Human Gene SLC6A2 (uc021tio.1) Description and Page Index
  Description: Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.
RefSeq Summary (NM_001172504): This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].
Transcript (Including UTRs)
   Position: hg19 chr16:55,690,556-55,740,104 Size: 49,549 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr16:55,690,607-55,739,184 Size: 48,578 Coding Exon Count: 14 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:55,690,556-55,740,104)mRNA (may differ from genome)Protein (628 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionLynxMGIOMIMPubMedReactome
Stanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC6A2
CDC HuGE Published Literature: SLC6A2
Positive Disease Associations: ADHD | attention-deficit hyperactivity disorder , amphetamine response , Anorexia Nervosa , attention deficit hyperactivity disorder , Blood Pressure Determination , Body Height , Coronary Artery Disease , gastrointestinal disorders , Glucose , hypertension , left ventricular fractional shortening , norepinephrine-transporter deficiency , orthostatic intolerance , personality disorders , response to antidepressants
Related Studies:
  1. ADHD | attention-deficit hyperactivity disorder
    Nicolas Ramoz , et al. Neuropsychopharmacology 2009 34(9):2135-42, A haplotype of the norepinephrine transporter (Net) gene Slc6a2 is associated with clinical response to atomoxetine in attention-deficit hyperactivity disorder (ADHD)., Neuropsychopharmacology 2009 34(9):2135-42. [PubMed 19387424]
  2. amphetamine response
    Dlugos, A. et al. 2007, Norepinephrine Transporter Gene Variation Modulates Acute Response to d-Amphetamine, Biol Psychiatry 2007. [PubMed 17239355]
    Polymorphisms in the SLC6A2 gene were associated with mood responses to D-amphetamine. If confirmed, this observation may contribute to a better understanding of interindividual variations in the clinical response to amphetamine and in the risk of becoming addicted to amphetamine.
  3. Anorexia Nervosa
    Urwin RE et al. 2002, Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region., Molecular psychiatry. 2002 ;7(6):652-7. [PubMed 12140790]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC6A2
Diseases sorted by gene-association score: orthostatic intolerance* (1711), syncope (37), oppositional defiant disorder (16), ocular hyperemia (15), generalized anxiety disorder (12), cocaine abuse (9), attention deficit-hyperactivity disorder (9), panic disorder (9), amphetamine abuse (9), anxiety disorder (8), corneal endothelial dystrophy, autosomal recessive (7), agoraphobia (6), hyperekplexia (5), mental depression (5), specific developmental disorder (4), pheochromocytoma (3), mood disorder (2), narcolepsy (2), central nervous system disease (1), schizophrenia (1), disease of mental health (1), hypertension, essential (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.07 RPKM in Testis
Total median expression: 6.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.8051-0.231 Picture PostScript Text
3' UTR -253.86920-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00209 - Sodium:neurotransmitter symporter family

ModBase Predicted Comparative 3D Structure on P23975-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
   FlyBaseWormBase 
   Protein SequenceProtein Sequence 
   AlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  AK312793 - Homo sapiens cDNA, FLJ93211, Homo sapiens solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2 (SLC6A2), mRNA.
M65105 - Human noradrenaline transporter mRNA, complete cds.
BC060831 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:30338878).
BC156903 - Synthetic construct Homo sapiens clone IMAGE:100062757, MGC:190603 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2) mRNA, encodes complete protein.
BC039309 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:5270717), with apparent retained intron.
JD348253 - Sequence 329277 from Patent EP1572962.
JD522923 - Sequence 503947 from Patent EP1572962.
AK301811 - Homo sapiens cDNA FLJ58297 complete cds, highly similar to Sodium-dependent noradrenaline transporter.
BC000563 - Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, mRNA (cDNA clone IMAGE:3162672), partial cds.
AK310410 - Homo sapiens cDNA, FLJ17452.
AB022846 - Homo sapiens mRNA for norepinephrine transporter isoform 1, partial cds.
AB022847 - Homo sapiens mRNA for norepinephrine transporter isoform 2, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P23975 (Reactome details) participates in the following event(s):

R-HSA-443997 SLC6A2 cotransports NAd, Na+ from extracellular region to cytosol
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425428 Amine compound SLC transporters
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: NAT1, NET1, NM_001172504, NP_001165975, P23975-2, SLC6A5
UCSC ID: uc021tio.1
RefSeq Accession: NM_001172504
Protein: P23975-2, splice isoform of P23975 CCDS: CCDS10754.1, CCDS54011.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001172504.1
exon count: 14CDS single in 3' UTR: no RNA size: 2858
ORF size: 1887CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3874.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.