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    SLC12A2 solute carrier family 12 member 2 [ Homo sapiens (human) ]

    Gene ID: 6558, updated on 19-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer.

    Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer.
    Chen DY, Zhang YY, Nie HH, Wang HZ, Qiu PS, Wang F, Peng YN, Xu F, Zhao Q, Zhang M., Free PMC Article

    03/8/2024
    NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.

    NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
    Koumangoye R, Bastarache L, Delpire E., Free PMC Article

    02/9/2023
    Cryo-EM structure of the human NKCC1 transporter reveals mechanisms of ion coupling and specificity.

    Cryo-EM structure of the human NKCC1 transporter reveals mechanisms of ion coupling and specificity.
    Neumann C, Rosenbaek LL, Flygaard RK, Habeck M, Karlsen JL, Wang Y, Lindorff-Larsen K, Gad HH, Hartmann R, Lyons JA, Fenton RA, Nissen P., Free PMC Article

    12/10/2022
    [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type ].

    [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type Ⅱ].
    Li Y, Li YL, Liu YL, Fu J, Zhang WW, Piao YS.

    11/12/2022
    Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression.

    Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression.
    Koumangoye R, Penny P, Delpire E., Free PMC Article

    10/15/2022
    NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study.

    NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study.
    Mohaghghegh H, Ananloo ES, Hadjighasem M, Karimipour M, Hashemizadeh S, Abhari SAA.

    08/20/2022
    Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.

    Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
    Adadey SM, Schrauwen I, Aboagye ET, Bharadwaj T, Esoh KK, Basit S, Acharya A, Nouel-Saied LM, Liaqat K, Wonkam-Tingang E, Mowla S, Awandare GA, Ahmad W, Leal SM, Wonkam A., Free PMC Article

    05/21/2022
    PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

    PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
    Vanniya S P, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Cheng L, Shomron N, Srisailapathy CRS.

    01/29/2022
    GWAS Identifies LINC01184/SLC12A2 as a Risk Locus for Skin and Soft Tissue Infections.

    GWAS Identifies LINC01184/SLC12A2 as a Risk Locus for Skin and Soft Tissue Infections.
    Rogne T, Liyanarachi KV, Rasheed H, Thomas LF, Flatby HM, Stenvik J, Løset M, Gill D, Burgess S, Willer CJ, Hveem K, Åsvold BO, Brumpton BM, DeWan AT, Solligård E, Damås JK., Free PMC Article

    11/27/2021
    Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
    Bilal Shamsi M, Saleh M, Almuntashri M, Alharby E, Samman M, Peake RWA, Al-Fadhli FM, Alasmari A, Faqeih EA, Almontashiri NAM.

    09/11/2021
    The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2.

    The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2.
    Zhang S, Zhou J, Zhang Y, Liu T, Friedel P, Zhuo W, Somasekharan S, Roy K, Zhang L, Liu Y, Meng X, Deng H, Zeng W, Li G, Forbush B, Yang M., Free PMC Article

    08/14/2021
    All-Atom Simulations Uncover the Molecular Terms of the NKCC1 Transport Mechanism.

    All-Atom Simulations Uncover the Molecular Terms of the NKCC1 Transport Mechanism.
    Janoš P, Magistrato A.

    08/14/2021
    Blockade of Cell Volume Regulatory Protein NKCC1 Increases TMZ-Induced Glioma Apoptosis and Reduces Astrogliosis.

    Blockade of Cell Volume Regulatory Protein NKCC1 Increases TMZ-Induced Glioma Apoptosis and Reduces Astrogliosis.
    Luo L, Guan X, Begum G, Ding D, Gayden J, Hasan MN, Fiesler VM, Dodelson J, Kohanbash G, Hu B, Amankulor NM, Jia W, Castro MG, Sun B, Sun D.

    06/5/2021
    Novel Human NKCC1 Mutations Cause Defects in Goblet Cell Mucus Secretion and Chronic Inflammation.

    Novel Human NKCC1 Mutations Cause Defects in Goblet Cell Mucus Secretion and Chronic Inflammation.
    Koumangoye R, Omer S, Kabeer MH, Delpire E., Free PMC Article

    05/8/2021
    A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism.

    A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism.
    Omer S, Koumangoye R, Delpire E., Free PMC Article

    03/20/2021
    Expression of Cl(-) channels/transporters in nasal polyps.

    Expression of Cl(-) channels/transporters in nasal polyps.
    Nguyen TN, Do BH, Kitamura T, Ohkubo JI, Wakasugi T, Ohbuchi T, Suzuki H.

    02/20/2021
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
    McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E., Free PMC Article

    01/2/2021
    Does the circadian clock make RPE-mediated ion transport ""tick"" via SLC12A2 (NKCC1)?

    Does the circadian clock make RPE-mediated ion transport "tick" via SLC12A2 (NKCC1)?
    Milićević N, Duursma A, Ten Asbroek ALMA, Felder-Schmittbuhl MP, Bergen AA.

    10/3/2020
    study suggests that variants affecting exon 21 of the SLC12A2 transcript are responsible for hereditary hearing loss in humans

    Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
    Mutai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Kubo M, Matsunaga T., Free PMC Article

    07/25/2020
    Report a cryo-EM structure of NKCC1 captured in a partially loaded, inward-open state. NKCC1 assembles into a dimer, with the first ten transmembrane (TM) helices harboring the transport core and TM11-TM12 helices lining the dimer interface.

    Structure of the human cation-chloride cotransporter NKCC1 determined by single-particle electron cryo-microscopy.
    Yang X, Wang Q, Cao E., Free PMC Article

    05/9/2020
    An increase in Na-K-2Cl cotransporter-1 transcripts was found in the caudate nucleus of Huntington's disease patients.

    Enhanced Na(+) -K(+) -2Cl(-) cotransporter 1 underlies motor dysfunction in huntington's disease.
    Hsu YT, Chang YG, Liu YC, Wang KY, Chen HM, Lee DJ, Yang SS, Tsai CH, Lien CC, Chern Y.

    03/14/2020
    NKCC1 activity promotes the epithelial-mesenchymal transition-like process in gliomas via RhoA and Rac1 signaling pathways.

    NKCC1 promotes EMT-like process in GBM via RhoA and Rac1 signaling pathways.
    Ma H, Li T, Tao Z, Hai L, Tong L, Yi L, Abeysekera IR, Liu P, Xie Y, Li J, Yuan F, Zhang C, Yang Y, Ming H, Yu S, Yang X., Free PMC Article

    12/14/2019
    We found a significant relationship between TLE [temporal lobe epilepsy] and methylation on the NKCC1. The methylation of NKCC1 can be a mecha-nism of refractory temporal lobe epilepsy.

    The methylation status of NKCC1 and KCC2 in the patients with refractory temporal lobe epilepsy.
    Unal Y , Kara M , Genc F , Aslan Oztruk D , Bicer Gomceli Y , Kaynar T , Tosun K , Kutlu G .

    07/6/2019
    Study significantly lower NKCC1 DNA methylation and significantly higher KCC2 DNA methylation levels in patients with juvenile myoclonic epilepsy (JME) compared with the healthy controls. This implies that NKCC1 expression can be higher and KCC2 expression can be reduced in affected people.

    Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy.
    Genç F, Kara M, Ünal Y, Uygur Küçükseymen E, Biçer Gömceli Y, Kaynar T, Tosun K, Kutlu G.

    06/15/2019
    NKCC1 not only controls cell volume and Cl- concentration, but it can also regulate the actin cytoskeleton through Cofilin 1.

    NKCC1 Regulates Migration Ability of Glioblastoma Cells by Modulation of Actin Dynamics and Interacting with Cofilin.
    Schiapparelli P, Guerrero-Cazares H, Magaña-Maldonado R, Hamilla SM, Ganaha S, Goulin Lippi Fernandes E, Huang CH, Aranda-Espinoza H, Devreotes P, Quinones-Hinojosa A., Free PMC Article

    04/14/2018
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