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    SLC26A3 solute carrier family 26 member 3 [ Homo sapiens (human) ]

    Gene ID: 1811, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.

    Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
    Li Q, Wang J, Zang R, Yu L, Yang Z, Sun S., Free PMC Article

    07/1/2024
    SLC26A3 (DRA) is stimulated in a synergistic, intracellular Ca[2+]-dependent manner by cAMP and ATP in intestinal epithelial cells.

    SLC26A3 (DRA) is stimulated in a synergistic, intracellular Ca(2+)-dependent manner by cAMP and ATP in intestinal epithelial cells.
    Sarker R, Lin R, Singh V, Donowitz M, Tse CM., Free PMC Article

    06/7/2023
    The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.

    The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.
    Krawczyk M, Niewiadomska O, Jankowska I, Jankowski K, Świderska J, Lebensztejn D, Więcek S, Gozdowska J, Kułaga Z, Weber SN, Lammert F, Socha P.

    11/26/2022
    Slc26a3 (DRA) in the Gut: Expression, Function, Regulation, Role in Infectious Diarrhea and Inflammatory Bowel Disease.

    Slc26a3 (DRA) in the Gut: Expression, Function, Regulation, Role in Infectious Diarrhea and Inflammatory Bowel Disease.
    Yu Q.

    02/12/2022
    Segmental differences in Slc26a3-dependent Cl(-) absorption and HCO3(-) secretion in the mouse large intestine in vitro in Ussing chambers.

    Segmental differences in Slc26a3-dependent Cl(-) absorption and HCO(3)(-) secretion in the mouse large intestine in vitro in Ussing chambers.
    Hayashi H, Nagai H, Ohba KI, Soleimani M, Suzuki Y., Free PMC Article

    11/13/2021
    A Novel Role of SLC26A3 in the Maintenance of Intestinal Epithelial Barrier Integrity.

    A Novel Role of SLC26A3 in the Maintenance of Intestinal Epithelial Barrier Integrity.
    Kumar A, Priyamvada S, Ge Y, Jayawardena D, Singhal M, Anbazhagan AN, Chatterjee I, Dayal A, Patel M, Zadeh K, Saksena S, Alrefai WA, Gill RK, Zadeh M, Zhao N, Mohamadzadeh M, Dudeja PK., Free PMC Article

    08/7/2021
    All-trans Retinoic Acid Counteracts Diarrhea and Inhibition of Downregulated in Adenoma Expression in Gut Inflammation.

    All-trans Retinoic Acid Counteracts Diarrhea and Inhibition of Downregulated in Adenoma Expression in Gut Inflammation.
    Priyamvada S, Anbazhagan AN, Kumar A, Chatterjee I, Borthakur A, Saksena S, Gill RK, Alrefai WA, Dudeja PK., Free PMC Article

    04/13/2021
    SNX27 directly interacts with DRA in early endosomes at the apical pole of intestinal Caco2 cells and mediates its direct recycling to facilitate high activity in lipid rafts in the apical plasma membrane.

    SNX27 regulates DRA activity and mediates its direct recycling by PDZ-interaction in early endosomes at the apical pole of Caco2 cells.
    Bannert K, Berlin P, Reiner J, Lemcke H, David R, Engelmann R, Lamprecht G.

    08/1/2020
    Genetic analysis of SLC26A3 provided definitive diagnosis of CCD. In contrast with previously reported localities, c.2063-1g>t might be a founder mutation in East Asia.

    Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
    Konishi KI, Mizuochi T, Yanagi T, Watanabe Y, Ohkubo K, Ohga S, Maruyama H, Takeuchi I, Sekine Y, Masuda K, Kikuchi N, Yotsumoto Y, Ohtsuka Y, Tanaka H, Kudo T, Noguchi A, Fuwa K, Mushiake S, Ida S, Fujishiro J, Yamashita Y, Taguchi T, Yamamoto K.

    05/23/2020
    Decreased SLC26A3 expression and function in intestinal epithelial cells in response to Cryptosporidium parvum infection has been reported in humans and mice.

    Decreased SLC26A3 expression and function in intestinal epithelial cells in response to Cryptosporidium parvum infection.
    Kumar A, Jayawardena D, Anbazhagan AN, Chatterjee I, Priyamvada S, Alrefai WA, Borthakur A, Dudeja PK., Free PMC Article

    04/11/2020
    SLC26A3 c.392C>G (p.P131R) can reduce the expression of SLC26A3 protein, increase the monolayer permeability of intestinal epithelial cells, and thus lead to diarrhea

    [Establishment of a congenital chloride diarrhea-associated SLC26A3 c.392C>G (p.P131R) polymorphism-expressing cell model and a preliminary analysis of its mechanism of action].
    Zhang NN, Guo HW, Lin Y, Zhang W, Zhang W, Wang BX, Jiang X., Free PMC Article

    11/30/2019
    The loss of N-glycosylation had no effect on the stability of SLC26A3, yet resulted in a profound decrease in transport activity.

    Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins (1).
    Rapp CL, Li J, Badior KE, Williams DB, Casey JR, Reithmeier RAF.

    09/14/2019
    missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

    A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.
    Wedenoja S, Khamaysi A, Shimshilashvili L, Anbtawe-Jomaa S, Elomaa O, Toppari J, Höglund P, Aittomäki K, Holmberg C, Hovatta O, Tapanainen JS, Ohana E, Kere J., Free PMC Article

    07/6/2019
    DRA is acutely stimulated by cyclic AMP by a process that is CFTR-dependent.

    cAMP Stimulates SLC26A3 Activity in Human Colon by a CFTR-Dependent Mechanism That Does Not Require CFTR Activity.
    Tse CM, Yin J, Singh V, Sarker R, Lin R, Verkman AS, Turner JR, Donowitz M., Free PMC Article

    06/8/2019
    role in protecting the intestinal epithelial barrier

    SLC26A3 (DRA) prevents TNF-alpha-induced barrier dysfunction and dextran sulfate sodium-induced acute colitis.
    Ding X, Li D, Li M, Wang H, He Q, Wang Y, Yu H, Tian D, Yu Q.

    03/9/2019
    study found that the rs2108225 variation in SLC26A3 might increase the risk of ulcerative colitis (UC) and affect its expression at both the mRNA and protein levels in colonic tissues of patients with UC; the rs17154444 variation might influence the severity of UC

    Association of ulcerative colitis with solute-linked carrier family 26 member A3 gene polymorphisms and its expression in colonic tissues in Chinese patients.
    Shao XX, Lin DP, Sun L, Wu CQ, Yang W, Jiang Y.

    02/9/2019
    TNFalpha may act reciprocally with DRA, leading to the development of intestinal inflammation.

    Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation.
    Ding X, Li D, Li M, Tian D, Yu H, Yu Q., Free PMC Article

    08/4/2018
    Results indicate the involvement of SLC26A3 along with SLC26A6 in transporting HCO3(-) essential for embryo cleavage, possibly working in concert with CFTR through a Cl(-) recycling pathway.

    Involvement of Cl(-)/HCO3(-) exchanger SLC26A3 and SLC26A6 in preimplantation embryo cleavage.
    Lu YC, Yang J, Fok KL, Ye YH, Jin L, Chen ZY, Zhang XM, Huang HF, Chan HC., Free PMC Article

    05/5/2018
    This study confirms the molecular heterogeneity of sporadic congenital chloride diarrhea, adding 12 novel SLC26A3 mutations to the list of known pathogenic mutations.

    Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
    Amato F, Cardillo G, Liguori R, Scorza M, Comegna M, Elce A, Giordano S, Lucaccioni L, Lugli L, Cardile S, Romano C, Pezzella V, Castaldo G, Berni Canani R.

    03/24/2018
    Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented.

    Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
    Rapp C, Bai X, Reithmeier RAF.

    02/10/2018
    In intestinal cells, TNF activates NF-kappaB, which reduces expression of the Cl(-) / HCO3(-) exchanger SLC26A3, via direct binding to the promoter region.

    Activation of Nuclear Factor-κB by Tumor Necrosis Factor in Intestinal Epithelial Cells and Mouse Intestinal Epithelia Reduces Expression of the Chloride Transporter SLC26A3.
    Kumar A, Chatterjee I, Gujral T, Alakkam A, Coffing H, Anbazhagan AN, Borthakur A, Saksena S, Gill RK, Alrefai WA, Dudeja PK., Free PMC Article

    11/18/2017
    Genetic variations of the SLC26A3 rs2108225 is associated with enhance the risk of ulcerative colitis.

    [Association of solute-linked carrier family 26 member A3 gene polymorphisms with ulcerative colitis among Chinese patients].
    Shao X, Min X, Xia X, Lin X, Jiang L, Ding R, Jiang Y.

    09/16/2017
    We report the first Tunisian case of SLC26A3 gene mutation in congenital chloride diarrhea. Our patient was homozygous for G187X mutation. Both parents were heterozygous for the same mutation.

    SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea.
    Azzabi O, Fetni I, Selmi I, Halioui S, Ben Hariz M, Giuseppe C, Siala N, Maherzi A.

    01/14/2017
    Expression of NHE3 and DRA was reduced with high tacrolimus levels and impaired renal function after intestinal transplantation.

    After Intestinal Transplantation Kidney Function Is Impaired by Downregulation of Epithelial Ion Transporters in the Ileum.
    Reiner J, Hsieh CJ, Straarup C, Bodammer P, Schäffler H, Graepler F, Stüker D, Kratt T, Linnebacher M, Nadalin S, Witte M, Königsrainer A, Lamprecht G.

    01/14/2017
    A variety of mutations in SLC26A3 are responsible for CCD. A total of 55 mutations in SLC26A3 have been reported

    Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
    Fuwa K, Hosono S, Nagano N, Munakata S, Fukamachi R, Okada T, Takahashi S, Takahashi S, Sato N, Nakayama T.

    12/17/2016
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