic lesion in this family of hereditary spherocytosis (HS).

    Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
    Fan LL, Liu JS, Huang H, Du R, Xiang R.

    04/11/2020
    beta2 spectrin induced the differentiation of liver cancer stem cells, and then repressed the CSCs properties in liver tumorinitiating cells. Transduction of beta2SP into liver CSCs resulted in a reduction in colony formation ability, spheroid formation capacity, invasive activity, chemo-resistance properties, tumorigenicity in vivo.

    β2 spectrin-mediated differentiation repressed the properties of liver cancer stem cells through β-catenin.
    Chen Y, Meng L, Shang H, Dou Q, Lu Z, Liu L, Wang Z, He X, Song Y., Free PMC Article

    03/28/2020
    c-Met overexpression, HER-2 gene amplification, and SPTBN1-ALK gene fusion can coexist in lung adenocarcinoma and may become a potential biomarker of cancer refractory to crizotinib, chemotherapy, and radiotherapy as well as of a relatively poor prognosis.

    Lung adenocarcinoma harboring concomitant SPTBN1-ALK fusion, c-Met overexpression, and HER-2 amplification with inherent resistance to crizotinib, chemotherapy, and radiotherapy.
    Gu FF, Zhang Y, Liu YY, Hong XH, Liang JY, Tong F, Yang JS, Liu L., Free PMC Article

    12/2/2017
    Subjects whose head and neck tumors expressed spectrin were 4.60 times more likely (hazard ratio; 95% confidence interval: 1.88-11.25) to die at any given time when compared with those without spectrin (P = .001).

    Candidate Biomarkers for HPV-Negative Head and Neck Cancer Identified via Gene Expression Barcode Analysis.
    Yang SF, Bier-Laning CM, Adams W, Zilliox MJ.

    07/22/2017
    TGF-beta1 and ELF protein are potential and reliable biomarkers for predicting prognosis in HCC patients after hepatic resection.

    The prognostic value of combined TGF-β1 and ELF in hepatocellular carcinoma.
    Ji F, Fu SJ, Shen SL, Zhang LJ, Cao QH, Li SQ, Peng BG, Liang LJ, Hua YP., Free PMC Article

    01/2/2016
    betaII spectrin is critical for normal myocyte electric activity. Dysfunction in the betaII spectrin-dependent cytoskeleton in cardiomyocytes contributes to human arrhythmia.

    Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia.
    Smith SA, Sturm AC, Curran J, Kline CF, Little SC, Bonilla IM, Long VP, Makara M, Polina I, Hughes LD, Webb TR, Wei Z, Wright P, Voigt N, Bhakta D, Spoonamore KG, Zhang C, Weiss R, Binkley PF, Janssen PM, Kilic A, Higgins RS, Sun M, Ma J, Dobrev D, Zhang M, Carnes CA, Vatta M, Rasband MN, Hund TJ, Mohler PJ., Free PMC Article

    04/25/2015
    decreased SPTBN1 and kallistatin gene expression associated with decreased relapse-free survival in hepatocellular carcinoma

    βII-Spectrin (SPTBN1) suppresses progression of hepatocellular carcinoma and Wnt signaling by regulation of Wnt inhibitor kallistatin.
    Zhi X, Lin L, Yang S, Bhuvaneshwar K, Wang H, Gusev Y, Lee MH, Kallakury B, Shivapurkar N, Cahn K, Tian X, Marshall JL, Byers SW, He AR., Free PMC Article

    04/4/2015
    in human HCC tissues, SPTBN1 expression correlated negatively with expression levels of STAT3, ATF3, and CREB2; SMAD3 expression correlated negatively with STAT3 expression

    Transcriptional regulation of STAT3 by SPTBN1 and SMAD3 in HCC through cAMP-response element-binding proteins ATF3 and CREB2.
    Lin L, Yao Z, Bhuvaneshwar K, Gusev Y, Kallakury B, Yang S, Shetty K, He AR.

    03/21/2015
    genetic association study in population of 1,012 Han women in China: Data suggest that an SNP in SPTBN1 (rs11898505) is associated with osteoporotic fractures and bone mineral density of lumbar spine in aging women.

    The influence of the genetic and non-genetic factors on bone mineral density and osteoporotic fractures in Chinese women.
    Deng YH, Zhao L, Zhang MJ, Pan CM, Zhao SX, Zhao HY, Sun LH, Tao B, Song HD, Wang WQ, Ning G, Liu JM.

    06/15/2013
    These results suggest that alpha-synuclein modulates neurite outgrowth by interacting with cytoskeletal proteins such as SPTBN1.

    α-Synuclein modulates neurite outgrowth by interacting with SPTBN1.
    Lee HJ, Lee K, Im H.

    11/24/2012
    Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers.

    Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.
    Song Y, Antoniou C, Memic A, Kay BK, Fung LW., Free PMC Article

    08/6/2011
    Results suggest that epigenetic silencing of SPTBN1 (beta2SP) is a new potential causal factor in BWS patients.

    Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome.
    Yao ZX, Jogunoori W, Choufani S, Rashid A, Blake T, Yao W, Kreishman P, Amin R, Sidawy AA, Evans SR, Finegold M, Reddy EP, Mishra B, Weksberg R, Kumar R, Mishra L., Free PMC Article

    02/26/2011
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