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 mentati... See more...

Aliases for SLC6A2 Gene

Aliases for SLC6A2 Gene

  • Solute Carrier Family 6 Member 2 2 3 4 5
  • Norepinephrine Transporter 2 3 4
  • NET 2 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Noradrenalin), Member 2 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 2 2 3
  • Sodium-Dependent Noradrenaline Transporter 3 4
  • SLC6A5 3 4
  • NAT1 3 4
  • NET1 3 4
  • Solute Carrier Family 6 Member 5 3
  • Neurotransmitter Transporter 3
  • SLC6A2 5

External Ids for SLC6A2 Gene

Previous HGNC Symbols for SLC6A2 Gene

  • NET1
  • NAT1
  • SLC6A5

Previous GeneCards Identifiers for SLC6A2 Gene

  • GC16M046129
  • GC16P055745
  • GC16P055428
  • GC16P055469
  • GC16P054247
  • GC16P041576

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 Member 2) is a Protein Coding gene. Diseases associated with SLC6A2 include Orthostatic Intolerance and Syncope. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Sympathetic Nerve Pathway (Neuroeffector Junction). Gene Ontology (GO) annotations related to this gene include beta-tubulin binding and neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A3.

UniProtKB/Swiss-Prot Summary 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 re-uptake of adrenalin and noradrenalin.

Gene Wiki entry for SLC6A2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A2 Gene

Genomics for SLC6A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC6A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J055658 Promoter/Enhancer 0.9 Ensembl ENCODE 256 +0.4 397 0.8 ZIC2 SIN3A CTCF CHD2 PRDM10 USF1 KDM1A EZH2 ZNF335 ZBTB26 SLC6A2 HSALNG0111656 piR-48965-053 CES1
GH16J055655 Promoter 0.5 EPDnew 250.7 -0.1 -83 0.1 KDM1A EZH2 HSALNG0111656 SLC6A2 HSALNG0111655 CAPNS2
GH16J055659 Promoter 0.4 Ensembl 250.7 +1.3 1296 0.2 EZH2 HSALNG0111656 SLC6A2 piR-48965-053 CES1
GH16J055656 Enhancer 0.4 ENCODE 279.2 +1.0 980 0.2 SIN3A EZH2 ZNF335 SLC6A2 HSALNG0111656 piR-48965-053 CES1
GH16J055667 Enhancer 0.7 Ensembl ENCODE 27.3 +13.0 12982 2 SAP130 SOX5 ZMYM3 FOS RFX1 TOE1 MNT USF1 KDM1A SLC6A2 CAPNS2 MMP2 LPCAT2 HSALNG0111656 piR-48965-053 CES1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC6A2

Top Transcription factor binding sites by QIAGEN in the SLC6A2 gene promoter:
  • AP-1
  • Arnt
  • C/EBPbeta
  • COMP1
  • GATA-1
  • GATA-2
  • LyF-1
  • MIF-1
  • Nkx2-5
  • POU3F1

Genomic Locations for SLC6A2 Gene

Latest Assembly
chr16:55,655,604-55,706,192
(GRCh38/hg38)
Size:
50,589 bases
Orientation:
Plus strand

Previous Assembly
chr16:55,689,900-55,740,104
(GRCh37/hg19 by Entrez Gene)
Size:
50,205 bases
Orientation:
Plus strand

chr16:55,689,516-55,740,104
(GRCh37/hg19 by Ensembl)
Size:
50,589 bases
Orientation:
Plus strand

Genomic View for SLC6A2 Gene

Genes around SLC6A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SLC6A2 Gene

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

No data available for DME Specific Peptides for SLC6A2 Gene

Domains & Families for SLC6A2 Gene

Gene Families for SLC6A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A2 Gene

InterPro:
Blocks:
  • Noradrenaline neurotransmitter transporter signature

Suggested Antigen Peptide Sequences for SLC6A2 Gene

GenScript: Design optimal peptide antigens:
  • Transporter (B4DX48_HUMAN)
  • Transporter (F5H0T4_HUMAN)
  • Transporter (Q96KH8_HUMAN)
  • Transporter (Q9BW84_HUMAN)
  • Solute carrier family 6 member 2 (SC6A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23975

UniProtKB/Swiss-Prot:

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

Function for SLC6A2 Gene

Molecular function for SLC6A2 Gene

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

Phenotypes From GWAS Catalog for SLC6A2 Gene

Gene Ontology (GO) - Molecular Function for SLC6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IPI 18331289
GO:0005326 neurotransmitter transporter activity IEA,ISS --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005330 dopamine:sodium symporter activity IBA 21873635
GO:0005334 norepinephrine:sodium symporter activity IBA,TAS --
genes like me logo Genes that share ontologies with SLC6A2: view
genes like me logo Genes that share phenotypes with SLC6A2: view

Human Phenotype Ontology for SLC6A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A2 Gene

MGI Knock Outs for SLC6A2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A2

Clone products for research

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

Localization for SLC6A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A2 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

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 TAS,IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane TAS 2008212
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC6A2: view

Pathways & Interactions 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:0006836 neurotransmitter transport ISS --
GO:0007268 chemical synaptic transmission TAS 2008212
GO:0015844 monoamine transport IDA 16024787
GO:0015874 norepinephrine transport IBA 21873635
GO:0035725 sodium ion transmembrane transport IBA 21873635
genes like me logo Genes that share ontologies with SLC6A2: view

No data available for SIGNOR curated interactions for SLC6A2 Gene

Drugs & Compounds for SLC6A2 Gene

(154) Drugs for SLC6A2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mazindol Approved, Investigational Pharma Inhibitor, Inhibition, Target 3
Reboxetine Approved, Experimental Pharma Inhibitor, Inhibition, Target 31
Atomoxetine Approved Pharma Target, inhibitor 0
Methylphenidate Approved, Investigational Pharma Target, inhibitor, blocker 443
Venlafaxine Approved Pharma Target, inhibitor Dual serotonin/noradrenalin re-uptake inhibitor 0

(40) Additional Compounds for SLC6A2 Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
[<sup>3</sup>H]mazindol
Maprotiline hydrochloride
10347-81-6
Tomoxetine hydrochloride
82248-59-7

(5) Tocris Compounds for SLC6A2 Gene

Compound Action Cas Number
Bicifadine hydrochloride Noradrenalin, 5-HT and dopamine re-uptake inhibitor 66504-75-4
Maprotiline hydrochloride Noradrenalin re-uptake inhibitor 10347-81-6
Nisoxetine hydrochloride Noradrenalin re-uptake inhibitor 57754-86-6
Reboxetine mesylate Potent, selective noradrenalin uptake inhibitor; orally active 98769-84-7
Tomoxetine hydrochloride Potent, selective noradrenalin re-uptake inhibitor 82248-59-7

(13) ApexBio Compounds for SLC6A2 Gene

Compound Action Cas Number
Atomoxetine HCl Noradrenalin re-uptake inhibitor 82248-59-7
Bicifadine hydrochloride 66504-75-4
Bupropion hydrochloride Dopamine/norepinephrine inhibitor 31677-93-7
CHC 28166-41-8
Desipramine hydrochloride 58-28-6
Indatraline hydrochloride 96850-13-4
Lofepramine 23047-25-8
Milnacipran HCl 101152-94-7
Nisoxetine hydrochloride 57754-86-6
Reboxetine mesylate 98769-84-7
Reserpine hydrochloride 16994-56-2
Talopram hydrochloride 7013-41-4
Talsupram hydrochloride 25487-28-9
genes like me logo Genes that share compounds with SLC6A2: view

Drug products for research

Transcripts for SLC6A2 Gene

mRNA/cDNA for SLC6A2 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC6A2

Clone products for research

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

Expression for SLC6A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x11.5), Skin - Not Sun Exposed (Suprapubic) (x6.3), Cervix - Endocervix (x5.2), and Adrenal Gland (x5.1).

Protein differential expression in normal tissues from HIPED for SLC6A2 Gene

This gene is overexpressed in Esophagus (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC6A2 Gene



Protein tissue co-expression partners for SLC6A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC6A2

SOURCE GeneReport for Unigene cluster for SLC6A2 Gene:

Hs.78036

Evidence on tissue expression from TISSUES for SLC6A2 Gene

  • Lung(4.2)
  • Nervous system(3)
  • Adrenal gland(2.7)
  • Blood(2.4)
  • Skin(2.3)
  • Heart(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A2 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with SLC6A2: view

Primer products for research

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 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC6A2 29 30
  • 90.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC6A2 29 30
  • 89.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A2 30
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc6a2 29
  • 87.19 (n)
Mouse
(Mus musculus)
Mammalia Slc6a2 29 16 30
  • 86.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC6A2 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC6A2 29 30
  • 76.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC6A2 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc6a2 29
  • 71.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc6a2 30
  • 70 (a)
OneToOne
LOC565776 29
  • 69.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007367 29
  • 62.07 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta DAT 29 30 31
  • 58.92 (n)
ManyToMany
SerT 31
  • 54 (a)
ine 31
  • 39 (a)
CG3252 31
  • 37 (a)
CG1698 31
  • 36 (a)
CG10804 31
  • 35 (a)
CG4476 31
  • 35 (a)
CG8850 31
  • 35 (a)
BG:DS03431.1 31
  • 33 (a)
CG7075 31
  • 31 (a)
Worm
(Caenorhabditis elegans)
Secernentea dat-1 29 30
  • 53.58 (n)
ManyToMany
mod-5 31
  • 46 (a)
snf-3 31
  • 38 (a)
snf-4 31
  • 32 (a)
snf-2 31
  • 31 (a)
snf-12 31
  • 29 (a)
snf-8 31
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10022 30
  • 38 (a)
ManyToMany
Species where no ortholog for SLC6A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A2: view image
Alliance of Genome Resources:
Additional Orthologs for SLC6A2

Paralogs for SLC6A2 Gene

(21) SIMAP similar genes for SLC6A2 Gene using alignment to 9 proteins:

  • SC6A2_HUMAN
  • B4DX48_HUMAN
  • H3BM11_HUMAN
  • H3BML6_HUMAN
  • H3BMY5_HUMAN
  • H3BRE9_HUMAN
  • H3BRS0_HUMAN
  • I3L368_HUMAN
  • Q9BW84_HUMAN
genes like me logo Genes that share paralogs with SLC6A2: view

Variants for SLC6A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC6A2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1085307494 Uncertain Significance: SLC6A2-related disorder; not provided 55,699,648(+) C/G
NM_001172504.1(SLC6A2):c.1584C>G (p.Phe528Leu)
MISSENSE
rs113163898 Uncertain Significance: Orthostatic intolerance 55,702,761(+) AC/A
NM_001172504.1(SLC6A2):c.1830+828del
THREE_PRIME_UTR_VARIANT,INTRON
rs11568321 Benign: not provided 55,656,811(+) C/T
NM_001172504.1(SLC6A2):c.117C>T (p.Arg39=)
SYNONYMOUS
rs121918126 Pathogenic: Orthostatic intolerance. Orthostatic intolerance (OI) [MIM:604715] 55,698,005(+) G/Cp.Ala457Pro
NM_001172504.1(SLC6A2):c.1369G>C (p.Ala457Pro)
MISSENSE
rs138435822 Likely Benign: not provided 55,698,480(+) C/T
NM_001172504.1(SLC6A2):c.1401C>T (p.Tyr467=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC6A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv61e19 CNV gain 19470904
esv1621115 CNV insertion 17803354
esv2758649 CNV gain 17122850
esv3310496 CNV novel sequence insertion 20981092
esv3409715 CNV insertion 20981092
esv3440837 CNV insertion 20981092
esv3571298 CNV gain 25503493
esv3638684 CNV gain 21293372
nsv103423 CNV insertion 16902084
nsv1813 CNV insertion 18451855
nsv478556 CNV novel sequence insertion 20440878
nsv517827 CNV loss 19592680
nsv572631 CNV loss 21841781
nsv819933 CNV gain 19587683

Variation tolerance for SLC6A2 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A2 Gene

Human Gene Mutation Database (HGMD)
SLC6A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A2
Leiden Open Variation Database (LOVD)
SLC6A2

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC6A2 Gene

MalaCards: The human disease database

(41) MalaCards diseases for SLC6A2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
orthostatic intolerance
  • neurocirculatory asthenia
syncope
oppositional defiant disorder
generalized anxiety disorder
  • anxiety generalized
cocaine abuse
  • cocaine-related disorders
- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for SLC6A2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC6A2: view

No data available for Genatlas for SLC6A2 Gene

Publications for SLC6A2 Gene

  1. Norepinephrine transporter gene variation modulates acute response to D-amphetamine. (PMID: 17239355) Dlugos A … de Wit H (Biological psychiatry 2007) 3 22 25 40
  2. Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes. (PMID: 17124432) Ksiazek P … Buraczynska M (Kidney & blood pressure research 2006) 3 22 25 40
  3. Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. (PMID: 10684912) Shannon JR … Robertson D (The New England journal of medicine 2000) 3 4 40 72
  4. Sympathetic activity relates to adenosine A(2A) receptor gene variation in blood-injury phobia. (PMID: 18629431) Hohoff C … Gerlach AL (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 22 40
  5. Association of major depression with rare functional variants in norepinephrine transporter and serotonin1A receptor genes. (PMID: 19105200) Haenisch B … Bönisch H (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40

Products for SLC6A2 Gene

Sources for SLC6A2 Gene