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FLASH GENE
Symbol SLC6A2 contributors: mct - updated : 14-09-2011
HGNC name solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
HGNC id 11048
Location 16q12.2      Physical location : 55.689.541 - 55.740.103
Synonym name norepinephrine transporter
Synonym symbol(s) NET, NAT1, NET1, SLC6A5
EC.number 2.3.1.5
DNA
TYPE functioning gene
STRUCTURE 50.56 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • functional polymorphism -3081(T) significantly decreases promoter function compared with the A allele( creating a new E2-box consensus motif interacting with transcriptional repressors SNAI2, SCRT1, SCRT2 in a sequence- specific manner)
  • downstream of the C-terminal exon 14 of the human noradrenaline transporter (hNAT) gene reveals 5 consensus polyadenylation signals, several adenylate/uridylate-rich elements (AREs) and a new C-terminal exon, designated as exon 15 ( )
    • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3837 - 617 - 1998 9655936
    14 - 3551 - 617 - 1998 9655936
    14 - 2858 - 628 - 1998 9655936
    - - 3157 - 512 - 1998 9655936
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane segments (12TM)
  • N- and C-terminal ends facing the cytoplasmic side
    • HOMOLOGY
    Homologene
    FAMILY
  • sodium neurotransmitter symporter (SNF) family
  • Na+- and Cl--dependent neurotransmitter transporter family SLC6
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • expressed on the plasma membranes of noradrenergic neurons
  • is also localized in raft-rich membrane domains, and this localization is dynamically regulated by kinases
    • basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter
  • terminating the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals
  • mediating reuptake of norepinephrine released from neurons, and, as such, important regulator of noradrenergic neurotransmission
  • regulates both neurotransmission and homeostasis of norepinephrine in the nervous system
  • MAOA, SLC6A2, SLC6A3 may play important roles in regulating maternal monoamine neurotransmitters transferred across the placenta to the fetus
  • important in terminating neurotransmission
  • SLC6A3, SLC6A2, SLC6A4 facilitate the homeostatic balance of neurotransmitters in the synaptic cleft and thus, play a fundamental role in regulating neuronal activity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component TACR1 forms physical complexes with SLC6A2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PRKCABP
  • MAOA in anorexia nervosa
  • interacting with SMARCA2 and MECP2 (increased SLC6A2 gene expression in response to membrane depolarization was strongly correlated with the dissociation of MECP2 and SMARCA2 complex on the unmethylated gene)
  • TACR1 mediates down-regulation of SLC6A2 via protein kinase C (PKC)
    • cell & other
  • target of psychotropic substances, such as tricyclic antidepressants and the drug of abuse, cocaine
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to orthostatic intolerance
  • anorexia nervosa
  • to attention-deficit hyperactivity disorder (ADHD)
    • Variant & Polymorphism other
  • A457P associated with orthostatic intolerance
  • -3081(A/T) polymorphism associated to attention-deficit hyperactivity disorder (ADHD)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of SLc6a2 function during embryonic development in the mouse deregulates signaling pathways that are critically involved in neural crest formation and noradrenergic cell differentiation