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Aliases for SLC6A2 Gene

Aliases for SLC6A2 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 2 2 3
  • Norepinephrine Transporter 2 3 4
  • NAT1 3 4 6
  • NET1 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Noradrenalin), Member 2 2 3
  • SLC6A5 3 4
  • NET 3 4
  • Sodium-Dependent Noradrenaline Transporter 3
  • Solute Carrier Family 6 Member 5 3
  • Solute Carrier Family 6 Member 2 4
  • Neurotransmitter Transporter 3

External Ids for SLC6A2 Gene

Previous Symbols for SLC6A2 Gene

  • NET1
  • NAT1
  • SLC6A5

Summaries for SLC6A2 Gene

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 generalized anxiety disorder. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include monoamine transmembrane transporter activity and norepinephrine:sodium symporter activity. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A2 Gene

  • Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals

Tocris 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A2 Gene

Genomics for SLC6A2 Gene

Genomic Location for SLC6A2 Gene

Start:
55,655,604 bp from pter
End:
55,706,192 bp from pter
Size:
50,589 bases
Orientation:
Plus strand

Genomic View for SLC6A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A2 Gene

Regulatory Elements for SLC6A2 Gene

Proteins for SLC6A2 Gene

  • Protein details for SLC6A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23975-SC6A2_HUMAN
    Recommended name:
    Sodium-dependent noradrenaline transporter
    Protein Accession:
    P23975
    Secondary Accessions:
    • B2R707
    • B4DX48
    • Q96KH8

    Protein attributes for SLC6A2 Gene

    Size:
    617 amino acids
    Molecular mass:
    69332 Da
    Quaternary structure:
    • Interacts with PRKCABP.
    Miscellaneous:
    • This protein is the target of psychomotor stimulants such as amphetamines or cocaine

    Alternative splice isoforms for SLC6A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A2 Gene

Proteomics data for SLC6A2 Gene at MOPED

Post-translational modifications for SLC6A2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn184, Asn192, and Asn198

No data available for DME Specific Peptides for SLC6A2 Gene

Domains for SLC6A2 Gene

Gene Families for SLC6A2 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Suggested Antigen Peptide Sequences for SLC6A2 Gene

Graphical View of Domain Structure for InterPro Entry

P23975

UniProtKB/Swiss-Prot:

SC6A2_HUMAN
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily.:
    • P23975
genes like me logo Genes that share domains with SLC6A2: view

Function for SLC6A2 Gene

Molecular function for SLC6A2 Gene

GENATLAS Biochemistry: solute carrier family 6,member 2,neurotransmitter transporter,noradrenalin/morepinephrine
UniProtKB/Swiss-Prot Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals

Gene Ontology (GO) - Molecular Function for SLC6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity --
GO:0005333 norepinephrine transmembrane transporter activity --
GO:0005334 norepinephrine:sodium symporter activity TAS 2008212
GO:0005515 protein binding IPI 11343649
GO:0008504 monoamine transmembrane transporter activity IDA 16024787
genes like me logo Genes that share ontologies with SLC6A2: view
genes like me logo Genes that share phenotypes with SLC6A2: view

miRNA for SLC6A2 Gene

miRTarBase miRNAs that target SLC6A2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC6A2 Gene

Localization for SLC6A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A2 Gene COMPARTMENTS Subcellular localization image for SLC6A2 gene
Compartment Confidence
plasma membrane 4
extracellular 2
nucleus 2
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane TAS 2008212
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with SLC6A2: view

Pathways for SLC6A2 Gene

genes like me logo Genes that share pathways with SLC6A2: view

Gene Ontology (GO) - Biological Process for SLC6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2008212
GO:0006836 neurotransmitter transport IEA --
GO:0007268 synaptic transmission TAS 2008212
GO:0015844 monoamine transport IDA 16024787
GO:0015874 norepinephrine transport IEA --
genes like me logo Genes that share ontologies with SLC6A2: view

Compounds for SLC6A2 Gene

(5) Tocris Compounds for SLC6A2 Gene

Compound Action Cas Number
Desipramine hydrochloride Selective inhibitor of noradrenalin transporters [58-28-6]
Nisoxetine hydrochloride Noradrenalin re-uptake inhibitor [57754-86-6]
Reboxetine mesylate Potent, selective noradrenalin uptake inhibitor; orally active [98769-84-7]
Talopram hydrochloride Potent, selective inhibitor of noradrenalin transporters [7013-41-4]
Tomoxetine hydrochloride Potent, selective noradrenalin re-uptake inhibitor [82248-59-7]

(5) HMDB Compounds for SLC6A2 Gene

Compound Synonyms Cas Number PubMed IDs
Bupropion
  • (+-)-Bupropion
34841-39-9
Imipramine
  • Antideprin
50-49-7
Norepinephrine
  • (-)-(R)-Norepinephrine
51-41-2
Sodium
  • Sodium
7440-23-5
Venlafaxine
  • Efectin
93413-69-5

(55) Drugbank Compounds for SLC6A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3,4-Methylenedioxymethamphetamine
  • Ecstasy
42542-10-9 target negative modulator
3,4-Methylenedioxymethamphetamine
  • Ecstasy
42542-10-9 transporter
Amineptine
57574-09-1 target
Amitriptyline
  • Amitriprolidine
50-48-6 target inhibitor
Amoxapine
14028-44-5 target inhibitor

(6) IUPHAR Ligand for SLC6A2 Gene

Ligand Type Action Affinity Pubmed IDs
[3H]mazindol None None 9.3
mazindol Inhibitor Inhibition 8.9
nisoxetine Inhibitor Inhibition 8.4
[3H]nisoxetine None None 8.4
nomifensine Inhibitor Inhibition 8.1
reboxetine Inhibitor Inhibition 8

(101) Novoseek inferred chemical compound relationships for SLC6A2 Gene

Compound -log(P) Hits PubMed IDs
norepinephrine 93.5 284
nisoxetine 89.8 13
lortalamine 87.2 4
reboxetine 85.5 21
desipramine 84.6 49
genes like me logo Genes that share compounds with SLC6A2: view

Transcripts for SLC6A2 Gene

Unigene Clusters for SLC6A2 Gene

Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A2 Gene

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

Relevant External Links for SLC6A2 Gene

GeneLoc Exon Structure for
SLC6A2
ECgene alternative splicing isoforms for
SLC6A2

Expression for SLC6A2 Gene

mRNA expression in normal human tissues for SLC6A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A2 Gene

This gene is overexpressed in Testis (11.5), Skin - Not Sun Exposed (Suprapubic) (6.3), Cervix - Endocervix (5.2), and Adrenal Gland (5.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC6A2 Gene

SOURCE GeneReport for Unigene cluster for SLC6A2 Gene Hs.78036

genes like me logo Genes that share expressions with SLC6A2: view

No data available for mRNA Expression by UniProt/SwissProt for SLC6A2 Gene

Orthologs for SLC6A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A2 35
  • 99.73 (n)
  • 99.68 (a)
SLC6A2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A2 35
  • 90.19 (n)
  • 93.5 (a)
SLC6A2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A2 35
  • 89.63 (n)
  • 93.03 (a)
SLC6A2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a2 35
  • 86.6 (n)
  • 94.33 (a)
Slc6a2 16
Slc6a2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a2 35
  • 87.19 (n)
  • 93.99 (a)
chicken
(Gallus gallus)
Aves SLC6A2 35
  • 76.11 (n)
  • 85.67 (a)
SLC6A2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a2 35
  • 71.38 (n)
  • 79.81 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC565776 35
  • 69.72 (n)
  • 73.37 (a)
slc6a2 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007367 35
  • 62.07 (n)
  • 56.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta DAT 35
  • 58.92 (n)
  • 59.1 (a)
DAT 36
  • 51 (a)
ManyToMany
ine 37
  • 39 (a)
BG:DS03431.1 37
  • 33 (a)
CG7075 37
  • 31 (a)
CG4476 37
  • 35 (a)
SerT 37
  • 54 (a)
DAT 37
  • 55 (a)
CG10804 37
  • 35 (a)
CG3252 37
  • 37 (a)
CG1698 37
  • 36 (a)
CG8850 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea dat-1 35
  • 53.58 (n)
  • 51.33 (a)
dat-1 36
  • 47 (a)
ManyToMany
snf-8 37
  • 25 (a)
snf-4 37
  • 32 (a)
snf-3 37
  • 38 (a)
mod-5 37
  • 46 (a)
snf-12 37
  • 29 (a)
snf-2 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10022 36
  • 38 (a)
ManyToMany
Species with no ortholog for SLC6A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A2 Gene

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

Paralogs for SLC6A2 Gene

Paralogs for SLC6A2 Gene

genes like me logo Genes that share paralogs with SLC6A2: view

Variants for SLC6A2 Gene

Sequence variations from dbSNP and Humsavar for SLC6A2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs5558 - 55,699,647(+) TGCCT(G/T)CCTCC missense, reference
rs5559 - 55,700,190(+) ACGAC(C/T)ACATC missense, reference
rs5560 -- 55,701,883(+) ATCAC(A/G)CCAGA synonymous-codon, reference
rs5561 -- 55,702,322(+) CTGCA(C/G)TTGCA splice-acceptor-variant, intron-variant
rs5562 -- 55,691,971(+) CTGGT(C/G)CATGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SLC6A2 Gene

Variant ID Type Subtype PubMed ID
nsv906673 CNV Loss 21882294
nsv517827 CNV Loss 19592680
dgv892e1 CNV Complex 17122850
esv9043 CNV Gain 19470904
esv8787 CNV Gain 19470904
esv1621115 CNV Insertion 17803354
nsv103423 CNV Insertion 16902084
nsv906674 CNV Gain 21882294
nsv1813 CNV Insertion 18451855
nsv819933 CNV Gain 19587683

Relevant External Links for SLC6A2 Gene

HapMap Linkage Disequilibrium report
SLC6A2
Human Gene Mutation Database (HGMD)
SLC6A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A2 Gene

Disorders for SLC6A2 Gene

(1) OMIM Diseases for SLC6A2 Gene (163970)

UniProtKB/Swiss-Prot

SC6A2_HUMAN
  • 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. {ECO:0000269 PubMed:10684912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(37) Novoseek inferred disease relationships for SLC6A2 Gene

Disease -log(P) Hits PubMed IDs
attention-deficit hyperactivity disorder 68.5 17
mitral valve prolapse 52.6 12
major depression 51 32
autonomic disorder 50.7 1
pheochromocytoma 46.4 11

Relevant External Links for SLC6A2

Genetic Association Database (GAD)
SLC6A2
Human Genome Epidemiology (HuGE) Navigator
SLC6A2
genes like me logo Genes that share disorders with SLC6A2: view

Publications for SLC6A2 Gene

  1. Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. (PMID: 10684912) Shannon J.R. … Robertson D. (N. Engl. J. Med. 2000) 3 4 23 48
  2. Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes. (PMID: 17124432) Ksiazek P. … Buraczynska M. (Kidney Blood Press. Res. 2006) 3 23 25 48
  3. Norepinephrine transporter gene variation modulates acute response to D-amphetamine. (PMID: 17239355) Dlugos A. … de Wit H. (Biol. Psychiatry 2007) 3 23 25 48
  4. The human noradrenaline transporter gene contains multiple polyadenylation sites and two alternatively spliced C-terminal exons. (PMID: 9655936) Porzgen P. … Bruss M. (Biochim. Biophys. Acta 1998) 3 4 23
  5. Norepinephrine transporter and alpha(2c) adrenoceptor allelic variants and personality factors. (PMID: 12210281) Tsai S.J. … Hong C.J. (Am. J. Med. Genet. 2002) 3 23 48

Products for SLC6A2 Gene

  • antibodies-online peptides for SLC6A2
  • antibodies-online antibodies for SLC6A2
  • antibodies-online kits for SLC6A2

Sources for SLC6A2 Gene

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