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    SLC6A2 solute carrier family 6 member 2 [ Homo sapiens (human) ]

    Gene ID: 6530, updated on 12-Mar-2017
    Official Symbol
    SLC6A2provided by HGNC
    Official Full Name
    solute carrier family 6 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11048
    See related
    Ensembl:ENSG00000103546 MIM:163970; Vega:OTTHUMG00000133208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NET; NAT1; NET1; SLC6A5
    Summary
    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]
    Orthologs
    Location:
    16q12.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (55655604..55706192)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55689542..55740104)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene matrix metallopeptidase 2 Neighboring gene lysophosphatidylcholine acyltransferase 2 Neighboring gene calpain small subunit 2 Neighboring gene uncharacterized LOC105371280 Neighboring gene carboxylesterase 1 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    NOT dopamine:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monoamine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    norepinephrine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    norepinephrine:sodium symporter activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT dopamine uptake involved in synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    monoamine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    norepinephrine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sodium-dependent noradrenaline transporter
    Names
    neurotransmitter transporter
    norepinephrine transporter
    solute carrier family 6 (neurotransmitter transporter), member 2
    solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
    solute carrier family 6 member 5
    NP_001034.1
    NP_001165972.1
    NP_001165973.1
    NP_001165975.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016969.1 RefSeqGene

      Range
      6015..55563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001043.3NP_001034.1  sodium-dependent noradrenaline transporter isoform 2

      See identical proteins and their annotated locations for NP_001034.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 3' exon including the coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC136621, AK301811, AU132072, BC060831
      Consensus CDS
      CCDS10754.1
      UniProtKB/Swiss-Prot
      P23975
      UniProtKB/TrEMBL
      A0A024R6T9
      Related
      ENSP00000369237, OTTHUMP00000164270, ENST00000379906, OTTHUMT00000256922
      Conserved Domains (1) summary
      cd11512
      Location:56615
      SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
    2. NM_001172501.1NP_001165972.1  sodium-dependent noradrenaline transporter isoform 2

      See identical proteins and their annotated locations for NP_001165972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' exon including the coding region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC136621, AK312793, DA853047
      Consensus CDS
      CCDS10754.1
      UniProtKB/Swiss-Prot
      P23975
      UniProtKB/TrEMBL
      A0A024R6T9
      Related
      ENSP00000457473, OTTHUMP00000254847, ENST00000568943, OTTHUMT00000433271
      Conserved Domains (1) summary
      cd11512
      Location:56615
      SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
    3. NM_001172502.1NP_001165973.1  sodium-dependent noradrenaline transporter isoform 3

      See identical proteins and their annotated locations for NP_001165973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has alternate 5' and 3' sequences including the 5' and 3' coding regions, as compared to variant 1. The resulting isoform (3) is shorter and has different N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AC136621, AK301811, BC039309
      Consensus CDS
      CCDS58463.1
      UniProtKB/Swiss-Prot
      P23975
      Related
      ENSP00000457375, OTTHUMP00000254853, ENST00000567238, OTTHUMT00000433277
      Conserved Domains (1) summary
      cl00456
      Location:27510
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    4. NM_001172504.1NP_001165975.1  sodium-dependent noradrenaline transporter isoform 1

      See identical proteins and their annotated locations for NP_001165975.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC136621
      Consensus CDS
      CCDS54011.1
      UniProtKB/Swiss-Prot
      P23975
      Related
      ENSP00000219833, ENST00000219833
      Conserved Domains (1) summary
      cd11512
      Location:56612
      SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      55655604..55706192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523295.1XP_011521597.1  sodium-dependent noradrenaline transporter isoform X1

      See identical proteins and their annotated locations for XP_011521597.1

      UniProtKB/Swiss-Prot
      P23975
      Conserved Domains (1) summary
      cd11512
      Location:56612
      SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
    2. XM_011523296.1XP_011521598.1  sodium-dependent noradrenaline transporter isoform X2

      Conserved Domains (1) summary
      cl00456
      Location:56567
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    3. XM_011523297.2XP_011521599.1  sodium-dependent noradrenaline transporter isoform X3

      See identical proteins and their annotated locations for XP_011521599.1

      UniProtKB/TrEMBL
      H3BRE9
      Related
      ENSP00000456210, OTTHUMP00000254852, ENST00000566163, OTTHUMT00000433276
      Conserved Domains (1) summary
      cl00456
      Location:56570
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    4. XM_011523298.1XP_011521600.1  sodium-dependent noradrenaline transporter isoform X4

      Conserved Domains (1) summary
      cl00456
      Location:56382
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    5. XM_006721263.2XP_006721326.1  sodium-dependent noradrenaline transporter isoform X1

      See identical proteins and their annotated locations for XP_006721326.1

      UniProtKB/Swiss-Prot
      P23975
      Conserved Domains (1) summary
      cd11512
      Location:56612
      SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain
    6. XM_011523300.2XP_011521602.1  sodium-dependent noradrenaline transporter isoform X5

      See identical proteins and their annotated locations for XP_011521602.1

      Conserved Domains (1) summary
      cl00456
      Location:1374
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    7. XM_011523299.2XP_011521601.1  sodium-dependent noradrenaline transporter isoform X5

      See identical proteins and their annotated locations for XP_011521601.1

      Conserved Domains (1) summary
      cl00456
      Location:1374
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    RNA

    1. XR_933403.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      57096804..57147472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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