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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC6A2 Gene

protein-coding   GIFtS: 66
GCID: GC16P055745

Solute Carrier Family 6 (Neurotransmitter Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter, noradrenalin),...)
(Previous symbols: NET1, NAT1, SLC6A5)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 21 2     NET2 3
NAT11 2 3 5     Neurotransmitter Transporter2
NET11 2 3 5     Sodium-Dependent Noradrenaline Transporter2
SLC6A51 2 3     Solute Carrier Family 6 Member 52
Norepinephrine Transporter1 2 3     Solute Carrier Family 6 Member 23
Solute Carrier Family 6 (Neurotransmitter Transporter, Noradrenalin),
Member 21 2
     

External Ids:    HGNC: 110481   Entrez Gene: 65302   Ensembl: ENSG000001035467   OMIM: 1639705   UniProtKB: P239753   

Export aliases for SLC6A2 gene to outside databases

Previous GC identifers: GC16M046129 GC16P055428 GC16P055469 GC16P054247 GC16P041576


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC6A2 Gene:
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)

GeneCards Summary for SLC6A2 Gene: 
SLC6A2 (solute carrier family 6 (neurotransmitter transporter), member 2) is a protein-coding gene. Diseases associated with SLC6A2 include orthostatic intolerance, and syncope, and among its related super-pathways are Transmembrane transport of small molecules and Na+/Cl- dependent neurotransmitter transporters. GO annotations related to this gene include norepinephrine:sodium symporter activity and monoamine transmembrane transporter activity. An important paralog of this gene is SLC6A6.

UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975
Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake
into presynaptic terminals

summary for SLC6A2 Gene:
Adrenergic transporters (NET) are sodium- and chloride-dependent members of the solute carrier family 6
(SLC6) widely distributed throughout the brain within noradrenergic neuronal plasma membranes. They are
responsible for the re-uptake of adrenalin, noradrenalin and (to a lesser extent) dopamine from the synaptic
cleft back into vesicles for storage until later use, resulting in the termination of neurotransmitter
action. Adrenergic transporters contain the following structural motifs: 12-TM domains, extracellular loops,
cytoplasmic C- and N-termini and putative phosphorylation sites. A role for NETs has been proposed in
attention deficit disorder, substance abuse, neurodegenerative disorders and clinical depression.

Gene Wiki entry for SLC6A2 (Norepinephrine transporter) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A2 gene promoter:
         C/EBPbeta   AP-1   POU3F1   MIF-1   Nkx2-5   GATA-1   GATA-2   Arnt   COMP1   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.2   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q12.2

SLC6A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P055745:  view genomic region     (about GC identifiers)

Start:
55,689,516 bp from pter      End:
55,740,104 bp from pter
Size:
50,589 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975 (See protein sequence)
Recommended Name: Sodium-dependent noradrenaline transporter  
Size: 617 amino acids; 69332 Da
Subunit: Interacts with PRKCABP
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: This protein is the target of psychomotor stimulants such as amphetamines or cocaine
Secondary accessions: B2R707 Q96KH8
Alternative splicing: 2 isoforms:  P23975-1   P23975-2   

Explore the universe of human proteins at neXtProt for SLC6A2: NX_P23975

Explore proteomics data for SLC6A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23975

  • SLC6A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001034.1  NP_001165972.1  NP_001165973.1  NP_001165975.1  

    ENSEMBL proteins: 
     ENSP00000457473   ENSP00000456377   ENSP00000394956   ENSP00000454603   ENSP00000369237  
     ENSP00000454439   ENSP00000456210   ENSP00000457375   ENSP00000460214   ENSP00000219833  
    Reactome Protein details: P23975
    Human Recombinant Protein Products for SLC6A2: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane TAS2008212
    GO:0016021integral to membrane ----

    SLC6A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: NET 
    Monoamine transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002435 Na/ntran_symport_noradrenaline

    Graphical View of Domain Structure for InterPro Entry P23975

    ProtoNet protein and cluster: P23975

    1 Blocks protein domain: IPB002435 Noradrenaline neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily


    SLC6A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC6A2_HUMAN, P23975
    Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake
    into presynaptic terminals

         Genatlas biochemistry entry for SLC6A2:
    solute carrier family 6,member 2,neurotransmitter transporter,noradrenalin/morepinephrine

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity ----
    GO:0005334norepinephrine:sodium symporter activity TAS2008212
    GO:0005515protein binding IPI11343649
    GO:0008504monoamine transmembrane transporter activity IDA16024787
         
    SLC6A2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SLC6A2:
     Cell division defect  Decreased viability with cispl  Increased G2M DNA content  Increased number of mitotic ce 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc6a2):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  nervous system 

    SLC6A2 for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSLC6A2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC6A2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    3Citalopram Pathway, Pharmacokinetics
    Venlafaxine Pathway, Pharmacokinetics0.67
    4Adrenoceptors
    Sympathetic Nerve Pathway (Neuroeffector Junction)0.33
    5Monoamine Transport
    Monoamine Transport

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC6A2
        Monoamine Transport

    5        Reactome Pathways for SLC6A2
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Na+/Cl- dependent neurotransmitter transporters
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Amine compound SLC transporters

    2 PharmGKB Pathways for SLC6A2
        Sympathetic Nerve Pathway (Neuroeffector Junction)
    Venlafaxine Pathway, Pharmacokinetics


    SLC6A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SLC6A2 (P239752, 3 ENSP000003692374) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PICK1Q9NRD52, 3, ENSP000003494654MINT-73297 MINT-73299 MINT-73295 I2D: score=2 STRING: ENSP00000349465
    PPP2R1AP301533, ENSP000003248044I2D: score=1 STRING: ENSP00000324804
    STX1AQ166233, ENSP000002228124I2D: score=2 STRING: ENSP00000222812
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2008212
    GO:0006836neurotransmitter transport ----
    GO:0007268synaptic transmission TAS2008212
    GO:0015844monoamine transport IDA16024787
    GO:0048265response to pain IEA--

    SLC6A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC6A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SLC6A2

    Compounds for SLC6A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Tomoxetine hydrochloride Potent, selective noradrenalin re-uptake inhibitor [82248-59-7]
    Desipramine hydrochlorideSelective inhibitor of noradrenalin transporters[58-28-6]
    Nisoxetine hydrochlorideNoradrenalin re-uptake inhibitor[57754-86-6]
    Talopram hydrochloride Potent, selective inhibitor of noradrenalin transporters [7013-41-4]
    Reboxetine mesylate Potent, selective noradrenalin uptake inhibitor; orally active [98769-84-7]

    5 HMDB Compounds for SLC6A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bupropion(+-)-Bupropion (see all 7)34841-39-9--
    ImipramineAntideprin (see all 27)50-49-7--
    Norepinephrine(-)-(R)-Norepinephrine (see all 32)51-41-2--
    SodiumSodium (see all 2)7440-23-5--
    VenlafaxineEfectin (see all 6)93413-69-5--

    10/54 DrugBank Compounds for SLC6A2 (see all 54)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DuloxetineDuloxetine HCl (see all 2)136434-34-9targetinhibitor15892657 15316838 12481192 16139169 16650830 11752352 17335951 9669506 18408530 15184278 2784100 20432324 14744476 19480470 16199241
    SibutramineSibutramina [Spanish] (see all 2)106650-56-0targetinhibitor10929704 19475780 16678551 12417543 11152984 15382615 15685250 11752352 18671470 15944869 17284621
    AtomoxetineTomoxetina [Spanish] (see all 4)82248-59-7target--12523874 18033153 12456942 14709944 12862507 9537821 16142049 15801334 19445548 12547466
    Dexmethylphenidate-- 40431-64-9targetinhibitor18698001 17218796 15322419 9181638 18480678 17611273 11160413 9537821 11862378 16246598
    DesipramineDemethylimipramine (see all 11)50-47-5targetinhibitor10424850 15814154 12137927 11752352 9537821 15002740 12837768
    Methylphenidated-methylphenidate HCl (see all 10)113-45-1targetinhibitor18698001 17218796 15322419 17611273 11160413 9537821 16246598
    Venlafaxine-- 93413-69-5targetinhibitor19238127 19728573 10884561 15910402 16893531 9669506 14744476
    DesvenlafaxineO-desmethylvenlafaxine (see all 2)93413-62-8targetinhibitor17673606 19919295 16675639 19086875 20944767 19698900
    Mazindol-- 22232-71-9targetinhibitor15300361 16954558 2120386 9537821 12885787 10966747
    Nortriptyline-- 72-69-5targetinhibitor11502876 8863842 17018806 11092898 9537821 14744476

    6 IUPHAR Ligands for SLC6A2 (NET)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [3H]mazindol
    NoneNone9.3--
    mazindol
    InhibitorInhibition8.9--
    nisoxetine
    InhibitorInhibition8.4--
    [3H]nisoxetine
    NoneNone8.4--
    nomifensine
    InhibitorInhibition8.1--
    reboxetine
    InhibitorInhibition810812041

    10/101 Novoseek inferred chemical compound relationships for SLC6A2 gene (see all 101)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    norepinephrine 93.5 1314 18259012 (7), 8610762 (7), 15814154 (6), 16427744 (6) (see all 99)
    nisoxetine 89.8 16 8848002 (2), 10447954 (2), 8218295 (1), 16361258 (1) (see all 11)
    lortalamine 87.2 7 15914010 (2), 15998285 (1), 17073682 (1)
    reboxetine 85.5 24 15998285 (2), 17983754 (2), 12414883 (1), 15170818 (1) (see all 19)
    desipramine 84.6 66 15814154 (5), 17850785 (3), 10424850 (3), 8374761 (2) (see all 36)
    atomoxetine 82.6 29 16896954 (4), 19387424 (3), 17515448 (2), 17707807 (2) (see all 17)
    dopamine 82.2 299 8667208 (4), 16336224 (4), 9092590 (2), 12716261 (2) (see all 99)
    m-tyramine 78.5 2 9681456 (1), 12814837 (1)
    mibg 78.4 41 17979223 (3), 10455418 (1), 16787344 (1), 17387017 (1) (see all 24)
    6-fluorodopamine 76.4 4 11107129 (2), 10899926 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A2 / SC6A2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC6A2 gene (4 alternative transcripts): 
    NM_001043.3  NM_001172501.1  NM_001172502.1  NM_001172504.1  

    Unigene Cluster for SLC6A2:

    Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
    Hs.78036  [show with all ESTs]
    Unigene Representative Sequence: NM_001172501
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568943 ENST00000568529 ENST00000414754 ENST00000568655 ENST00000379906(uc002eif.3 uc002eig.3)
    ENST00000561820 ENST00000566163 ENST00000567238(uc002eii.3 uc002eij.3 uc021tip.1)
    ENST00000574918 ENST00000219833(uc021tio.1)

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    Additional mRNA sequence: 

    AB022846.1 AB022847.1 AK301811.1 AK310410.1 AK312793.1 BC000563.2 BC039309.1 BC060831.1 
    M65105.1 

    12 DOTS entries:

    DT.100748456  DT.111177  DT.40281724  DT.95281015  DT.91706962  DT.100711624  DT.91745002  DT.100741072 
    DT.120668967  DT.100705791  DT.99968829  DT.91745171 

    24/74 AceView cDNA sequences (see all 74):

    CB989013 R21410 AA610011 NM_001043 AI399889 BX479214 M65105 BC060831 
    BC000563 CB989377 BX396704 BC039309 BF111741 BF445572 AL528964 BV199237 
    BQ026494 BQ881867 AI765218 CB994468 AU132072 BF448911 BV199236 BQ716475 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A2    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
    SP1:                                                                                                                  
    SP2:        -     -                                                                                                   
    SP3:              -                                                                                                   
    SP4:                                                                                                  -               


    ECgene alternative splicing isoforms for SLC6A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC6A2 expression in normal human tissues (normalized intensities)      SLC6A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC6A2 Expression
    About this image


    SLC6A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             Olfactory Bulb   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Neuron (Nervous System)
             nerve   

    See SLC6A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A2

    SOURCE GeneReport for Unigene cluster: Hs.78036
        SABiosciences Custom PCR Arrays for SLC6A2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a21 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 86.6(n)1
    94.33(a)1
      8 (44.99 cM)5
    205381  NM_009209.31  NP_033235.31 
     929610475 
    chicken
    (Gallus gallus)
    Aves SLC6A21 solute carrier family 6 (neurotransmitter transporter, more 76.11(n)
    85.67(a)
      395458  NM_204716.1  NP_990047.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A26
    Transporter
    75(a)
    1 ↔ 1
    LGc(2383537-2465626)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5657761 sodium-dependent noradrenaline transporter-like 69.78(n)
    73.77(a)
      565776  XM_689046.4  XP_694138.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta DAT1 , 3 dopamine transporter3
    Dopamine transporter1
    55(a)
    (best of 10)3
    58.92(n)1
    59.1(a)1
      368491  NM_079039.31  NP_523763.21 
    worm
    (Caenorhabditis elegans)
    Secernentea mod-53
    dat-11
    Protein DAT-11 46(a)
    (best of 6)3
    53.95(n)1
    52.37(a)1
      I(3035239-3047795)3
    1763041  NM_066642.41  NP_499043.11 


    ENSEMBL Gene Tree for SLC6A2 (if available)
    TreeFam Gene Tree for SLC6A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A2 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A32  SLC6A12  
    SLC6A42  SLC6A132  SLC6A72  SLC6A92  
    18/21 SIMAP similar genes for SLC6A2 using alignment to 9 protein entries:     SC6A2_HUMAN (see all proteins) (see all similar genes):
    SLC6A4    SLC6A12    SLC6A13    SLC6A3    5HTT    SLC6A5
    SLC6A1    SLC6A6    SLC6A15    SLC6A9    SLC6A7    DAT1
    SLC6A8    SLC6A14    SLC6A11    SLC6A19    DKFZp761I0921    SLC6A18

    SLC6A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1198 SNPs in SLC6A2 are shown (see all 1198)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0100224
    Orthostatic intolerance (OI)4--see VAR_0100222 A P mis40--------
    rs1219181261,2
    Cpathogenic156745761(+) TTCTCC/G/TCCCTG 8 P A mis11NA 4552
    rs358719531,2
    C--41614733(+) AAAAA-/A/AA  
            
    TCTGA
    4 -- int11NA 2
    rs114075771,2
    C--55691028(+) ACGGGA/-AAAAA 3 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs112997181,2
    C--55697997(+) ACAGG-/GTTCAG 3 -- int10--------
    rs671441221,2
    C--55721103(+) ATTTT-/TTAATCTTAACTTTACCTTGAAGTCAA/TTAATCTTAACTTTACCTTGAAGTCAATTTCACATCCAGT
    AGTCGAATTACATTTCAATAGAAATACAAACTGTGGGTTTCAAAACTGTAATTAAATCAGCTTAATGGGT
    CATCA
    8 -- int1 cds11NA 2
    rs114730831,2
    C--55727280(+) AAAAA-/A/AA  
            
    TCTGA
    4 -- int1 trp31CSA 2
    rs797426371,2
    C--55727289(+) AAAAAC/AAAATC 4 -- int11Minor allele frequency- A:0.50WA 2
    rs354345991,2
    C--55731636(+) AGAAC-/AGGACA 4 -- int12Minor allele frequency- A:0.25NA 4
    rs2017743811,2
    C--55736659(+) AAAAA-/ACTAAA 4 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for SLC6A2 (55689516 - 55740104 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SLC6A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1813CNV Insertion18451855
    nsv103423CNV Insertion16902084
    esv1621115CNV Insertion17803354
    nsv517827CNV Loss19592680
    nsv906673CNV Loss21882294
    esv8787CNV Gain19470904
    esv9043CNV Gain19470904
    nsv906674CNV Gain21882294
    nsv819933CNV Gain19587683
    dgv892e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): SLC6A2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 163970   
    OMIM disorders: 604715  
    UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975
  • Orthostatic intolerance (OI) [MIM:604715]: Syndrome characterized by lightheadedness, fatigue, altered
    mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is
    abnormally high. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/46 diseases for SLC6A2 (see all 46):    About MalaCards
    orthostatic intolerance    syncope    novelty seeking personality    substance abuse
    mitral valve prolapse    agoraphobia    generalized anxiety disorder    multiple endocrine neoplasia type 2a
    anxiety disorder    attention deficit hyperactivity disorder    heroin dependence    anorexia nervosa
    phaeochromocytoma    cocaine abuse    panic disorder    obsessive-compulsive disorder
    blastoma    multiple endocrine neoplasia    major depressive disorder    alcohol abuse

    4 diseases from the University of Copenhagen DISEASES database for SLC6A2:
    Attention deficit hyperactivity disorder     Panic disorder     Neuroblastoma     Schizophrenia

    SLC6A2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/37 Novoseek inferred disease relationships for SLC6A2 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    attention-deficit hyperactivity disorder 68.5 26 19387424 (2), 16969268 (2), 12716261 (1), 16896954 (1) (see all 15)
    mitral valve prolapse 52.6 14 12391111 (2), 11804991 (2), 12805287 (2), 14726430 (1) (see all 9)
    major depression 51 51 10512149 (4), 11927173 (4), 15118352 (4), 17353941 (4) (see all 15)
    autonomic disorder 50.7 1 12805287 (1)
    pheochromocytoma 46.4 15 17102094 (3), 16047163 (2), 19088695 (2), 12574193 (1) (see all 7)
    neuroendocrine tumors 40.4 5 15154969 (1), 17979223 (1), 18196892 (1)
    panic disorder 40 11 15722184 (4), 16785272 (1), 12401556 (1), 18629431 (1)
    mood disorders 33.4 5 11927173 (1), 11606618 (1), 17654409 (1)
    generalized anxiety disorder 29.1 1 19337457 (1)
    tachycardia 23.7 6 19808400 (2), 19698724 (1), 11458707 (1), 15946904 (1)

    Genetic Association Database (GAD): SLC6A2
    Human Genome Epidemiology (HuGE) Navigator: SLC6A2 (90 documents)

    Export disorders for SLC6A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC6A2 gene, integrated from 9 sources (see all 643):
    (articles sorted by number of sources associating them with SLC6A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes. (PubMed id 17124432)1, 4, 7, 9 Ksiazek P....Buraczynska M. (2006)
    2. Norepinephrine transporter gene variation modulates acute response to D-amphetamine. (PubMed id 17239355)1, 4, 7, 9 Dlugos A....de Wit H. (2007)
    3. Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. (PubMed id 10684912)1, 2, 4, 9 Shannon J.R.... Robertson D. (2000)
    4. Further evidence of association between amphetamine r esponse and SLC6A2 gene variants. (PubMed id 19727679)1, 4, 7 Dlugos A.M....de Wit H. (2009)
    5. Association of norepinephrine transporter gene with methylphenidate response. (PubMed id 15322419)1, 4, 7 Yang L....Faraone S.V. (2004)
    6. Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter. (PubMed id 2008212)1, 2, 3 Pacholczyk T.... Amara S.G. (1991)
    7. Chronic depolarization stimulates norepinephrine transporter expression via catecholamines. (PubMed id 16573647)1, 7, 9 Habecker B.A....Woodward W.R. (2006)
    8. A Haplotype of the Norepinephrine Transporter (Net) Gene Slc6a2 is Associated with Clinical Response to Atomoxetine in Attention-Deficit Hyperactivity Disorder (ADHD). (PubMed id 19387424)1, 4, 9 Ramoz N....Gorwood P. (2009)
    9. Association of major depression with rare functional variants in norepinephrine transporter and serotonin(1A) receptor genes. (PubMed id 19105200)1, 4, 9 Haenisch B....BAPnisch H. (2008)
    10. Novel and functional norepinephrine transporter prote in variants identified in attention-deficit hyperactivity disorder. (PubMed id 19698724)1, 4, 9 Hahn M.K....Krueger J.J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6530 HGNC: 11048 AceView: SLC6A2 Ensembl:ENSG00000103546 euGenes: HUgn6530
    ECgene: SLC6A2 H-InvDB: SLC6A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC6A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC6A2 gene:
    Search GeneIP for patents involving SLC6A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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