Property Summary

NCBI Gene PubMed Count 29
Grant Count 3
Funding $56,231.5
PubMed Score 183.74
PubTator Score 38.45

Knowledge Summary

Patent

No data available

Synonym

Accession Q9Y345 O95288 Q4VAM7 Q9BX77 GlyT-2
Symbols NET1
GLYT2
HKPX3
GLYT-2

Gene

PANTHER Protein Class (2)

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.
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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.
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