SLC6A2 (solute carrier family 6 member 2)

2007-02-01  

Identity

HGNC
SLC6A2
LOCATION
16q12.2
LOCUSID
6530
ALIAS
NAT1,NET,NET1,SLC6A5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6530
MIM: 163970
HGNC: 11048
Ensembl: ENSG00000103546

Variants:

dbSNP: 6530
ClinVar: 6530
TCGA: ENSG00000103546
COSMIC: SLC6A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103546ENST00000219833P23975
ENSG00000103546ENST00000379906P23975
ENSG00000103546ENST00000379906A0A024R6T9
ENSG00000103546ENST00000414754H3BM11
ENSG00000103546ENST00000561820H3BML6
ENSG00000103546ENST00000566163H3BRE9
ENSG00000103546ENST00000567238P23975
ENSG00000103546ENST00000568529H3BRS0
ENSG00000103546ENST00000568655H3BMY5
ENSG00000103546ENST00000568943P23975
ENSG00000103546ENST00000568943A0A024R6T9
ENSG00000103546ENST00000574918I3L368

Expression (GTEx)

0
1
2
3
4
5
6
7
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

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
PA1318870083,4-methylenedioxymethamphetamineChemicalClinicalAnnotation, VariantAnnotationambiguous
PA134688071atomoxetineChemicalClinicalAnnotationassociatedPD19387424, 23266789
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD19387424, 23083021, 23266789, 23609393, 29230023, 29374517
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD28068779
PA449233desipramineChemicalPathwayassociated
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD23083021, 23609393, 29230023, 29374517
PA451866venlafaxineChemicalClinicalAnnotationassociatedPD28068779

References

Pubmed IDYearTitleCitations
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
188215652008Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.133
225443112012Adolescent impulsivity phenotypes characterized by distinct brain networks.123
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
203517142011Poor replication of candidate genes for major depressive disorder using genome-wide association data.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151382092004Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders.58
218857392011Structure-based discovery of prescription drugs that interact with the norepinephrine transporter, NET.54
157172912005Support for association between ADHD and two candidate genes: NET1 and DRD1.53
193653992009Genetic predictors of response to antidepressants in the GENDEP project.46

Citation

Dessen P

SLC6A2 (solute carrier family 6 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46297/slc6a2