SLC6A5 (solute carrier family 6 member 5)

2014-11-01  

Identity

HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
GLYT-2,GLYT2,HKPX3,NET1
FUSION GENES

Other Information

Locus ID:

NCBI: 9152
MIM: 604159
HGNC: 11051
Ensembl: ENSG00000165970

Variants:

dbSNP: 9152
ClinVar: 9152
TCGA: ENSG00000165970
COSMIC: SLC6A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165970ENST00000298923J3KNC4
ENSG00000165970ENST00000525748Q9Y345

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Na+/Cl- dependent neurotransmitter transportersREACTOMER-HSA-442660

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD20859245
PA449841haloperidolChemicalClinicalAnnotation, MultilinkAnnotationassociatedPD20859245, 27023437

References

Pubmed IDYearTitleCitations
167517712006Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.70
202199972010Glycinergic pacemaker neurons in preBötzinger complex of neonatal mouse.50
190860532009Identification 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.34
227009642012Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.30
168846882006Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.26
227534172012A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.18
234840542013Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.13
254807932015Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.10
239620792013Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.9
186383882008Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.7

Citation

Dessen P

SLC6A5 (solute carrier family 6 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73477/slc6a5