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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC6A2 Gene

protein-coding GIFtS: 66
GCID: GC16P055745

solute carrier family 6 (neurotransmitter transporter, noradrenalin),...

(Previous symbols: NET1, NAT1, SLC6A5)

Explore 51 diseases affiliated with
SLC6A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter, Noradrenalin), Member 2¹ ²		Norepinephrine Transporter² ³
NAT1¹ ² ³ ⁵		Neurotransmitter Transporter²
NET1¹ ² ³ ⁵		Sodium-Dependent Noradrenaline Transporter²
NET¹ ² ³		Solute Carrier Family 6 Member 5²
SLC6A5¹ ² ³		Solute Carrier Family 6 Member 2³

External Ids:	HGNC: 11048¹	Entrez Gene: 6530²	Ensembl: ENSG00000103546⁷	OMIM: 163970⁵	UniProtKB: P23975³

Export aliases for SLC6A2 gene to outside databases

Previous GC identifers: GC16M046129 GC16P055428 GC16P055469 GC16P054247 GC16P041576

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC6A2:

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)

UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975

Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into

presynaptic terminals

summary for SLC6A2:

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 (Norepinephrine transporter)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC6A2 gene promoter:
C/EBPbeta AP-1 POU3F1 MIF-1 Nkx2-5 GATA-1 GATA-2 Arnt COMP1 LyF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC6A2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC6A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12.2 Ensembl cytogenetic band: 16q12.2 HGNC cytogenetic band: 16q12.2

SLC6A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P055745: view genomic region (about GC identifiers)

Start:	55,689,516 bp from pter	End:	55,740,104 bp from pter
Size:	50,589 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975 (See protein sequence)

Recommended Name: Sodium-dependent noradrenaline transporter

Size: 617 amino acids; 69332 Da

Subunit: Interacts with PRKCABP

Subcellular location: Membrane; Multi-pass membrane protein

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

Secondary accessions: B2R707 Q96KH8

Alternative splicing: 2 isoforms: P23975-1 P23975-2

Explore the universe of human proteins at neXtProt for SLC6A2: NX_P23975

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23975

SLC6A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001034.1 NP_001165972.1 NP_001165973.1 NP_001165975.1

ENSEMBL proteins:

ENSP00000457473 ENSP00000456377 ENSP00000394956 ENSP00000454603 ENSP00000369237

ENSP00000454439 ENSP00000456210 ENSP00000457375 ENSP00000460214 ENSP00000219833

Reactome Protein details: P23975
Human Recombinant Protein Products for SLC6A2:

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	Uscn Proteins for SLC6A2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IEA	--
GO:0016020	membrane	TAS	2008212
GO:0016021	integral to membrane	--	--

SLC6A2 for ontologies About GeneDecksing

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	Search ThermoFisher Antibodies for SLC6A2

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	Uscn ELISAs and CLIAs for SLC6A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC6A2 for domains About GeneDecksing

2 InterPro domains/families:

IPR000175 Na/ntran_symport

IPR002435 Na/ntran_symport_noradrenaline

Graphical View of Domain Structure for InterPro Entry P23975

ProtoNet protein and cluster: P23975

1 Blocks protein family: IPB002435 Noradrenaline neurotransmitter transporter signature

UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975

Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SC6A2_HUMAN, P23975

Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into

presynaptic terminals

Genatlas biochemistry entry for SLC6A2:

solute carrier family 6,member 2,neurotransmitter transporter,noradrenalin/morepinephrine

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005328	neurotransmitter:sodium symporter activity	--	--
GO:0005334	norepinephrine:sodium symporter activity	TAS	2008212
GO:0005515	protein binding	IPI	17156375
GO:0008504	monoamine transmembrane transporter activity	IDA	16024787

SLC6A2 for ontologies About GeneDecksing

Phenotypes:
4 GenomeRNAi human phenotypes for SLC6A2:

Cell division defect

Decreased viability with cispl

Increased G2M DNA content

Increased number of mitotic ce

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc6a2):

behavior/neurological

growth/size

homeostasis/metabolism

integument

nervous system

SLC6A2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC6A2

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		hsa-miR-579 hsa-miR-3910 hsa-miR-181c hsa-miR-197 hsa-miR-23b* hsa-miR-124 hsa-miR-9 hsa-miR-1255a

		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SLC6A2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLC-mediated transmembrane transport

	SLC-mediated transmembrane transport	1.00			Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	0.38
	Transmembrane transport of small molecules	0.50

Amine compound SLC transporters

Amine compound SLC transporters

1.00

Na+/Cl- dependent neurotransmitter transporters

0.63

Sympathetic Nerve Pathway (Neuroeffector Junction)

Sympathetic Nerve Pathway (Neuroeffector Junction)

1.00

Monoamine Transport

Monoamine Transport

1.00

Citalopram Pathway, Pharmacokinetics

Pathway_PA166014758

0.67

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for SLC6A2

Monoamine Transport

5 Reactome Pathways for SLC6A2

	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Na+/Cl- dependent neurotransmitter transporters
	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
	Amine compound SLC transporters

2 PharmGKB Pathways for SLC6A2

	Pathway_PA166014758
	Sympathetic Nerve Pathway (Neuroeffector Junction)

SLC6A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC6A2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for SLC6A2 (P23975^{2, 3} ENSP00000369237⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PICK1	Q9NRD5²^,³, ENSP00000349465⁴	MINT-73297 MINT-73299 MINT-73295 I2D: score=2 STRING: ENSP00000349465
PPP2R1A	P30153³, ENSP00000324804⁴	I2D: score=1 STRING: ENSP00000324804
STX1A	Q16623³, ENSP00000222812⁴	I2D: score=2 STRING: ENSP00000222812

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	2008212
GO:0006836	neurotransmitter transport	--	--
GO:0007268	synaptic transmission	TAS	2008212
GO:0015844	monoamine transport	IDA	16024787
GO:0048265	response to pain	--	--

SLC6A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC6A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for SLC6A2

Compounds for SLC6A2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Tetrabenazine	Potent inhibitor of vesicular monoamine transport	[58-46-8]
Sibutramine hydrochloride	5-HT and noradrenalin re-uptake inhibitor (SNRI)	[84485-00-7]
Tomoxetine hydrochloride	Potent, selective noradrenalin re-uptake inhibitor	[82248-59-7]
WY 45233 succinate	Dual serotonin/noradrenalin re-uptake inhibitor	[386750-22-7]
Reboxetine mesylate	Potent, selective noradrenalin uptake inhibitor; orally active	[71620-89-8]

5 HMDB Compounds for SLC6A2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Bupropion	(+-)-Bupropion (see all 7)	34841-39-9	--
Imipramine	Antideprin (see all 27)	50-49-7	--
Norepinephrine	(-)-(R)-Norepinephrine (see all 32)	51-41-2	--
Sodium	Sodium (see all 2)	7440-23-5	--
Venlafaxine	Efectin (see all 6)	93413-69-5	--

10/50 DrugBank Compounds for SLC6A2 (see all 50) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Duloxetine	Duloxetine HCl (see all 2)	136434-34-9	target	inhibitor	15892657 15316838 12481192 16139169 16650830 11752352 17335951 9669506 18408530 15184278 2784100 20432324 14744476 19480470 16199241
Sibutramine	Sibutramina [Spanish] (see all 2)	106650-56-0	target	inhibitor	10929704 19475780 16678551 12417543 11152984 15382615 15685250 11752352 18671470 15944869 17284621
Atomoxetine	Tomoxetina [Spanish] (see all 4)	82248-59-7	target	--	12523874 18033153 12456942 14709944 12862507 9537821 16142049 15801334 19445548 12547466
Dexmethylphenidate	--	40431-64-9	target	inhibitor	18698001 17218796 15322419 9181638 18480678 17611273 11160413 9537821 11862378 16246598
Desipramine	Demethylimipramine (see all 12)	50-47-5	target	inhibitor	10424850 15814154 12137927 11752352 9537821 15002740 12837768
Methylphenidate	d-methylphenidate HCl (see all 10)	113-45-1	target	inhibitor	18698001 17218796 15322419 17611273 11160413 9537821 16246598
Venlafaxine	Venlafaxina [INN-Spanish] (see all 3)	93413-69-5	target	inhibitor	19238127 19728573 10884561 15910402 16893531 9669506 14744476
Desvenlafaxine	--	93413-62-8	target	inhibitor	17673606 19919295 16675639 19086875 20944767 19698900
Mazindol	--	22232-71-9	target	inhibitor	15300361 16954558 2120386 9537821 12885787 10966747
Nortriptyline	--	72-69-5	target	inhibitor	11502876 8863842 17018806 11092898 9537821 14744476

10/101 Novoseek chemical compound relationships for SLC6A2 gene (see all 101) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
norepinephrine	93.5	1314	18259012 (7), 8610762 (7), 15814154 (6), 16427744 (6) (see all 99)
nisoxetine	89.8	16	8848002 (2), 10447954 (2), 8218295 (1), 16361258 (1) (see all 11)
lortalamine	87.2	7	15914010 (2), 15998285 (1), 17073682 (1)
reboxetine	85.5	24	15998285 (2), 17983754 (2), 12414883 (1), 15170818 (1) (see all 19)
desipramine	84.6	66	15814154 (5), 17850785 (3), 10424850 (3), 8374761 (2) (see all 36)
atomoxetine	82.6	29	16896954 (4), 19387424 (3), 17515448 (2), 17707807 (2) (see all 17)
dopamine	82.2	299	8667208 (4), 16336224 (4), 9092590 (2), 12716261 (2) (see all 99)
m-tyramine	78.5	2	9681456 (1), 12814837 (1)
mibg	78.4	41	17979223 (3), 10455418 (1), 16787344 (1), 17387017 (1) (see all 24)
6-fluorodopamine	76.4	4	11107129 (2), 10899926 (1)

Search CenterWatch for drugs/clinical trials and news about SLC6A2 / SC6A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC6A2 gene (4 alternative transcripts):

NM_001043.3 NM_001172501.1 NM_001172502.1 NM_001172504.1

Unigene Cluster for SLC6A2:

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

Hs.78036 [show with all ESTs]

Unigene Representative Sequence: NM_001172501

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000568943 ENST00000568529 ENST00000414754 ENST00000568655 ENST00000379906(uc002eif.3 uc002eig.3)

ENST00000561820 ENST00000566163 ENST00000567238(uc002eii.3 uc002eij.3 uc021tip.1)

ENST00000574918 ENST00000219833(uc021tio.1)

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		hsa-miR-579 hsa-miR-3910 hsa-miR-181c hsa-miR-197 hsa-miR-23b* hsa-miR-124 hsa-miR-9 hsa-miR-1255a

		SwitchGear 3'UTR luciferase reporter plasmid: SLC6A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against SLC6A2

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Additional cDNA sequence:

AB022846.1 AB022847.1 AK301811.1 AK310410.1 AK312793.1 BC000563.2 BC039309.1 BC060831.1

M65105.1

12 DOTS entries:

DT.100748456 DT.111177 DT.40281724 DT.95281015 DT.91706962 DT.100711624 DT.91745002 DT.100741072

DT.120668967 DT.100705791 DT.99968829 DT.91745171

24/74 AceView cDNA sequences (see all 74):

CB989377 CB989013 BC000563 AI399889 AA610011 BX479214 NM_001043 BC060831

R21410 M65105 BF447532 BQ022169 CD359232 CB990905 BQ026494 BV199237

BQ022097 BE261930 BC039309 CB994468 BX369133 AI765218 BQ881867 AA369327

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A2 About this scheme

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

ECgene alternative splicing isoforms for SLC6A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC6A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SLC6A2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC6A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC6A2

SOURCE GeneReport for Unigene cluster: Hs.78036

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SLC6A2 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC6A2¹	solute carrier family 6 (neurotransmitter transporter, more	76.11(n) 85.67(a)		395458 NM_204716.1 NP_990047.1
lizard (Anolis carolinensis)	Reptilia	SLC6A2⁶	--	75(a)	1 ↔ 1	LGc(2383537-2465626)
zebrafish (Danio rerio)	Actinopterygii	LOC565776¹	sodium-dependent noradrenaline transporter-like	69.78(n) 73.77(a)		565776 XM_689046.4 XP_694138.3
fruit fly (Drosophila melanogaster)	Insecta	DAT^{1 , 3}	dopamine transporter³ Dopamine transporter¹	55(a) (best of 10)³ 58.92(n)¹ 59.1(a)¹		36849¹ NM_079039.3¹ NP_523763.2¹
worm (Caenorhabditis elegans)	Secernentea	mod-5³ dat-1¹	Protein DAT-1¹	46(a) (best of 6)³ 53.95(n)¹ 52.37(a)¹		I(3035239-3047795)³ 176304¹ NM_066642.4¹ NP_499043.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC6A2 gene

SLC6A6² SLC6A11² SLC6A12² SLC6A14² SLC6A5² SLC6A8² SLC6A3² SLC6A1²

SLC6A13² SLC6A4² SLC6A7² SLC6A9²

18/20 SIMAP similar genes for SLC6A2 using alignment to 9 protein entries: SC6A2_HUMAN (see all proteins) (see all similar genes):

SLC6A4 SLC6A12 SLC6A13 SLC6A3 5HTT SLC6A5

SLC6A1 SLC6A6 SLC6A15 SLC6A9 SLC6A7 DAT1

SLC6A8 SLC6A14 SLC6A11 SLC6A19 DKFZp761I0921 SLC6A18

SLC6A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918126^1,2	C	pathogenic	41619357(+)	`TTCTCC/G/TCCCTG`	12	P A S	mis¹		1		NA	4552
rs56094519^1,2	C,F	--	41575453(+)	`NNNNAC/TACCTT`	1	--	us2k¹		4		WA CSA NA	242
rs62028843^1,2	C	--	41575869(+)	`TAGGAT/CAGAGT`	2	--	us2k¹		3		NA WA	240
rs12596277^1,2	H	--	41576056(+)	`CACGGC/GCACCT`	3	--	us2k¹		0	--	--	--	--
rs45447203^1,2		--	41576959(+)	`TCACTC/TGCTCC`	3	--	us2k¹ ut5¹		0	--	--	--	--
rs45548539^1,2		--	41577185(+)	`TACCTG/CGGGCG`	3	--	ut5¹ us2k¹		1		NA	2
rs9938924^1,2	C,F	--	41577741(+)	`AGCGGA/TCGCGC`	3	--	int¹ ut5¹ us2k¹		1		--	510
rs112487960^1,2		--	41577789(+)	`CTCATC/TCCAGT`	3	--	int¹ ut5¹ us2k¹		1		CSA	2
rs11568322^1,2	C	--	41577853(+)	`GGTAAC/TCACCT`	3	--	us2k¹ ut5¹ int¹		2		WA	478
rs28515627^1,2	F	--	41578835(+)	`ATCAGG/TCCAGT`	3	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SLC6A2 (55689516 - 55740104 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SLC6A2
1 CNV: 4007
2 Indels: 58761 63016
Human Gene Mutation Database (HGMD): SLC6A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC6A2 for disorders           About GeneDecksing

OMIM gene information: 163970
OMIM disorders: 604715
UniProtKB/Swiss-Prot: SC6A2_HUMAN, P23975

Defects in SLC6A2 are a cause of orthostatic intolerance (OI) [MIM:604715]. OI is a syndrome characterized by

lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma

norepinephrine concentration is abnormally high

20/51 diseases for SLC6A2 (see all 51): About MalaCards

orthostatic intolerance substance abuse syncope obsessive-compulsive disorder

novelty seeking personality mitral valve prolapse attention deficit hyperactivity disorder multiple endocrine neoplasia type 2a

generalized anxiety disorder anxiety disorder multiple endocrine neoplasia anorexia nervosa

agoraphobia cocaine abuse major depressive disorder heroin dependence

autism spectrum disorder panic disorder tourette syndrome mood disorder

4 diseases from the University of Copenhagen DISEASES database for SLC6A2:

Attention deficit hyperactivity disorder Panic disorder Neuroblastoma Schizophrenia

10/37 Novoseek disease relationships for SLC6A2 gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
attention-deficit hyperactivity disorder	68.5	26	19387424 (2), 16969268 (2), 12716261 (1), 16896954 (1) (see all 15)
mitral valve prolapse	52.6	14	12391111 (2), 11804991 (2), 12805287 (2), 14726430 (1) (see all 9)
major depression	51	51	10512149 (4), 11927173 (4), 15118352 (4), 17353941 (4) (see all 15)
autonomic disorder	50.7	1	12805287 (1)
pheochromocytoma	46.4	15	17102094 (3), 16047163 (2), 19088695 (2), 12574193 (1) (see all 7)
neuroendocrine tumors	40.4	5	15154969 (1), 17979223 (1), 18196892 (1)
panic disorder	40	11	15722184 (4), 16785272 (1), 12401556 (1), 18629431 (1)
mood disorders	33.4	5	11927173 (1), 11606618 (1), 17654409 (1)
generalized anxiety disorder	29.1	1	19337457 (1)
tachycardia	23.7	6	19808400 (2), 19698724 (1), 11458707 (1), 15946904 (1)

Genetic Association Database (GAD): SLC6A2
Human Genome Epidemiology (HuGE) Navigator: SLC6A2 (90 documents)

Export disorders for SLC6A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC6A2 gene, integrated from 9 sources (see all 636):
(articles sorted by number of sources associating them with SLC6A2)

Utopia: connect your pdf to the dynamic
world of online information

Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. (PubMed id 10684912)^{1, 2, 4, 9} Shannon J.R.... Robertson D. (2000)
Association of norepinephrine transporter gene with methylphenidate response. (PubMed id 15322419)^{1, 4, 7} Yang L....Faraone S.V. (2004)
Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter. (PubMed id 2008212)^{1, 2, 3} Pacholczyk T.... Amara S.G. (1991)
Chronic depolarization stimulates norepinephrine transporter expression via catecholamines. (PubMed id 16573647)^{1, 7, 9} Habecker B.A....Woodward W.R. (2006)
Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder. (PubMed id 15722184)^{1, 4, 9} Lee Y.J....Deckert J. (2005)
Association between norepinephrine transporter gene polymorphism and major depression. (PubMed id 15118352)^{1, 4, 9} Ryu S.H....Lee M.S. (2004)
Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes. (PubMed id 17124432)^{1, 7, 9} Ksiazek P....Buraczynska M. (2006)
Norepinephrine transporter gene polymorphism is not associated with susceptibility to major depression. (PubMed id 10512149)^{4, 7, 9} Owen D....Hrdina P.D. (1999)
A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome. (PubMed id 15946904)^{1, 4, 9} Nickander K.K....Low P.A. (2005)
Norepinephrine transporter and alpha(2c) adrenoceptor allelic variants and personality factors. (PubMed id 12210281)^{1, 4, 9} Tsai S.J....Hong C.J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6530	HGNC: 11048	AceView: SLC6A2	Ensembl:ENSG00000103546	euGenes: HUgn6530
ECgene: SLC6A2	H-InvDB: SLC6A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SLC6A2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A5

Intellectual Property for SLC6A2 gene
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Patent Information for SLC6A2 gene:
Search GeneIP for patents involving SLC6A2

GeneCards and IP:
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major depression
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SLC6A2 Gene

solute carrier family 6 (neurotransmitter transporter, noradrenalin),...

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