SLC6A5 (solute carrier family 6 member 5)

2014-11-01  

Identity

HGNC
SLC6A5
LOCATION
11p15.1
LOCUSID
9152
ALIAS
GLYT-2,GLYT2,HKPX3,NET1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
334502252021The allosteric inhibition of glycine transporter 2 by bioactive lipid analgesics is controlled by penetration into a deep lipid cavity.5
334502252021The allosteric inhibition of glycine transporter 2 by bioactive lipid analgesics is controlled by penetration into a deep lipid cavity.5
321914282020Photoswitchable ORG25543 Congener Enables Optical Control of Glycine Transporter 2.5
321914282020Photoswitchable ORG25543 Congener Enables Optical Control of Glycine Transporter 2.5
298592292019Hyperekplexia-associated mutations in the neuronal glycine transporter 2.5
298592292019Hyperekplexia-associated mutations in the neuronal glycine transporter 2.5
254807932015Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.16
254807932015Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.16
234840542013Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.16
239620792013Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.22
234840542013Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.16
239620792013Reversible inhibition of the glycine transporter GlyT2 circumvents acute toxicity while preserving efficacy in the treatment of pain.22
227009642012Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.40
227534172012A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.22
227009642012Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.40

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-(solute-carrier-family-6-member-5)