SLC6A12 (solute carrier family 6 member 12)

2014-11-01  

Identity

HGNC
SLC6A12
LOCATION
12p13.33
LOCUSID
6539
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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD20597903
PA448497aspirinChemicalClinicalAnnotationassociatedPD20597903

References

Pubmed IDYearTitleCitations
321144382020Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview.0
321144382020Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview.0
311081102019Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function.13
311081102019Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function.13
266905182015Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy.2
266905182015Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy.2
248295062014Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress.1
248295062014Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress.1
224058212012Up-regulation of the betaine/GABA transporter BGT1 by JAK2.0
224058212012Up-regulation of the betaine/GABA transporter BGT1 by JAK2.0
213674622011Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.6
213674622011Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population.6
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
205979032010Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population.11
205979032010Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population.11

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-(solute-carrier-family-6-member-12)