SLC6A12 (solute carrier family 6 member 12)

2014-11-01  

Identity

HGNC
LOCATION
12p13.33
LOCUSID
ALIAS
BGT-1,BGT1,GAT2

Other Information

Locus ID:

NCBI: 6539
MIM: 603080
HGNC: 11045
Ensembl: ENSG00000111181

Variants:

dbSNP: 6539
ClinVar: 6539
TCGA: ENSG00000111181
COSMIC: SLC6A12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111181ENST00000359674P48065
ENSG00000111181ENST00000397296P48065
ENSG00000111181ENST00000424061P48065
ENSG00000111181ENST00000535347F5H4L6
ENSG00000111181ENST00000536824P48065
ENSG00000111181ENST00000537793F5H2T6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
Reuptake of GABAREACTOMER-HSA-888593
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Amino acid transport across the plasma membraneREACTOMER-HSA-352230
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
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD20597903
PA448497aspirinChemicalClinicalAnnotationassociatedPD20597903

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
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
205979032010Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population.10
205979032010Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population.10
161980202005GABA and glutamate transporters are expressed in human platelets.6
213674622011Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.4
121118242002Gamma-aminobutyric acid transporter (BGT-1) expressed in human astrocytoma U373 MG cells: pharmacological and molecular characterization and phorbol ester-induced inhibition.3
248295062014Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress.1
266905182015Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy.1
204244732010L-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.0

Citation

Dessen P

SLC6A12 (solute carrier family 6 member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73469/slc6a12