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

Gene ID: 6530, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:11048
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]
Annotation information
Note: NET is an alias on both SLC6A2 (Gene ID: 6530, "norepinephrine transporter") and ELK3 (Gene ID: 2004). [01 Jun 2018]
Expression
Biased expression in adrenal (RPKM 4.7), placenta (RPKM 2.3) and 3 other tissues See more
Orthologs
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Genomic context

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See SLC6A2 in Genome Data Viewer
Location:
16q12.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (55655988..55706192)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61454123..61504416)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55689900..55740104)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:55536405-55536906 Neighboring gene matrix metallopeptidase 2 Neighboring gene lysophosphatidylcholine acyltransferase 2 Neighboring gene calpain small subunit 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:55633008-55633567 Neighboring gene Sharpr-MPRA regulatory region 3138 Neighboring gene uncharacterized LOC124903693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:55690152-55690687 Neighboring gene uncharacterized LOC105371280 Neighboring gene carboxylesterase 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups. Huang SY, et al. Drug Alcohol Depend, 2008 Jan 1. PMID 17630229
  2. Hormonal influences on cardiovascular norepinephrine transporter responses in healthy women. Moldovanova I, et al. Hypertension, 2008 Apr. PMID 18259012
  3. Norepinephrine transporter inhibition alters the hemodynamic response to hypergravitation. Strempel S, et al. J Appl Physiol (1985), 2008 Mar. PMID 18187607
  4. In vivo imaging and quantitation of adoptively transferred human antigen-specific T cells transduced to express a human norepinephrine transporter gene. Doubrovin MM, et al. Cancer Res, 2007 Dec 15. PMID 18089827
  5. Pharmacogenetic study of atypical antipsychotic drug response: involvement of the norepinephrine transporter gene. Méary A, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Jun 5. PMID 18085566

See all (221) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Substrate binding and inhibition mechanism of norepinephrine transporter.
    Title: Substrate binding and inhibition mechanism of norepinephrine transporter.
  2. Transport and inhibition mechanisms of the human noradrenaline transporter.
    Title: Transport and inhibition mechanisms of the human noradrenaline transporter.
  3. Molecular basis of human noradrenaline transporter reuptake and inhibition.
    Title: Molecular basis of human noradrenaline transporter reuptake and inhibition.
  4. Dimerization and antidepressant recognition at noradrenaline transporter.
    Title: Dimerization and antidepressant recognition at noradrenaline transporter.
  5. Relationship between SLC6A2 gene polymorphisms and brain volume in Han Chinese adults who lost their sole child.
    Title: Relationship between SLC6A2 gene polymorphisms and brain volume in Han Chinese adults who lost their sole child.
  6. Genotype-by-diagnosis interaction influences self-control in human cocaine addiction.
    Title: Genotype-by-diagnosis interaction influences self-control in human cocaine addiction.
  7. The norepinephrine transporter gene modulates intrinsic brain activity, visual memory, and visual attention in children with attention-deficit/hyperactivity disorder.
    Title: The norepinephrine transporter gene modulates intrinsic brain activity, visual memory, and visual attention in children with attention-deficit/hyperactivity disorder.
  8. Association between genetic variants of the norepinephrine transporter gene (SLC6A2) and bipolar I disorder.
    Title: Association between genetic variants of the norepinephrine transporter gene (SLC6A2) and bipolar I disorder.
  9. Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study.
    Title: Delayed retinal vein recovery responses indicate both non-adaptation to stress as well as increased risk for stroke: the SABPA study.
  10. Label-free high-throughput screening assay for the identification of norepinephrine transporter (NET/SLC6A2) inhibitors.
    Title: Label-free high-throughput screening assay for the identification of norepinephrine transporter (NET/SLC6A2) inhibitors.
Submit: New GeneRIF Correction See all GeneRIFs (161)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurocirculatory asthenia
MedGen: C1535893 OMIM: 604715 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables alpha-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
enables beta-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
enables dopamine:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dopamine:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monoamine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables monoamine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables neurotransmitter transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables neurotransmitter:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
  
enables norepinephrine:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables norepinephrine:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables norepinephrine:sodium symporter activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in dopamine uptake involved in synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within monoamine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuron cellular homeostasis TAS
Traceable Author Statement
more info
 PubMed 
involved_in neurotransmitter transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in norepinephrine transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in norepinephrine uptake ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to pain IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in neuronal cell body membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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
    5359..55563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001043.3 → NP_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
    B2R707, B4DX48, P23975, Q96KH8
    UniProtKB/TrEMBL
    H3BML6
    Related
    ENSP00000369237.2, ENST00000379906.6
    Conserved Domains (1) summary
    cd11512
    Location:56 → 615
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

  2. NM_001172501.3 → NP_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
    B2R707, B4DX48, P23975, Q96KH8
    UniProtKB/TrEMBL
    H3BML6
    Related
    ENSP00000457473.1, ENST00000568943.6
    Conserved Domains (1) summary
    cd11512
    Location:56 → 615
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

  3. NM_001172502.1 → NP_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
    ENSP00000457375.1, ENST00000567238.1
    Conserved Domains (1) summary
    cl00456
    Location:27 → 510
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  4. NM_001172504.1 → NP_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/TrEMBL
    H3BML6
    Related
    ENSP00000219833.8, ENST00000219833.13
    Conserved Domains (1) summary
    cd11512
    Location:56 → 612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    55655988..55706192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523295.3 → XP_011521597.1  sodium-dependent noradrenaline transporter isoform X1

    See identical proteins and their annotated locations for XP_011521597.1

    UniProtKB/TrEMBL
    H3BML6
    Conserved Domains (1) summary
    cd11512
    Location:56 → 612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

  2. XM_006721263.2 → XP_006721326.1  sodium-dependent noradrenaline transporter isoform X1

    See identical proteins and their annotated locations for XP_006721326.1

    UniProtKB/TrEMBL
    H3BML6
    Conserved Domains (1) summary
    cd11512
    Location:56 → 612
    SLC6sbd_NET; Na(+)- and Cl(-)-dependent norepinephrine transporter NET; solute-binding domain

  3. XM_047434511.1 → XP_047290467.1  sodium-dependent noradrenaline transporter isoform X3

    UniProtKB/TrEMBL
    H3BRE9, I3L368
    Related
    ENSP00000460214.2, ENST00000574918.2

  4. XM_047434510.1 → XP_047290466.1  sodium-dependent noradrenaline transporter isoform X2

  5. XM_047434512.1 → XP_047290468.1  sodium-dependent noradrenaline transporter isoform X4

  6. XM_047434513.1 → XP_047290469.1  sodium-dependent noradrenaline transporter isoform X5

    Related
    ENSP00000508367.1, ENST00000682050.1

  7. XM_011523300.3 → XP_011521602.1  sodium-dependent noradrenaline transporter isoform X6

    See identical proteins and their annotated locations for XP_011521602.1

    UniProtKB/TrEMBL
    Q9BW84
    Conserved Domains (1) summary
    cl00456
    Location:1 → 374
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  8. XM_011523299.3 → XP_011521601.1  sodium-dependent noradrenaline transporter isoform X6

    See identical proteins and their annotated locations for XP_011521601.1

    UniProtKB/TrEMBL
    Q9BW84
    Conserved Domains (1) summary
    cl00456
    Location:1 → 374
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    61454123..61504416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313748.1 → XP_054169723.1  sodium-dependent noradrenaline transporter isoform X1

  2. XM_054313752.1 → XP_054169727.1  sodium-dependent noradrenaline transporter isoform X5

  3. XM_054313751.1 → XP_054169726.1  sodium-dependent noradrenaline transporter isoform X4

  4. XM_054313747.1 → XP_054169722.1  sodium-dependent noradrenaline transporter isoform X1

  5. XM_054313749.1 → XP_054169724.1  sodium-dependent noradrenaline transporter isoform X2

  6. XM_054313750.1 → XP_054169725.1  sodium-dependent noradrenaline transporter isoform X3

    UniProtKB/TrEMBL
    H3BRE9, I3L368

  7. XM_054313754.1 → XP_054169729.1  sodium-dependent noradrenaline transporter isoform X6

  8. XM_054313753.1 → XP_054169728.1  sodium-dependent noradrenaline transporter isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23975.1 GenPept UniProtKB/Swiss-Prot:P23975

Gene LinkOut

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