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    SLC6A5 solute carrier family 6 member 5 [ Homo sapiens (human) ]

    Gene ID: 9152, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The allosteric inhibition of glycine transporter 2 by bioactive lipid analgesics is controlled by penetration into a deep lipid cavity.

    The allosteric inhibition of glycine transporter 2 by bioactive lipid analgesics is controlled by penetration into a deep lipid cavity.
    Wilson KA, Mostyn SN, Frangos ZJ, Shimmon S, Rawling T, Vandenberg RJ, O'Mara ML., Free PMC Article

    08/28/2021
    Photoswitchable ORG25543 Congener Enables Optical Control of Glycine Transporter 2.

    Photoswitchable ORG25543 Congener Enables Optical Control of Glycine Transporter 2.
    Mostyn SN, Sarker S, Muthuraman P, Raja A, Shimmon S, Rawling T, Cioffi CL, Vandenberg RJ., Free PMC Article

    07/31/2021
    An overview of hyperekplexia-associated mutations in the neuronal glycine transporter 2 (GlyT2) with special focus on dominant mutations that effect the quaternary structure of GlyT2 (review).

    Hyperekplexia-associated mutations in the neuronal glycine transporter 2.
    López-Corcuera B, Arribas-González E, Aragón C.

    02/15/2020
    analysis of the human SLC6A5 gene mutation associated with hyperekplexia

    Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.
    Arribas-González E, de Juan-Sanz J, Aragón C, López-Corcuera B., Free PMC Article

    04/25/2015
    Report that in the presence of a GlyT2 mechanism-based toxicity, reversible inhibitors might allow a tolerable balance between efficacy and toxicity.

    Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.
    Mingorance-Le Meur A, Ghisdal P, Mullier B, De Ron P, Downey P, Van Der Perren C, Declercq V, Cornelis S, Famelart M, Van Asperen J, Jnoff E, Courade JP., Free PMC Article

    08/9/2014
    Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.

    Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.
    de Juan-Sanz J, Núñez E, López-Corcuera B, Aragón C., Free PMC Article

    09/7/2013
    A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

    A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
    Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B., Free PMC Article

    11/3/2012
    This study firmly establishes the combination of missense, nonsense, frameshift, and splice site mutations in the GlyT2 gene as the second major cause of startle disease.

    Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
    Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ., Free PMC Article

    11/3/2012
    A transgenic cell line is studied in which green fluorescent protein (GFP) is expressed under the control of the promoter for the glycine transporter GlyT2 during zebrafish development.

    Early glycinergic axon contact with the Mauthner neuron during zebrafish development.
    Moly PK, Hatta K.

    05/5/2012
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)See all PubMed (2) articles

    Influence of 5-HTTLPR polymorphism on resting state perfusion in patients with major depression.
    Brockmann H, Zobel A, Schuhmacher A, Daamen M, Joe A, Biermann K, Schwab SG, Biersack HJ, Maier W, Boecker H.

    Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.
    Giegling I, Drago A, Dolžan V, Plesničar BK, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, Stassen HH, Rujescu D, Serretti A.

    12/5/2010
    Inspiratory-modulated neurons with pacemaker properties are present in the preBotzinger complex of newborn transgenic mice and express the glycine tranporter (GlyT)2 protein.

    Glycinergic pacemaker neurons in preBötzinger complex of neonatal mouse.
    Morgado-Valle C, Baca SM, Feldman JL., Free PMC Article

    04/12/2010
    SLC6A5 gene is associated with schizophrenia.

    Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
    Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y, Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y., Free PMC Articles: PMC2491607, PMC2491607

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    Yokoyama K, Urashima M, Ohkido I, Kono T, Yoshida T, Muramatsu M, Niu T, Hosoya T.

    No association of alcohol dependence with SLC6A5 and SLC6A9 glycine transporter polymorphisms.
    Koller G, Zill P, Fehr C, Pogarell O, Bondy B, Soyka M, Preuss UW.

    Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group.

    Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
    Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y, Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y.

    07/30/2008
    results are consistent with GLYT2 being a disease gene in human hyperekplexia

    Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
    Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H.

    01/21/2010
    SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na+ binding sites.

    Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
    Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ., Free PMC Article

    01/21/2010
    Variants not associated with bipolar disorder or schizophrenia.

    No association between genetic variants at the GLYT2 gene and bipolar affective disorder and schizophrenia.
    Jamra RA, Villela AW, Klein K, Becker T, Schulze TG, Schmael C, Deschner M, Klopp N, Illig T, Propping P, Cichon S, Rietschel M, Nöthen MM, Schumacher J.

    01/21/2010
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