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SLC6A4 Gene

protein-coding GIFtS: 69

GC17M025549

solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HTT)

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

Aliases
5-HTT ^¹, ²
5-HTTLPR ^²
5HTT ^², ³
HTT ^², ³, ⁵
OCD1 ^², ⁵
SERT ^², ³
hSERT ^²

Descriptions
5-hydroxytryptamine transporter ^²
5HT transporter ^², ³
Na+/Cl- dependent serotonin transporter ^²
Solute carrier family 6 member 4 ^², ³
sodium-dependent serotonin transporter ^²
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ^²

External Ids
HGNC: 11050¹
Entrez Gene: 6532²
UniProtKB: P31645³
Ensembl: ENSG00000108576⁷

Search outside databases for aliases for SLC6A4 gene

Previous GC identifers: GC17M028278 GC17M030431 GC17M028670

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

EntrezGene 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]

UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645

Function: Terminates the action of serotonin by its high affinity sodium-dependent reuptake into

presynaptic terminals

Gene Wiki entry for SLC6A4 (Serotonin_transporter)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SLC6A4 gene

Entrez Gene cytogenetic band: 17q11.1-q12 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 gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M025549: (about GC identifiers)

Start:	25,545,463 bp from pter
End:	25,586,841 bp from pter
Size:	41,379 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000017.9 NT_010799.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645 (See protein sequence)

Recommended Name: Sodium-dependent serotonin transporter

Size: 630 amino acids; 70325 Da

Subunit: Interacts with TGFB1I1

Subcellular location: Membrane; Multi-pass membrane protein

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001036.1

ENSEMBL proteins:

ENSP00000261707 ENSP00000378298 ENSP00000385822

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant SLC6A4 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Serotonin transporter)
	Human Recombinant Proteins from Abnova (SLC6A4)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	7681602
GO:0016020	membrane	IEA	--

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Antibodies for SLC6A4:

	Invitrogen Antibodies for SLC6A4
	Millipore Mono- and Polyclonal Antibodies for the study of SLC6A4
	Sigma-Aldrich Antibodies for SLC6A4
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Serotonin transporter), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for SLC6A4

Assays for SLC6A4:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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) family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SLC6A4)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SLC6A4)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001045

Applied Biosystems Silencer® siRNAs for SLC6A4

Sigma-Aldrich siRNA and siRNA Panels for SLC6A4

Sigma-Aldrich shRNA for SLC6A4

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SLC6A4
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001045
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001045
untagged cDNA clone in CMV expression vector: NM_001045

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001045

UniProtKB/Swiss-Prot: SC6A4_HUMAN, P31645

Function: Terminates the action of serotonin by its high affinity sodium-dependent reuptake into

presynaptic terminals

Genatlas biochemistry entry for SLC6A4:

solute carrier family 6,member A4,neurotransmitter transporter,serotonin

10 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Slc6a4):

	behavior/neurological	endocrine/exocrine gland	growth/size	homeostasis/metabolism
life span-post-weaning/aging	muscle	nervous system	normal	touch/vibrissae

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005335	serotonin:sodium symporter activity	IEA	--
GO:0005515	protein binding	IPI	11343649
GO:0015222	serotonin transmembrane transporter activity	TAS	7681602
GO:0015293	symporter activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for SLC6A4 (Your Favorite Gene powered by Ingenuity)

Serotonin Receptor Signaling

GeneDecks SLC6A4 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for SLC6A4

5/34 Interacting proteins for SLC6A4 (ENSP00000261707³ P31645²) via UniProtKB, MINT, and/or STRING (see all 34 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PICK1	Q9NRD5²	MINT-73296
DRD4	ENSP00000176183³	STRING (score=.966)
DNTT	ENSP00000360216³	STRING (score=.964)
DRD2	ENSP00000347474³	STRING (score=.964)
ITGB3	ENSP00000262017³	STRING (score=.96)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001504	neurotransmitter uptake	TAS	7681602
GO:0006837	serotonin transport	TAS	7681602
GO:0015844	monoamine transport	IDA	16024787

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Enzo Life Sciences drugs & compounds for SLC6A4

Sigma-Aldrich Small Molecules for SLC6A4:

Antagonist Inhibitor Ligand

Compounds for SLC6A4 available from Tocris Bioscience

Compound	Action	CAS number
Tetrabenazine	Potent inhibitor of vesicular monoamine transport; depletes dopamine stores	[58-46-8]
Sertraline hydrochloride	5-HT re-uptake inhibitor	[79559-97-0]
Citalopram hydrobromide	Highly potent and selective 5-HT uptake inhibitor	[59729-33-8]
Fluoxetine hydrochloride	5-HT re-uptake inhibitor	[56296-78-7]
Sibutramine hydrochloride	5-HT and noradrenalin re-uptake inhibitor (SNRI)	[84485-00-7]

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10/31 Novoseek chemical compound relationships for SLC6A4 gene (see all 31 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dasb	87.86	22	14610240 (4), 15312176 (2), 12439295 (1), 17437611 (1) (see all 9)
(r)-citalopram	87.53	32	15037515 (5), 16918708 (2), 15695064 (2), 17499240 (2) (see all 15)
(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane	86.90	10	10664833 (2), 10715354 (1), 8110440 (1), 14992979 (1) (see all 8)
2beta-carbomethoxy-3beta-(4-iodophenyl)tropane	73.91	6	8748670 (1), 9169564 (1), 15770240 (1), 15205968 (1) (see all 5)
tropane	73.70	12	15755646 (2), 16385509 (2), 11714608 (1), 11334561 (1) (see all 5)
(2-(trimethylammonium)ethyl)methanethiosulfonate	71.98	5	15728187 (1), 11408487 (1), 10655481 (1)
nisoxetine	70.29	3	11959795 (1), 16650830 (1)
carbon-11	65.36	8	15820756 (1), 15974579 (1), 16250668 (1), 17154506 (1) (see all 7)
vilazodone	62.76	1	15978574 (1)
diphenyl sulfide	61.84	2	16337793 (2)

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4 PharmGKB drug compound relationships for SLC6A4 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antidepressants	CO PD GN	12746735 15037864
fluvoxamine	PD	9857976 12082589
glucocorticoids	FA	12911615
xenobiotics	GN	11279528

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SLC6A4)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SLC6A4)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001045

Sigma-Aldrich siRNA and siRNA Panels for SLC6A4

Sigma-Aldrich shRNA for SLC6A4

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001045

REFSEQ mRNAs for SLC6A4 gene:

NM_001045.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001045

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001045
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001045
                                 untagged cDNA clone in CMV expression vector: NM_001045

Additional cDNA sequence:

AK308014.1 AK309538.1 AK313166.1 AY902473.1 BC069484.1 L05568.1 X70697.1

2 DOTS entries:

DT.207569 DT.100682832

15 AceView cDNA sequences:

L05568 NM_001045 BC069484 X70697 BQ017574 AU138385 BX360891 BU619456

BQ017027 BX399758 BX339773 AA700070 AA700086 BM990651 BX329107

highest scoring ESTs for SLC6A4:

AU138385 L05568 AA700070 AA700086 BC069484 BX339773 BX360891 BX399757 BX399758 NM_001045

Unigene Cluster for SLC6A4:

Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4

Hs.134662 [show with all ESTs]

Unigene Representative Sequence: NM_001045

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A4

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:

About this scheme

ECgene alternative splicing isoforms for SLC6A4

3 Ensembl transcripts including schematic representations:

ENST00000261707 ENST00000394821 ENST00000401766

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SLC6A4 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SLC6A4

¹ / ² / ³

8 probe-sets matching SLC6A4 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
53297_r_at²	U95-B	1	1.00	1.00	0.95	0.78	--	--	--	--	--
75016_at²	U95-E	1	1.00	1.00	0.95	1.05	--	--	--	--	--
34604_at²^{, 3}	U95-A	1	1.00	1.00	0.94	1.20	L05568	0.80	1.00	0.91	1
241811_x_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
207519_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001045	0.60	1.00	0.82	1
242009_at²	U133-B	2	1.00	0.95	--	--	--	--	--	--	--
207519_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
242009_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks SLC6A4 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.134662
Expression variation in blood from EXPOLDB for SLC6A4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SLC6A4 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SLC6A4¹	--	solute carrier family 6 (neurotransmitter transporter, more	90.44(n) 94.26(a)	491184 XM_548304.2 XP_548304.2
chimpanzee (Pan troglodytes)	SLC6A4¹	--	solute carrier family 6 (neurotransmitter transporter, more	99.26(n) 99.37(a)	468201 XM_001135146.1 XP_001135146.1
cow (Bos taurus)	SLC6A4¹	--	solute carrier family 6 (neurotransmitter transporter, more	89.74(n) 93.02(a)	282365 NM_174609.2 NP_777034.1
rat (Rattus norvegicus)	Slc6a4¹	--	solute carrier family 6 (neurotransmitter transporter, more	88.15(n) 91.75(a)	25553 NM_013034.2 NP_037166.2
mouse (Mus musculus)	Slc6a4⁵ Slc6a4¹	11 (42.00 cM)⁵	solute carrier family 6 (neurotransmitter transporter, more^{1, 5}	87.88(n)¹ 92.54(a)¹	15567¹ NM_010484.1¹ NP_034614.1¹ AF013604⁵ AI323329⁵ (see all 25)

About this table Species with no ortholog for SLC6A4

ENSEMBL Gene Tree for SLC6A4

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for SLC6A4 gene

SLC6A3² SLC6A2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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 located approximately 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]

10/377 NCBI SNPs in SLC6A4 are shown (see all 377 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 104)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1042173^1,2	A,C,F,H,O	25549137(-)	`ATATAT/GAATTT`	1	--	ut3¹ ese³		9		MN NA EU EA WA	1606
	rs6354^1,2	A,C,F,H,O	25574024(-)	`CCTCTA/CTTGCA`	1	--	ut5¹ ese³		11		MN NA EU EA WA	1686
	rs6355^1,2	C,F,H	25572936(-)	`TGCGGG/CAGATG`	1	A/G	mis¹ ese³		11		MN EU EA WA NA	1286
	rs6352^1,2	C,F,H	25554319(-)	`TTTAAA/CGAGGT`	1	K/N	mis¹ ese³		9		MN EU EA WA	1024
	rs3813034^1,2	C,F,H	25548930(+)	`TGTTAC/ATGTAA`	1	--	ng5¹		4		EU EA WA	412
--	rs2020932^1,2	A,C,F	25587625(-)	`aaaaaA/Tttttt`	1	--	ng3¹		1		NA	20
--	rs25533^1,2	C,F	25587018(-)	`CTCCCT/CGGCGA`	1	--	ng3¹		1		NA	20
--	rs956304^1,2	A,C	25587688(-)	`CCTCCA/GCCTCA`	1	--	ng3¹		0	--	--	--	--
--	rs25531^1,2	C,F	25588472(-)	`CCCCCA/GGCATC`	1	--	ng3¹		3		NA	218
	rs13306796^1,2	F,H	25549272(-)	`CCTGTA/GTCATT`	1	--	ut3¹ ese³		4		EU EA WA	420

About this table

HapMap Linkage Disequilibrium images for SLC6A4 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 182138 disorders: 607834 164230

10/92 Novoseek disease relationships for SLC6A4 gene (see all 92 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
major depression	78.59	178	10862800 (5), 10920459 (5), 18268503 (4), 16640648 (4) (see all 91)
mood disorders	75.93	114	11983185 (4), 19233297 (4), 9154246 (4), 9514579 (3) (see all 64)
obsessive-compulsive disorder	70.03	60	18354388 (3), 16139170 (2), 18186076 (2), 16112691 (2) (see all 30)
bipolar disorder	68.95	83	9514585 (4), 10490710 (4), 11772685 (3), 8723051 (3) (see all 42)
neuroticism	64.89	37	10405095 (4), 17336939 (4), 11443919 (3), 14992987 (2) (see all 22)
alcoholism	63.82	57	10064377 (3), 16288736 (2), 14574222 (2), 15635638 (2) (see all 37)
psychiatric disorder	62.32	59	12218657 (3), 7865169 (1), 8950411 (1), 9693389 (1) (see all 38)
anxiety disorders	57.35	18	11256582 (1), 12660809 (1), 18314311 (1), 10368856 (1) (see all 13)
attention-deficit hyperactivity disorder	55.60	8	14574222 (1), 17948872 (1), 12782968 (1), 16082690 (1) (see all 7)
autistic	54.66	36	10686565 (4), 15094787 (3), 12192626 (3), 11920155 (3) (see all 13)

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9 PharmGKB disease relationships for SLC6A4 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Alcoholism	GN	11857587
Anorexia Nervosa	CO GN	15211642
Autistic Disorder	GN	11920155 10490705 9152989
Bipolar Disorder	CO GN	12746735 10331118
Depression	PD	9857976 15037864
Mood Disorders	GN	10673766
Neurotic Disorders	GN	11857587
Sudden Infant Death	GN	12966525
obsessive compulsive disorder (OCD)	PD FA	12082589 9430134

About this table

Human Gene Mutation Database: SLC6A4
Genetic Association Database: SLC6A4
Human Genome Epidemiology Navigator: SLC6A4 (788 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

52/1607 PubMed articles for SLC6A4 gene (see all 1607 ):

Serotonin transporter regulatory region polymorphism is associated with anorexia nervosa. (PubMed id 15211642)^{1, 3, 6, 7} Matsushita S....Higuchi S. (2004)
Antidepressant-induced mania, rapid cycling and the serotonin transporter gene polymorphism. (PubMed id 12746735)^{1, 3, 6, 7} Rousseva A....Malafosse A. (2003)
Meta-analysis of the association of a functional serotonin transporter promoter polymorphism with alcohol dependence. (PubMed id 15635638)^{1, 3, 4, 6} Feinn R.... Kranzler H.R. (2005)
Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. (PubMed id 12869766)^{1, 3, 4, 6} Caspi A....Poulton R. (2003)
Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. (PubMed id 12966525)^{3, 6, 7} Weese-Mayer D.E....Marazita M.L. (2003)
Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder. (PubMed id 11920155)^{1, 3, 7} Kim S.J....Cook E.H. (2002)
Obsessive-Compulsive Disorder, 5-HTTLPR polymorphism and treatment response. (PubMed id 12082589)^{3, 6, 7} Di Bella D....Bellodi L. (2002)
Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. (PubMed id 11279528)^{3, 6, 7} Glatt C.E....Freimer N.B. (2001)
Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. (PubMed id 7681602)^{2, 3, 4} Ramamoorthy S.... Blakely R.D. (1993)
Central serotonin transporter availability measured with [123I]beta-CIT SPECT in relation to serotonin transporter genotype. (PubMed id 14992979)^{1, 3, 6} van Dyck C.H....Gelernter J. (2004)
Major psychiatric disorders and the serotonin transporter gene (SLC6A4): family-based association studies. (PubMed id 12218657)^{1, 3, 6} Dimitrova A....Kirov G. (2002)
Frontal and limbic metabolic differences in subjects selected according to genetic variation of the SLC6A4 gene polymorphism. (PubMed id 15850737)^{1, 3, 6} Graff-Guerrero A....Nicolini H. (2005)
[Association of the hSERT and SLC6A4 polymorphic markers of the serotonin transporter gene with schizophrenia in different ethnic groups] (PubMed id 12942632)^{1, 3, 6} Zainullina A.G....Khusnutdinova E.K. (2003)
Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism. (PubMed id 16395127)^{3, 6} Yonan A.L....Gilliam T.C. (2006)
AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance. (PubMed id 16205790)^{3, 6} Bachner-Melman R....Ebstein R.P. (2005)
The relationship of 5HTT (SLC6A4) methylation and genotype on mRNA expression and liability to major depression and alcohol dependence in subjects from the Iowa Adoption Studies. (PubMed id 17987668)^{1, 3} Philibert R.A....Madan A. (2008)
Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism. (PubMed id 15094787)^{1, 3} Coutinho A.M....Vicente A.M. (2004)
Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. (PubMed id 18937309)^{1, 3} Biederman J....Faraone S.V. (2008)
Polymorphisms in the SLC6A4 and HTR2A genes influence treatment outcome following antidepressant therapy. (PubMed id 18253134)^{1, 3} Wilkie M.J....Wolf C.R. (2008)
A large case-control study of common functional SLC6A4 and BDNF variants in obsessive-compulsive disorder. (PubMed id 17375136)^{1, 3} Wendland J.R....Murphy D.L. (2007)
No association of serotonin transporter gene (SLC6A4) with schizophrenia and bipolar disorder in Japanese patients: association analysis based on linkage disequilibrium. (PubMed id 16082508)^{1, 3} Ikeda M....Ozaki N. (2006)
Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features. (PubMed id 19268543)^{1, 3} Bergen S.E....Kendler K.S. (2009)
Role of variation in the serotonin transporter protein gene (SLC6A4) in trait disturbances in the ventral anterior cingulate in bipolar disorder. (PubMed id 19037205)^{1, 3} Shah M.P....Blumberg H.P. (2009)
A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder. (PubMed id 18055562)^{1, 3} Wendland J.R....Murphy D.L. (2008)
Polymorphism C in the serotonin transporter gene (SLC6A4) in questionable dementia and Alzheimer's disease. (PubMed id 18490109)^{1, 3} Seripa D....Pilotto A. (2008)
Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal. (PubMed id 18804097)^{1, 3} Guhathakurta S....Usha R. (2008)
Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. (PubMed id 17203304)^{1, 3} Coutinho A.M....Vicente A.M. (2007)
Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura. (PubMed id 17101915)^{1, 3} Todt U....Kubisch C. (2006)
Lack of evidence for association between the serotonin transporter gene (SLC6A4) polymorphisms and autism in the Chinese trios. (PubMed id 15882779)^{1, 3} Wu S....Zhang D. (2005)
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors. (PubMed id 15995945)^{1, 3} Sutcliffe J.S....Blakely R.D. (2005)
Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes. (PubMed id 10713891)^{1, 3} Shen S....Harmar A.J. (2000)
No causal role for the G482T and G689T polymorphisms in translation regulation of serotonin transporter (SLC6A4) or association with attention-deficit-hyperactivity disorder (ADHD). (PubMed id 19429092)³ Banerjee E....Nandagopal K. (2009)
Characterization of a Functional Polymorphism in the 3' UTR of SLC6A4 and its Association With Drinking Intensity. (PubMed id 19032574)³ Seneviratne C....Johnson B.A. (2008)
New Evidence for the Association of the Serotonin Transporter Gene (SLC6A4) Haplotypes, Threatening Life Events, and Depressive Phenotype. (PubMed id 18486105)³ Lazary J....Bagdy G. (2008)
Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR). (PubMed id 18663369)³ Strug L.J....Weissman M.M. (2008)
Evidence of biologic epistasis between BDNF and SLC6A4 and implications for depression. (PubMed id 18347599)³ Pezawas L....Weinberger D.R. (2008)
Contribution of the functional 5-HTTLPR variant of the SLC6A4 gene to obesity risk in male adults. (PubMed id 18239665)³ Sookoian S....Pirola C.J. (2008)
Infant serotonin transporter (SLC6A4) promoter genotype is associated with adverse neonatal outcomes after prenatal exposure to serotonin reuptake inhibitor medications. (PubMed id 17519929)³ Oberlander T.F....Simpson E.M. (2008)
A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders. (PubMed id 19360675)³ Sakurai T....Buxbaum J.D. (2008)
Effect of the selective serotonin reuptake inhibitor paroxetine on platelet function is modified by a SLC6A4 serotonin transporter polymorphism. (PubMed id 18983505)³ Abdelmalik N....Kamphuisen P.W. (2008)
SLC6A4 variation and citalopram response. (PubMed id 18618621)³ Mrazek D.A....Weinshilboum R.M. (2008)
Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population. (PubMed id 18792946)³ Alaerts M....Del-Favero J. (2008)
The 5-HTTLPR s/s genotype at the serotonin transporter gene (SLC6A4) increases the risk for depression in a large cohort of primary care attendees: the PREDICT-gene study. (PubMed id 17063469)³ Cervilla J.A....Gutierrez B. (2006)
Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531. (PubMed id 16402131)³ Wendland J.R....Murphy D.L. (2006)
Functional SLITRK1 var321, varCDfs and SLC6A4 G56A variants and susceptibility to obsessive-compulsive disorder. (PubMed id 16936762)³ Wendland J.R....Murphy D.L. (2006)
ITGB3 shows genetic and expression interaction with SLC6A4. (PubMed id 16721604)³ Weiss L.A....Cook E.H. (2006)
Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. (PubMed id 16616719)³ Ramoz N....Buxbaum J.D. (2006)
Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17. (PubMed id 7789954)³ Gelernter J....Kidd K.K. (1995)
Lack of linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and bipolar disorder. (PubMed id 10898918)¹ Mundo E....Kennedy J.L. (2000)
Bad nature, bad nurture, and testimony regarding MAOA and SLC6A4 genotyping at murder trials. (PubMed id 17944904)¹ Bernet W....Montgomery S.A. (2007)
Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. (PubMed id 15108191)¹ McCauley J.L....Sutcliffe J.S. (2004)
Functional polymorphism in the serotonin transporter promoter at the SLC6A4 locus and mood disorders. (PubMed id 9787878)¹ Ohara K....Ohara K. (1998)

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Entrez Gene: 6532	HGNC: 11050	AceView: SLC6A4	Ensembl:ENSG00000108576	euGenes: HUgn6532
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SLC6A4 Gene

protein-coding GIFtS: 69

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SLC6A4 Gene

protein-coding GIFtS: 69

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for SLC6A4

Genomic Location
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