SLC6A4 Gene
protein-coding GIFtS : 65
GCID: GC17 M028521
solute carrier family 6 (neurotransmitter transporter, serotonin),... (Previous symbol: HTT )
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Aliasesfor SLC6A4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Solute Carrier Family 6 (Neurotransmitter Transporter, Serotonin), Member4 1 2 OCD12 5 HTT1 2 3 5 5-HTTLPR2 5-HTT1 2 5-Hydroxytryptamine Transporter2 SERT11 2 HSERT1 5HTT2 3 Na+/Cl- Dependent Serotonin Transporter2 5HT Transporter2 3 Sodium-Dependent Serotonin Transporter2 SERT2 3 Solute Carrier Family 6 Member 43
Export aliases for SLC6A4 gene to outside databases Previous GC identifers: GC17M028278 GC17M030431 GC17M028670 GC17M025549 GC17M024733
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Summariesfor SLC6A4 gene (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 SLC6A4 : This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 Function : Serotonin transporter whose primary function in the central nervous system involves the regulation ofserotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner summary
for SLC6A4 : 5-HT transporters (serotonin transporters, SERT) are sodium- and chloride-dependent members of the solutecarrier family 6 (SLC6) found widely distributed throughout the brain. They are responsible for re-uptake of5-HT and undergo a conformational change to move one or more molecules per cycle. Structural motifs include12-TM domains, extracellular loops, cytoplasmic C- and N-termini, putative phosphorylation sites acting aspotential targets for PKA and PKC and regions essential for 5-HT selective affinity. There is evidence tosuggest that SERTs are linked to neuroticism, sexual behavior, alcoholism, clinical depression, hypertensionand obsessive-compulsive disorder. Gene Wiki entry for SLC6A4 (Serotonin transporter)
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Genomic Viewsfor SLC6A4 gene
(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_000017.10 NC_018928.1 NT_010799.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC6A4 gene promoter: C/EBPbeta Nkx2-5 POU3F2 C/EBPalpha AREB6 MEF-2A RORalpha1 aMEF-2 NF-kappaB1 Other transcription factors Search SABiosciences Chromatin IP Primers for SLC6A4 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SLC6A4
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2 SLC6A4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17M028521: view genomic region
(about GC identifiers )
Start:
28,521,337 bp from pter
End:
28,563,020 bp from pter
Size:
41,684 bases
Orientation:
minus strand
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Proteinsfor SLC6A4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: SC6A4_HUMAN, P31645 (See
protein sequence )Recommended Name: Sodium-dependent serotonin transporter Size : 630 amino acids; 70325 Da
Subunit : Monomer or homooligomer (By similarity). Interacts with TGFB1I1. Interacts (via sialylated form) with MYH9.Interacts with SEC23A, SEC24C and INADL. Interacts with NOS1; the interaction may diminish the cell surface localization of SERT in the brain and, correspondingly, reduce serotonin reuptake. Interacts with filamentous actin and STX1A (By similarity). Interacts (via C-terminus) with VIM. Interacts (via C-terminus) with SCAMP2; the interaction is direct and retains transporter molecules intracellularly. Interacts with RAB4 (GTP-bound form); the interaction retains transporter molecules intracellularly
Subcellular location : Cell membrane; Multi-pass membrane protein. Endomembrane system; Multi-pass membrane protein.Endosome membrane; Multi-pass membrane protein. Note=Translocates from intracellular locations to the plasma membrane. Density of transporter molecules on the plasma membrane is itself regulated by serotonin
Miscellaneous : This protein is the target of psychomotor stimulants such as amphetamines or cocaine
Secondary accessions : Q5EE02Explore the universe of human proteins at neXtProt for SLC6A4: NX_P31645 Post-translational modifications:
Glycosylated; modification with sialylated N-glycans is a requirement for transporters to associate with each other and to function as homooligomeric forms (By similarity)1
Phosphorylation at Thr-276 increases 5-HT uptake and is required for cGMP-mediated SERT regulation. Phosphorylation upon PKC stimulation modifies the SERT distribution and density in the membrane, and diminishes the uptake capacity1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P31645 SLC6A4 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001036.1 ENSEMBL proteins: ENSP00000385822 ENSP00000463172 ENSP00000378298 ENSP00000261707 Human Recombinant Protein Products: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
SLC6A4 for ontologies About GeneDecksing SLC6A4 Antibody Products: Assay Products for SLC6A4:
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Protein
Domains / Familiesfor SLC6A4 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SLC6A4 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P31645 ProtoNet protein and cluster: P31645
1 Blocks protein family : IPB013086 Serotonin (5-HT) neurotransmitter transporter signature UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 Similarity : Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily
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Functionfor SLC6A4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 Function : Serotonin transporter whose primary function in the central nervous system involves the regulation ofserotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner Induction : Down-regulated when plasma serotonin is elevated
Genatlas biochemistry entry for SLC6A4 : solute carrier family 6,member A4,neurotransmitter transporter,serotonin Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SLC6A4 (NM_001045 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC6A4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SLC6A4
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A4
Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11 ): About this table
SLC6A4 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for SLC6A4 :Animal Models: Mouse knock-outs for SLC6A4: Slc6a4 tm1Kpl Slc6a4 tm1Grch 10 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Slc6a4) :
SLC6A4 for phenotypes About GeneDecksing
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Pathways & Interactionsfor SLC6A4 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/6 super-pathways (see all 6 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Citalopram Pathway, Pharmacokinetics 2 Synaptic Vesicle Pathway 3 SIDS Susceptibility Pathways 4 Monoamine Transport 5 Potassium Channels
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for SLC6A4 3 BioSystems Pathways for SLC6A4 4 PharmGKB Pathways for SLC6A4
SLC6A4 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A4 STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)5/6 Interacting proteins for SLC6A4 (P31645 2 , 3 ENSP00000261707 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 6 )About this table Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28 ): About this table
SLC6A4 for ontologies About GeneDecksing
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Drugs & Compoundsfor SLC6A4 gene (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
SLC6A4 for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for SLC6A4
Compounds for SLC6A4 available from Tocris Bioscience About this table 8 HMDB Compounds for SLC6A4 About this table 10/46 DrugBank Compounds for SLC6A4 (see all 46 ) About this table 10/120 Novoseek chemical compound relationships for SLC6A4 gene (see all 120 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
(r)-citalopram
88.5
41
19616061 (6), 15037515 (5), 16918708 (2), 15695064 (2) (see all 18 )
dasb
88.2
24
14610240 (4), 15312176 (2), 12439295 (1), 17437611 (1) (see all 11 )
(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane
87.2
12
10664833 (2), 10715354 (1), 8110440 (1), 14992979 (1) (see all 10 )
citalopram
85.1
122
16955282 (7), 17235610 (6), 18216289 (4), 18618621 (3) (see all 66 )
maoa
83.6
88
20332182 (5), 18261931 (4), 18937309 (4), 15523490 (3) (see all 42 )
paroxetine
83.4
156
17033844 (5), 18830236 (5), 14566196 (4), 12457263 (4) (see all 65 )
5-hydroxytryptamine
79.6
234
16943551 (5), 12605580 (4), 11325413 (3), 19572987 (3) (see all 93 )
dopamine
79.5
461
2308472 (6), 10612583 (3), 10494878 (3), 8110440 (3) (see all 99 )
fluoxetine
79.5
110
16490163 (6), 17289086 (4), 14604448 (3), 14571357 (2) (see all 62 )
escitalopram
78.8
114
16955282 (8), 19892699 (6), 15037515 (6), 19616061 (6) (see all 33 )
2 PharmGKB related drug/compound annotations for SLC6A4 gene About this table Search CenterWatch for drugs/clinical trials and news about SLC6A4 / SC6A4
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Transcriptsfor SLC6A4 gene (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 ,
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 SLC6A4 gene: NM_001045.5 Unigene Cluster for SLC6A4:
Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 Hs.29792 [show with all ESTs ] Unigene Representative Sequence: NM_001045 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000401766 (uc010csg.3 ) ENST00000579221 ENST00000578609 ENST00000394821 ENST00000261707 (uc002hey.4 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SLC6A4 (NM_001045 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC6A4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SLC6A4
Additional cDNA sequence: AK308014.1 AK309538.1 AK313166.1 AY902473.1 BC069484.1 L05568.1 X70697.1
3 DOTS entries : DT.207569 DT.308332
DT.100682832 15 AceView cDNA sequences :
NM_001045 L05568 BC069484 BU619456 BX399758 BX360891 BQ017027 X70697 AU138385 BQ017574 AA700070 BX339773 AA700086 BM990651 BX329107 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A4 About this scheme ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b SP1 :                                   -         SP2 :                               -     -         SP3 :                                           SP4 :     -                                       SP5 :                                          
ECgene alternative splicing isoforms for SLC6A4
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Expression for SLC6A4 gene
(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 SLC6A4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image SLC6A4 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) Brain Medulla Oblongata Brain Liver Liver Lobule Liver Neural Tube Metencephalon Neural Tube Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See SLC6A4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SLC6A4 SOURCE GeneReport for Unigene cluster: Hs.29792 UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 Tissue specificity : Expressed in platelets (at protein level) SABiosciences Custom PCR Arrays for SLC6A4 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SLC6A4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SLC6A4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SLC6A4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SLC6A4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A4
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Orthologsfor SLC6A4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 SLC6A4 gene from 5/18 species (see all 18 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SLC6A41
solute carrier family 6 (neurotransmitter transporter, more
76.63(n) 81.4(a)
 
404747 NM_213572.1 NP_998737.1
lizard (Anolis carolinensis)
Reptilia
SLC6A46 --
--
75(a) 47(a)
1 ↔ 1possible ortholog
GL343462.1(532186-544777) 2(157192556-157194288)
zebrafish (Danio rerio)
Actinopterygii
slc6a4a1
solute carrier family 6 (neurotransmitter transporter, more
69.29(n) 72.58(a)
 
664719 NM_001039972.1 NP_001035061.1
fruit fly (Drosophila melanogaster)
Insecta
SerT3
serotonin transporter
56(a) (best of 7)
 
60C8 --
worm (Caenorhabditis elegans)
Secernentea
mod-53
--
49(a) (best of 6)
 
I(3035239-3047795) --
ENSEMBL Gene Tree for SLC6A4 (if available)TreeFam Gene Tree for SLC6A4 (if available)
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Paralogsfor SLC6A4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SLC6A4 gene SLC6A6 2 SLC6A11 2 SLC6A12 2 SLC6A14 2 SLC6A5 2 SLC6A8 2 SLC6A3 2 SLC6A1 2 SLC6A13 2 SLC6A7 2 SLC6A2 2 SLC6A9 2 18/20 SIMAP similar genes for SLC6A4 using alignment to 15 protein entries: SC6A4_HUMAN (see all proteins )
(see all similar genes ):5HTT SLC6A3 DAT1 SLC6A2 SLC6A9 SLC6A12 SLC6A7 SLC6A8 SLC6A1 SLC6A14 SLC6A15 SLC6A13 SLC6A5 SLC6A11 SLC6A6 SLC6A18 SLC6A20 DKFZp761I0921
SLC6A4 for paralogs About GeneDecksing
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Genomic Variantsfor SLC6A4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 )
About This Section UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 Polymorphism : A polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR) is locatedapproximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele Polymorphism : The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD)[MIM:164230] Polymorphism : Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780]
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SLC6A4 (28521337 - 28563020 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SLC6A4: -- Human Gene Mutation Database (HGMD) : SLC6A4 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SLC6A4
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Disorders
/ Diseasesfor SLC6A4 gene
(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
SLC6A4 for disorders About GeneDecksing OMIM gene information: 182138 OMIM disorders : 607834 164230 20/154 diseases for SLC6A4 (see all 154 ): About MalaCards obsessive-compulsive disorder sudden infant death syndrome anxiety-related personality traits alcoholism attention deficit hyperactivity disorder hypertension enlarged vestibular aqueduct manic-depressive illness alzheimer's disease antisocial personality disorder obsessive-compulsive disorder 1 pervasive developmental disorder borderline personality disorder seasonal affective disorder personality disorder generalized anxiety disorder shared paranoid disease resting heart rate migraine without aura anxiety disorder 20/21 diseases from the University of Copenhagen DISEASES database for SLC6A4 (see all 21 ):Alcohol dependence Anxiety disorder Irritable bowel syndrome Autistic disorder Schizophrenia Attention deficit hyperactivity disorder Borderline personality disorder Antisocial personality disorder Conduct disorder Substance abuse Toxic encephalopathy Sudden infant death syndrome Constipation Bipolar disorder Migraine Nicotine dependence Eating disorder Premature ejaculation Alcoholic psychosis Parkinson's disease 10/92 Novoseek disease relationships for SLC6A4 gene (see all 92 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
major depression
79.4
193
10862800 (5), 10920459 (5), 18268503 (4), 16640648 (4) (see all 99 )
mood disorders
76
125
11983185 (4), 19233297 (4), 9154246 (4), 9514579 (3) (see all 69 )
obsessive-compulsive disorder
69
65
18354388 (3), 16139170 (2), 18186076 (2), 16112691 (2) (see all 32 )
bipolar disorder
68.6
85
9514585 (4), 10490710 (4), 11772685 (3), 8723051 (3) (see all 44 )
psychiatric disorder
65.8
68
12218657 (3), 19854262 (2), 20150867 (2), 7865169 (1) (see all 42 )
neuroticism
65.7
40
10405095 (4), 17336939 (4), 11443919 (3), 14992987 (2) (see all 23 )
alcoholism
64.2
61
10064377 (3), 16288736 (2), 14574222 (2), 15635638 (2) (see all 41 )
anxiety disorders
58.7
20
11256582 (1), 12660809 (1), 18314311 (1), 10368856 (1) (see all 14 )
attention-deficit hyperactivity disorder
56.9
11
14574222 (1), 17948872 (1), 19894072 (1), 12782968 (1) (see all 9 )
autistic
54.1
38
10686565 (4), 15094787 (3), 12192626 (3), 11920155 (3) (see all 14 )
Genetic Association Database (GAD): SLC6A4 Human Genome Epidemiology (HuGE) Navigator: SLC6A4 (1155 documents) Export disorders for SLC6A4 gene to outside databases
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Publicationsfor SLC6A4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SLC6A4 gene, integrated from 9 sources (see all 2654 ): (articles sorted by number of sources associating them with SLC6A4) Utopia : connect your pdf to the dynamic world of online information
Age-dependent antidepressant pharmacogenomics: polymorphisms of the serotonin transporter and G protein beta3 subunit as predictors of response to fluoxetine and nortriptyline. (PubMed id 14604448) 1 , 4, 7, 9 Joyce P.R....Kennedy M.A. (2003) Meta-analysis of the association of a functional serotonin transporter promoter polymorphism with alcohol dependence. (PubMed id 15635638) 1 , 2 , 4, 9 Feinn R.... Kranzler H.R. (2005) The serotonin transporter polymorphism, 5HTTLPR, is associated with a faster response time to sertraline in an elderly population with major depressive disorder. (PubMed id 12955294) 1 , 4, 7, 9 Durham L.K....Seymour A.B. (2004) Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. (PubMed id 12869766) 1 , 2 , 4, 9 Caspi A....Poulton R. (2003) Influence of the serotonin transporter gene-linked polymorphic region on the antidepressant response to fluvoxamine in Japanese depressed patients. (PubMed id 11817517) 1 , 4, 7, 9 Yoshida K....Otani K. (2002) Allelic variation in the serotonin transporter promoter affects onset of paroxetine treatment response in late-life depression. (PubMed id 11027924) 1 , 4, 7, 9 Pollock B.G....Kupfer D.J. (2000) Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. (PubMed id 7681602) 1 , 2 , 3, 9 Ramamoorthy S.... Blakely R.D. (1993) Serotonin transporter polymorphisms and measures of impulsivity, aggression, and sensation seeking among African-American cocaine-dependent individuals. (PubMed id 12057823) 1 , 4, 7 Patkar A.A....Weinstein S.P. (2002) Subcellular redistribution of the serotonin transporter by secretory carrier membrane protein 2. (PubMed id 16870614) 1 , 2 , 9 Muller H.K....Haase J. (2006) Serotonin transamidates Rab4 and facilitates its binding to the C terminus of serotonin transporter. (PubMed id 18227069) 1 , 2 , 9 Ahmed B.A....Kilic F. (2008)
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External Searches for SLC6A4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SLC6A4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing SLC6A4 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SLC6A4 gene (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 SLC6A4 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A4 SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SLC6A4 Wikipedia http://en.wikipedia.org/wiki/Serotonin_transporter Protein Spotlight http://web.expasy.org/spotlight/back_issues/sptlt123.shtml NIEHS-SNPs http://egp.gs.washington.edu/data/slc6a4/
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About This Section Patent Information for SLC6A4 gene: Search GeneIP for patents involving SLC6A4 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SLC6A4 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for SLC6A4 OriGene shRNA RFP for SLC6A4 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SLC6A4 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SLC6A4 OriGene Protein Over-expression Lysate for SLC6A4 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SLC6A4 OriGene 3'-UTR Clone for SLC6A4 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SLC6A4 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SLC6A4 OriGene Custom Protein Services for SLC6A4 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC6A4 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SLC6A4 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SLC6A4 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SLC6A4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SLC6A4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SLC6A4
SLC6A4 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A4
ThermoFisher Antibodies for SLC6A4
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SLC6A4
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