Property Summary

NCBI Gene PubMed Count 29
PubMed Score 183.74
PubTator Score 38.45

Knowledge Summary

Patent

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TINX Plot

  Disease (4)

Gene RIF (17)

PMID Text
25480793 analysis of the human SLC6A5 gene mutation associated with hyperekplexia
23962079 Report that in the presence of a GlyT2 mechanism-based toxicity, reversible inhibitors might allow a tolerable balance between efficacy and toxicity.
23484054 Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.
22753417 A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
22700964 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.
21397641 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.
20934189 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20859245 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20219997 Inspiratory-modulated neurons with pacemaker properties are present in the preBotzinger complex of newborn transgenic mice and express the glycine tranporter (GlyT)2 protein.
19650813 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18638388 SLC6A5 gene is associated with schizophrenia.
18638388 Observational study of gene-disease association. (HuGE Navigator)
16884688 results are consistent with GLYT2 being a disease gene in human hyperekplexia
16751771 SLC6A5 mutations result in defective subcellular GlyT2 localization, decreased glycine uptake or both, with selected mutations affecting predicted glycine and Na+ binding sites.
16691125 Variants not associated with bipolar disorder or schizophrenia.

AA Sequence

MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQTFQSADARAC      1 - 70
EAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGT     71 - 140
LERNNTPVVGWVNMSQSTVVLATDGITSVLPGSVATVATQEDEQGDENKARGNWSSKLDFILSMVGYAVG    141 - 210
LGNVWRFPYLAFQNGGGAFLIPYLMMLALAGLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIIS    211 - 280
VLIAIYYNVIICYTLFYLFASFVSVLPWGSCNNPWNTPECKDKTKLLLDSCVISDHPKIQIKNSTFCMTA    281 - 350
YPNVTMVNFTSQANKTFVSGSEEYFKYFVLKISAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGK    351 - 420
VVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKDAATQIFFSLSAAWGGLITLSS    421 - 490
YNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANERKVNIENVADQGPGIAFVVYPEALTRLPLS    491 - 560
PFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRTHKPVFTLGCCICFFIMGFPMITQGGIYMFQ    561 - 630
LVDTYAASYALVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNIFWKVCWAFVTPTILTFILCFSFYQW    631 - 700
EPMTYGSYRYPNWSMVLGWLMLACSVIWIPIMFVIKMHLAPGRFIERLKLVCSPQPDWGPFLAQHRGERY    701 - 770
KNMIDPLGTSSLGLKLPVKDLELGTQC                                               771 - 797
//

Text Mined References (30)

PMID Year Title
25480793 2015 Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.
23962079 2013 Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.
23484054 2013 Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22753417 2012 A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
22700964 2012 Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
21397641 2011 Early glycinergic axon contact with the Mauthner neuron during zebrafish development.
20934189 2011 Influence of 5-HTTLPR polymorphism on resting state perfusion in patients with major depression.
20859245 2011 Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol.
20424473 2010 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.
20219997 2010 Glycinergic pacemaker neurons in preBötzinger complex of neonatal mouse.
19650813 2009 No association of alcohol dependence with SLC6A5 and SLC6A9 glycine transporter polymorphisms.
19086053 2009 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.
18638388 2008 Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16884688 2006 Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
16751771 2006 Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
16691125 2006 No association between genetic variants at the GLYT2 gene and bipolar affective disorder and schizophrenia.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15124103 2004 The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
14675166 2004 Calpain-mediated proteolytic cleavage of the neuronal glycine transporter, GlyT2.
12738009 2003 Two approaches to double post-embedding immunogold labeling of freeze-substituted tissue embedded in low temperature Lowicryl HM20 resin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12091465 2002 Glycine transporter isoforms show differential subcellular localization in PC12 cells.
11709067 2001 Regulation of glycine transporters.
11036075 2001 The role of N-glycosylation in transport to the plasma membrane and sorting of the neuronal glycine transporter GLYT2.
10606742 1999 Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter.
10381548 1999 Characterization of multiple forms of the human glycine transporter type-2.
9845349 1998 Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome.