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Protein

Sodium-dependent noradrenaline transporter

Gene

SLC6A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals.1 Publication

Miscellaneous

This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi71Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi73Sodium 2; via carbonyl oxygenBy similarity1
Metal bindingi74Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi78Sodium 2By similarity1
Metal bindingi318Sodium 2By similarity1
Metal bindingi350Sodium 2By similarity1
Metal bindingi415Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi418Sodium 1By similarity1
Metal bindingi419Sodium 1By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actin binding Source: ARUK-UCL
  • alpha-tubulin binding Source: Ensembl
  • beta-tubulin binding Source: Ensembl
  • dopamine:sodium symporter activity Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • monoamine transmembrane transporter activity Source: MGI
  • neurotransmitter:sodium symporter activity Source: InterPro
  • norepinephrine:sodium symporter activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processNeurotransmitter transport, Symport, Transport
LigandMetal-binding, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-5619109 Defective SLC6A2 causes orthostatic intolerance (OI)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.22.1.2 the neurotransmitter:sodium symporter (nss) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium-dependent noradrenaline transporter
Alternative name(s):
Norepinephrine transporter
Short name:
NET
Solute carrier family 6 member 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC6A2
Synonyms:NAT1, NET1, SLC6A5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103546.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11048 SLC6A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
163970 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P23975

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 62CytoplasmicBy similarityAdd BLAST62
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei63 – 88Helical; Name=1By similarityAdd BLAST26
Topological domaini89 – 92ExtracellularBy similarity4
Transmembranei93 – 116Helical; Name=2By similarityAdd BLAST24
Topological domaini117 – 135CytoplasmicBy similarityAdd BLAST19
Transmembranei136 – 166Helical; Name=3By similarityAdd BLAST31
Topological domaini167 – 233ExtracellularBy similarityAdd BLAST67
Transmembranei234 – 254Helical; Name=4By similarityAdd BLAST21
Topological domaini255 – 257CytoplasmicBy similarity3
Transmembranei258 – 282Helical; Name=5By similarityAdd BLAST25
Topological domaini283 – 306ExtracellularBy similarityAdd BLAST24
Transmembranei307 – 332Helical; Name=6By similarityAdd BLAST26
Topological domaini333 – 338CytoplasmicBy similarity6
Transmembranei339 – 362Helical; Name=7By similarityAdd BLAST24
Topological domaini363 – 402ExtracellularBy similarityAdd BLAST40
Transmembranei403 – 428Helical; Name=8By similarityAdd BLAST26
Topological domaini429 – 443CytoplasmicBy similarityAdd BLAST15
Transmembranei444 – 464Helical; Name=9By similarityAdd BLAST21
Topological domaini465ExtracellularBy similarity1
Transmembranei466 – 492Helical; Name=10By similarityAdd BLAST27
Topological domaini493 – 522CytoplasmicBy similarityAdd BLAST30
Transmembranei523 – 545Helical; Name=11By similarityAdd BLAST23
Topological domaini546 – 548ExtracellularBy similarity3
Transmembranei549 – 569Helical; Name=12By similarityAdd BLAST21
Topological domaini570 – 617CytoplasmicBy similarityAdd BLAST48

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Orthostatic intolerance (OI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSyndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high.
See also OMIM:604715
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010022457A → P in OI; loss of function. 1 PublicationCorresponds to variant dbSNP:rs121918126EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6530

MalaCards human disease database

More...
MalaCardsi
SLC6A2
MIMi604715 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103546

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
443236 Postural orthostatic tachycardia syndrome due to NET deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA310

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL222

Drug and drug target database

More...
DrugBanki
DB04836 Amineptine
DB00321 Amitriptyline
DB00543 Amoxapine
DB00182 Amphetamine
DB00289 Atomoxetine
DB04889 Bicifadine
DB01156 Bupropion
DB01114 Chlorphenamine
DB00215 Citalopram
DB01242 Clomipramine
DB00907 Cocaine
DB05688 CRx-119
DB04840 Debrisoquin
DB01151 Desipramine
DB06700 Desvenlafaxine
DB06701 Dexmethylphenidate
DB01576 Dextroamphetamine
DB00514 Dextromethorphan
DB00937 Diethylpropion
DB00988 Dopamine
DB01142 Doxepin
DB06262 Droxidopa
DB00476 Duloxetine
DB01363 Ephedra
DB01364 Ephedrine
DB00696 Ergotamine
DB01175 Escitalopram
DB01381 Ginkgo biloba
DB00226 Guanadrel
DB01170 Guanethidine
DB00458 Imipramine
DB06704 Iobenguane
DB01221 Ketamine
DB08918 Levomilnacipran
DB00408 Loxapine
DB00934 Maprotiline
DB00579 Mazindol
DB01577 Methamphetamine
DB00422 Methylphenidate
DB06148 Mianserin
DB04896 Milnacipran
DB00370 Mirtazapine
DB01442 MMDA
DB01149 Nefazodone
DB04821 Nomifensine
DB00368 Norepinephrine
DB00540 Nortriptyline
DB01173 Orphenadrine
DB00715 Paroxetine
DB00454 Pethidine
DB01579 Phendimetrazine
DB00830 Phenmetrazine
DB00191 Phentermine
DB00344 Protriptyline
DB00852 Pseudoephedrine
DB00234 Reboxetine
DB01105 Sibutramine
DB06204 Tapentadol
DB00193 Tramadol
DB00726 Trimipramine
DB00285 Venlafaxine
DB05012 XEN2174

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
926

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC6A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
128616

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002147481 – 617Sodium-dependent noradrenaline transporterAdd BLAST617

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi176 ↔ 185By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P23975

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P23975

PeptideAtlas

More...
PeptideAtlasi
P23975

PRoteomics IDEntifications database

More...
PRIDEi
P23975

ProteomicsDB human proteome resource

More...
ProteomicsDBi
54172

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P23975

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P23975

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103546 Expressed in 94 organ(s), highest expression level in chorionic villus

CleanEx database of gene expression profiles

More...
CleanExi
HS_NAT1
HS_NET1
HS_SLC6A2
HS_SLC6A5

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P23975 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P23975 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB078195
HPA004057
HPA076311

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PRKCABP.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112421, 3 interactors

Molecular INTeraction database

More...
MINTi
P23975

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000219833

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P23975

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P23975

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158960

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000116406

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG071421

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P23975

KEGG Orthology (KO)

More...
KOi
K05035

Identification of Orthologs from Complete Genome Data

More...
OMAi
AYCITPE

Database of Orthologous Groups

More...
OrthoDBi
250396at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P23975

TreeFam database of animal gene trees

More...
TreeFami
TF343812

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000175 Na/ntran_symport
IPR002435 Na/ntran_symport_noradrenaline
IPR037272 SNS_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11616 PTHR11616, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00209 SNF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00176 NANEUSMPORT
PR01201 NORTRANSPORT

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF161070 SSF161070, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P23975-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLLARMNPQV QPENNGADTG PEQPLRARKT AELLVVKERN GVQCLLAPRD
60 70 80 90 100
GDAQPRETWG KKIDFLLSVV GFAVDLANVW RFPYLCYKNG GGAFLIPYTL
110 120 130 140 150
FLIIAGMPLF YMELALGQYN REGAATVWKI CPFFKGVGYA VILIALYVGF
160 170 180 190 200
YYNVIIAWSL YYLFSSFTLN LPWTDCGHTW NSPNCTDPKL LNGSVLGNHT
210 220 230 240 250
KYSKYKFTPA AEFYERGVLH LHESSGIHDI GLPQWQLLLC LMVVVIVLYF
260 270 280 290 300
SLWKGVKTSG KVVWITATLP YFVLFVLLVH GVTLPGASNG INAYLHIDFY
310 320 330 340 350
RLKEATVWID AATQIFFSLG AGFGVLIAFA SYNKFDNNCY RDALLTSSIN
360 370 380 390 400
CITSFVSGFA IFSILGYMAH EHKVNIEDVA TEGAGLVFIL YPEAISTLSG
410 420 430 440 450
STFWAVVFFV MLLALGLDSS MGGMEAVITG LADDFQVLKR HRKLFTFGVT
460 470 480 490 500
FSTFLLALFC ITKGGIYVLT LLDTFAAGTS ILFAVLMEAI GVSWFYGVDR
510 520 530 540 550
FSNDIQQMMG FRPGLYWRLC WKFVSPAFLL FVVVVSIINF KPLTYDDYIF
560 570 580 590 600
PPWANWVGWG IALSSMVLVP IYVIYKFLST QGSLWERLAY GITPENEHHL
610
VAQRDIRQFQ LQHWLAI
Length:617
Mass (Da):69,332
Last modified:March 1, 1992 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBDC6DF31316907BB
GO
Isoform 2 (identifier: P23975-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     611-617: LQHWLAI → MKTRQGRRRATNSCQISC

Show »
Length:628
Mass (Da):70,548
Checksum:i4CF79AD92F272587
GO
Isoform 3 (identifier: P23975-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: MLLARMNPQV...TVWKICPFFK → MGVQWWSHTQGEVAVGLGLGDSYLTPCPCP

Show »
Length:512
Mass (Da):57,370
Checksum:iB25C836CA8BA912F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRE9H3BRE9_HUMAN
Transporter
SLC6A2 hCG_2025341
572Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BMY5H3BMY5_HUMAN
Transporter
SLC6A2
200Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BML6H3BML6_HUMAN
Transporter
SLC6A2
604Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BM11H3BM11_HUMAN
Transporter
SLC6A2
561Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRS0H3BRS0_HUMAN
Transporter
SLC6A2
295Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L368I3L368_HUMAN
Sodium-dependent noradrenaline tran...
SLC6A2
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0291577N → K. Corresponds to variant dbSNP:rs11568323EnsemblClinVar.1
Natural variantiVAR_01175669V → I. Corresponds to variant dbSNP:rs1805064Ensembl.1
Natural variantiVAR_01175799T → I. Corresponds to variant dbSNP:rs1805065Ensembl.1
Natural variantiVAR_011758245V → I. Corresponds to variant dbSNP:rs1805066Ensembl.1
Natural variantiVAR_020048283T → R. Corresponds to variant dbSNP:rs45564432EnsemblClinVar.1
Natural variantiVAR_011759292N → T. Corresponds to variant dbSNP:rs5563Ensembl.1
Natural variantiVAR_011760356V → L. Corresponds to variant dbSNP:rs5565Ensembl.1
Natural variantiVAR_011761369A → P. Corresponds to variant dbSNP:rs5566Ensembl.1
Natural variantiVAR_011762375N → S. Corresponds to variant dbSNP:rs5567Ensembl.1
Natural variantiVAR_014800449V → I. Corresponds to variant dbSNP:rs2234910Ensembl.1
Natural variantiVAR_010022457A → P in OI; loss of function. 1 PublicationCorresponds to variant dbSNP:rs121918126EnsemblClinVar.1
Natural variantiVAR_011763463K → R. Corresponds to variant dbSNP:rs5570Ensembl.1
Natural variantiVAR_011764478G → S. Corresponds to variant dbSNP:rs1805067Ensembl.1
Natural variantiVAR_011765528F → C. Corresponds to variant dbSNP:rs5558Ensembl.1
Natural variantiVAR_011766548Y → H. Corresponds to variant dbSNP:rs5559Ensembl.1
Natural variantiVAR_021861549I → T. Corresponds to variant dbSNP:rs3743788EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0541191 – 135MLLAR…CPFFK → MGVQWWSHTQGEVAVGLGLG DSYLTPCPCP in isoform 3. 1 PublicationAdd BLAST135
Alternative sequenceiVSP_044479611 – 617LQHWLAI → MKTRQGRRRATNSCQISC in isoform 2. Curated7

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M65105 mRNA Translation: AAA59943.1
X91117
, X91120, X91121, X91122, X91123, X91124, X91125, X91126, X91127, X91118, X91119 Genomic DNA Translation: CAA62566.1
X91117
, X91118, X91119, X91120, X91121, X91122, X91123, X91124, X91125, X91126, X91127 Genomic DNA Translation: CAC39181.1
AK301811 mRNA Translation: BAG63260.1
AK312793 mRNA Translation: BAG35654.1
AC136621 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW82831.1
CH471092 Genomic DNA Translation: EAW82833.1
CH471092 Genomic DNA Translation: EAW82835.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10754.1 [P23975-1]
CCDS54011.1 [P23975-2]
CCDS58463.1 [P23975-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
S14278

NCBI Reference Sequences

More...
RefSeqi
NP_001034.1, NM_001043.3 [P23975-1]
NP_001165972.1, NM_001172501.1 [P23975-1]
NP_001165973.1, NM_001172502.1 [P23975-3]
NP_001165975.1, NM_001172504.1 [P23975-2]
XP_006721326.1, XM_006721263.2 [P23975-2]
XP_011521597.1, XM_011523295.1 [P23975-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.78036

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000219833; ENSP00000219833; ENSG00000103546 [P23975-2]
ENST00000379906; ENSP00000369237; ENSG00000103546 [P23975-1]
ENST00000567238; ENSP00000457375; ENSG00000103546 [P23975-3]
ENST00000568943; ENSP00000457473; ENSG00000103546 [P23975-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6530

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6530

UCSC genome browser

More...
UCSCi
uc002eif.4 human [P23975-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M65105 mRNA Translation: AAA59943.1
X91117
, X91120, X91121, X91122, X91123, X91124, X91125, X91126, X91127, X91118, X91119 Genomic DNA Translation: CAA62566.1
X91117
, X91118, X91119, X91120, X91121, X91122, X91123, X91124, X91125, X91126, X91127 Genomic DNA Translation: CAC39181.1
AK301811 mRNA Translation: BAG63260.1
AK312793 mRNA Translation: BAG35654.1
AC136621 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW82831.1
CH471092 Genomic DNA Translation: EAW82833.1
CH471092 Genomic DNA Translation: EAW82835.1
CCDSiCCDS10754.1 [P23975-1]
CCDS54011.1 [P23975-2]
CCDS58463.1 [P23975-3]
PIRiS14278
RefSeqiNP_001034.1, NM_001043.3 [P23975-1]
NP_001165972.1, NM_001172501.1 [P23975-1]
NP_001165973.1, NM_001172502.1 [P23975-3]
NP_001165975.1, NM_001172504.1 [P23975-2]
XP_006721326.1, XM_006721263.2 [P23975-2]
XP_011521597.1, XM_011523295.1 [P23975-2]
UniGeneiHs.78036

3D structure databases

ProteinModelPortaliP23975
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112421, 3 interactors
MINTiP23975
STRINGi9606.ENSP00000219833

Chemistry databases

BindingDBiP23975
ChEMBLiCHEMBL222
DrugBankiDB04836 Amineptine
DB00321 Amitriptyline
DB00543 Amoxapine
DB00182 Amphetamine
DB00289 Atomoxetine
DB04889 Bicifadine
DB01156 Bupropion
DB01114 Chlorphenamine
DB00215 Citalopram
DB01242 Clomipramine
DB00907 Cocaine
DB05688 CRx-119
DB04840 Debrisoquin
DB01151 Desipramine
DB06700 Desvenlafaxine
DB06701 Dexmethylphenidate
DB01576 Dextroamphetamine
DB00514 Dextromethorphan
DB00937 Diethylpropion
DB00988 Dopamine
DB01142 Doxepin
DB06262 Droxidopa
DB00476 Duloxetine
DB01363 Ephedra
DB01364 Ephedrine
DB00696 Ergotamine
DB01175 Escitalopram
DB01381 Ginkgo biloba
DB00226 Guanadrel
DB01170 Guanethidine
DB00458 Imipramine
DB06704 Iobenguane
DB01221 Ketamine
DB08918 Levomilnacipran
DB00408 Loxapine
DB00934 Maprotiline
DB00579 Mazindol
DB01577 Methamphetamine
DB00422 Methylphenidate
DB06148 Mianserin
DB04896 Milnacipran
DB00370 Mirtazapine
DB01442 MMDA
DB01149 Nefazodone
DB04821 Nomifensine
DB00368 Norepinephrine
DB00540 Nortriptyline
DB01173 Orphenadrine
DB00715 Paroxetine
DB00454 Pethidine
DB01579 Phendimetrazine
DB00830 Phenmetrazine
DB00191 Phentermine
DB00344 Protriptyline
DB00852 Pseudoephedrine
DB00234 Reboxetine
DB01105 Sibutramine
DB06204 Tapentadol
DB00193 Tramadol
DB00726 Trimipramine
DB00285 Venlafaxine
DB05012 XEN2174
GuidetoPHARMACOLOGYi926

Protein family/group databases

TCDBi2.A.22.1.2 the neurotransmitter:sodium symporter (nss) family

PTM databases

iPTMnetiP23975
PhosphoSitePlusiP23975

Polymorphism and mutation databases

BioMutaiSLC6A2
DMDMi128616

Proteomic databases

MaxQBiP23975
PaxDbiP23975
PeptideAtlasiP23975
PRIDEiP23975
ProteomicsDBi54172

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6530
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000219833; ENSP00000219833; ENSG00000103546 [P23975-2]
ENST00000379906; ENSP00000369237; ENSG00000103546 [P23975-1]
ENST00000567238; ENSP00000457375; ENSG00000103546 [P23975-3]
ENST00000568943; ENSP00000457473; ENSG00000103546 [P23975-1]
GeneIDi6530
KEGGihsa:6530
UCSCiuc002eif.4 human [P23975-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6530
DisGeNETi6530
EuPathDBiHostDB:ENSG00000103546.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC6A2
HGNCiHGNC:11048 SLC6A2
HPAiCAB078195
HPA004057
HPA076311
MalaCardsiSLC6A2
MIMi163970 gene
604715 phenotype
neXtProtiNX_P23975
OpenTargetsiENSG00000103546
Orphaneti443236 Postural orthostatic tachycardia syndrome due to NET deficiency
PharmGKBiPA310

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000158960
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiP23975
KOiK05035
OMAiAYCITPE
OrthoDBi250396at2759
PhylomeDBiP23975
TreeFamiTF343812

Enzyme and pathway databases

ReactomeiR-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-5619109 Defective SLC6A2 causes orthostatic intolerance (OI)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC6A2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Norepinephrine_transporter

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6530

Protein Ontology

More...
PROi
PR:P23975

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103546 Expressed in 94 organ(s), highest expression level in chorionic villus
CleanExiHS_NAT1
HS_NET1
HS_SLC6A2
HS_SLC6A5
ExpressionAtlasiP23975 baseline and differential
GenevisibleiP23975 HS

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002435 Na/ntran_symport_noradrenaline
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR00176 NANEUSMPORT
PR01201 NORTRANSPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSC6A2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23975
Secondary accession number(s): B2R707, B4DX48, Q96KH8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: January 16, 2019
This is version 184 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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