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    TSPAN12 tetraspanin 12 [ Homo sapiens (human) ]

    Gene ID: 23554, updated on 11-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    METTL3-mediated m[6]A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.

    METTL3-mediated m(6)A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I.
    Li B, Xiong X, Xu J, Peng D, Nie G, Wen N, Wang Y, Lu J.

    04/2/2024
    Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.

    Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
    Ju Y, Chen T, Ruan L, Zhao Y, Chang Q, Huang X., Free PMC Article

    03/5/2024
    Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.

    Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
    Wang Y, Lai Y, Jiang Z, Li S, Ding X.

    08/28/2023
    Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.

    Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
    Wang Y, Wang Q, Li S, Ding X., Free PMC Article

    06/1/2023
    Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.

    Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
    Jiang Z, Wang P., Free PMC Article

    04/14/2023
    A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.

    A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
    Zhao R, Dai E, Wang S, Zhang X, He Y, Peng L, Zhao P, Yang Z, Yang M, Li S.

    02/11/2023
    TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.

    TSPAN12 (Tetraspanin 12) Is a Novel Negative Regulator of Aldosterone Production in Adrenal Physiology and Aldosterone-Producing Adenomas.
    Gong S, Tetti M, Kemter E, Peitzsch M, Mulatero P, Bidlingmaier M, Eisenhofer G, Wolf E, Reincke M, Williams TA.

    01/28/2023
    A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

    A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
    Peng L, Dai E, Xiao H, Zhao R, He Y, Li S, Yang M, Yang Z, Zhao P., Free PMC Article

    06/18/2022
    A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

    A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
    Zou G, Qi R, Ma M, Fu S, Liang Q, Bi X, Wang C, Hu X, Cai Y, Sheng X.

    05/14/2022
    Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.

    Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.
    Song Z, Li M, Wang C, Wang Y, Zhang L, Li N, Yang R, Sun P.

    04/30/2022
    Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk.

    Loss of Endothelial TSPAN12 Promotes Fibrostenotic Eosinophilic Esophagitis via Endothelial Cell-Fibroblast Crosstalk.
    Shoda T, Wen T, Caldwell JM, Ben-Baruch Morgenstern N, Osswald GA, Rochman M, Mack LE, Felton JM, Abonia JP, Arva NC, Atkins D, Bonis PA, Capocelli KE, Collins MH, Dellon ES, Falk GW, Gonsalves N, Gupta SK, Hirano I, Leung J, Menard-Katcher PA, Mukkada VA, Putnam PE, Rudman Spergel AK, Spergel JM, Wechsler JB, Yang GY, Aceves SS, Furuta GT, Rothenberg ME, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) Investigators Group., Free PMC Article

    02/26/2022
    Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.

    Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.
    Tao T, Meng X, Xu N, Li J, Cheng Y, Chen Y, Huang L., Free PMC Article

    01/22/2022
    Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.

    Five novel copy number variations detected in patients with familial exudative vitreoretinopathy.
    Luo J, Li J, Zhang X, Li JK, Chen HJ, Zhao PQ, Fei P., Free PMC Article

    01/22/2022
    Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.

    Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.
    Chen C, Yang M, Huang L, Zhao R, Sundaresan P, Zhu X, Li S, Yang Z.

    12/18/2021
    Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.

    Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.
    Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q.

    10/9/2021
    Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity.

    Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity.
    Zhang T, Sun X, Han J, Han M.

    08/29/2020
    Up-regulated miR-196b-5p promotes lung cancer cell migration, proliferation, and cell cycle through directly targeting the tumor suppressors, GATA6 and TSPAN12.

    miR-196b-5p-mediated downregulation of TSPAN12 and GATA6 promotes tumor progression in non-small cell lung cancer.
    Liang G, Meng W, Huang X, Zhu W, Yin C, Wang C, Fassan M, Yu Y, Kudo M, Xiao S, Zhao C, Zou P, Wang Y, Li X, Croce CM, Cui R., Free PMC Article

    07/18/2020
    Heterozygous mutation in TSPAN12 gene is associated with familial exudative vitreoretinopathy.

    Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant.
    Carroll RM, Kim BJ.

    06/13/2020
    Four novel heterozygous TSPAN12 (Tetraspanin 12) mutations, including two single-base substitution mutations and two small-deletion mutations, were identified in four Chinese familial exudative vitreoretinopathy families: c.1A>G (p.0), c.614G>A (p.G205D), c.695delT (p.V232Gfs*7), and c.833_842del (p.L278Qfs*25).

    Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy.
    Yuan Y, Xu H, Zhang S, Zhang X, Zhang L, Yang Z.

    05/9/2020
    tetraspanin 7 cytoplasmic ends has epitopes that are recognized by autoantibodies in type 1 diabetes

    Cytoplasmic ends of tetraspanin 7 harbour epitopes recognised by autoantibodies in type 1 diabetes.
    Eugster A, Kraus G, Lidzba V, Müller D, Jolink M, Ziegler AG, Bonifacio E.

    02/15/2020
    TSPAN12 could be a novel molecular target for the treatment of ovarian cancer.

    TSPAN12 Precedes Tumor Proliferation by Cell Cycle Control in Ovarian Cancer.
    Ji G, Liang H, Wang F, Wang N, Fu S, Cui X., Free PMC Article

    12/28/2019
    The positive rate for pathogenic mutations in the known FEVR-associated genes was 38.9% (21/54). Among the mutations, LRP5 mutation was the predominant, accounting for 66.7% (14/21) of genetic positive patients. Patients with FEVR-RRD due to LRP5 mutations have less retinal vascular leakage or neovasculization than do patients with FEVR-RRD due to TSPAN12/FZD4 mutations.

    Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment.
    Chen C, Wang Z, Sun L, Huang S, Li S, Zhang A, Luo X, Huang L, Ding X.

    12/7/2019
    Our data indicate FEVR status is associated with a significantly smaller FAZ, decreased vascular density in the fovea. In addition, patients with the LRP5 mutation had a milder phenotype than those with the FDZ4 or TSPAN12 mutations.

    Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation.
    Chen C, Liu C, Wang Z, Sun L, Zhao X, Li S, Luo X, Zhang A, Chong V, Lu L, Ding X.

    05/25/2019
    This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes.

    The characteristics of digenic familial exudative vitreoretinopathy.
    Li Y, Peng J, Li J, Zhang Q, Li J, Zhang X, Fei P, She K, Zhao P.

    11/3/2018
    We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for Familial exudative vitreoretinopathy (FEVR).

    Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
    Huang XY, Zhuang H, Wu JH, Li JK, Hu FY, Zheng Y, Tellier LCAM, Zhang SH, Gao FJ, Zhang JG, Xu GZ., Free PMC Article

    04/14/2018
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