Gene Report

Basic Info

Approved Symbol	SLC6A4
Previous Symbol	"HTT\|OCD1"
Symbol Alias	"5-HTT\|SERT1"
Approved Name	solute carrier family 6 (neurotransmitter transporter), member 4
Previous Name	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4\|5-hydroxytryptamine (serotonin) transporter\|obsessive-compulsive disorder 1"
Name Alias	serotonin transporter 1
Location	17q11.2
Position	chr17:30194319-30236002, -1
External Links	HGNC: 11050 Entrez Gene: 6532 Ensembl: ENSG00000108576 UCSC: uc002hey.5
No. of Association Results	44 (Positive: 13; Negative: 31; trend: 0)
Annotation Type	Literature-origin, Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

Gene related association results

Normal genetic study related association results (count: 44)

Reference	Phenotype	Marker	Gene's Category
Kovacic Petrovic, Z.,2016	PTSD severity	5-HTTLPR	Non-significant
Zhao, L. S.,2012	PTSD	5-HTT_intron 2_VNTR	Significant
Thakur, G. A., 2009	Acute PTSD	5-HTTLPR	Non-significant
Walsh, K.,2014	Arousal symptoms	5-HTTLPR	Non-significant
Walsh, K.,2014	Avoidance symptoms	5-HTTLPR	Non-significant
Wang, Z.,2011	CAPS score	5-HTTLPR	Significant
Thakur, G. A., 2009	Chronic PTSD	5-HTTLPR	Non-significant
Koenen, K. C.,2009	Current diagnosis of PTSD	5-HTTLPR	Non-significant
Liu, Y.,2015	Current diagnosis of PTSD	5-HTTLPR	Significant
Xie, P.,2009	Lifetime PTSD	5-HTTLPR	Non-significant
Kolassa, I. T.,2010	Lifetime PTSD	5-HTTLPR	Significant
Xie, P.,2012	Lifetime PTSD	5-HTTLPR	Non-significant
Walsh, K.,2014	Numbing symptoms	5-HTTLPR	Non-significant
Kimbrel, N. A.,2015	PCL-M scores	5-HTTLPR	Significant
Dunn, E. C.,2014	Post Traumatic Growth (PTG)	5-HTTLPR	Non-significant
Kilpatrick, D. G.,2007	Post-hurricane PTSD	5-HTTLPR	Non-significant
Mercer, K. B.,2012	Postshooting PTSD symptoms score (delta DEQ >1 month)	5-HTTLPR ; 5-HTTLPR multimarker ; STin2 ; rs25531	Non-significant
Holman, E. A.,2011	Posttraumatic stress (PTS) symptoms 2 years after 9/11	5-HTTLPR	Non-significant
Holman, E. A.,2011	Posttraumatic stress (PTS) symptoms 3 years after 9/11	5-HTTLPR	Non-significant
Dunn, E. C.,2014	Post-traumatic stress symptoms (PTS)	5-HTTLPR	Non-significant
Mellman, T. A.,2009	PTSD	5-HTTLPR	Non-significant
Navarro-Mateu, F.,2013	PTSD	5-HTTLPR	Non-significant
Gressier, F.,2013	PTSD	5-HTTLPR	Non-significant
Tian, Y.,2015	PTSD	5-HTTLPR ; 5-HTTVNTR	Significant
Telch, M. J.,2015	PTSD	5-HTTLPR	Non-significant
Valente, N. L.,2011	PTSD	5-HTTLPR	Non-significant
Grabe, H. J.,2009	PTSD category B symptom score	5-HTTLPR	Non-significant
Grabe, H. J.,2009	PTSD category C symptom score	5-HTTLPR	Non-significant
Grabe, H. J.,2009	PTSD category D symptom score	5-HTTLPR	Non-significant
Grabe, H. J.,2009	PTSD diagnosis	5-HTTLPR	Significant
Pietrzak, R. H.,2013	PTSD diagnosis	5-HTTLPR	Non-significant
Wang, Z.,2011	PTSD severity	5-HTTLPR	Significant
Walsh, K.,2014	PTSD severity	5-HTTLPR	Significant
Wang, Z.,2011	PTSD status	5-HTTLPR	Significant
La Greca, A. M.,2013	PTSD symptoms	5-HTTLPR	Non-significant
Goenjian, A. K.,2012	PTSD-RI (PTSD symptoms)	5-HTTLPR	Non-significant
Olsson, A.,2015	PTSS scores	5-HTTLPR	Significant
Kimbrel, N. A.,2015	QOLS scores	5-HTTLPR	Significant
Walsh, K.,2014	Reexperiencing symptoms	5-HTTLPR	Non-significant
Pietrzak, R. H.,2013	Severity of PTSD symptoms	5-HTTLPR	Non-significant
Lee, H. J.,2005	PTSD diagnosis	SERTPR	Significant
Nievergelt, C. M.,2015	PTSD	rs28914827	Non-significant
Solovieff, N.,2014	PTSD diagnosis	rs12939390	Non-significant
Solovieff, N.,2014	PTSD severity	rs12939390	Non-significant

G*E study related association result (count: 1)

Reference	Phenotype	Environment	Marker	Gene's Category
Pietrzak, R. H.,2013	Anxious arousal symptoms	High exposure	5-HTTLPR ; 5-HTTLPR multimarker ; rs25531 ; STin2 ; rs28914827 ; 5-HTTVNTR	Significant

Gene functional annotation

Gene related GO terms (count: 47)

ID	Name	Type	Evidence[PMID]	No. of Genes in PTSDgene
GO:0046621	negative regulation of organ growth	biological process	ISS	2
GO:0051015	actin filament binding	molecular function	ISS	2
GO:0046872	metal ion binding	molecular function	IEA	20
GO:0098793	presynapse	cellular component	IDA[8987735\|16870614\|17506858\|18227069\|19270731]; IEA; IMP[7681602]	3
GO:0045787	positive regulation of cell cycle	biological process	IEA	1
GO:0019811	cocaine binding	molecular function	IEA	1
GO:0021941	negative regulation of cerebellar granule cell precursor proliferation	biological process	IEA	1
GO:0008504	monoamine transmembrane transporter activity	molecular function	IDA[16024787]	4
GO:0017137	Rab GTPase binding	molecular function	IPI[18227069]	4
GO:0071321	cellular response to cGMP	biological process	IEA	1
GO:0043005	neuron projection	cellular component	IBA	17
GO:0042493	response to drug	biological process	IEA	25
GO:0048854	brain morphogenesis	biological process	ISS	1
GO:0005886	plasma membrane	cellular component	IDA[16870614\|17506858\|18227069\|19270731]	99
GO:0042713	sperm ejaculation	biological process	IEA	2
GO:0009636	response to toxic substance	biological process	IDA[17575980]	10
GO:0045121	membrane raft	cellular component	IDA[16870614]	7
GO:0007623	circadian rhythm	biological process	IEA	5
GO:0050998	nitric-oxide synthase binding	molecular function	IEA	3
GO:0045665	negative regulation of neuron differentiation	biological process	IEA	2
GO:0032355	response to estradiol	biological process	IEA	9
GO:0007584	response to nutrient	biological process	IEA	5
GO:0042310	vasoconstriction	biological process	IEA	2
GO:0021794	thalamus development	biological process	IMP[18378990]	1
GO:0007613	memory	biological process	IEA	11
GO:0005515	protein binding	molecular function	IPI[11343649\|12177201\|16870614\|16882008\|19270731]	169
GO:0006837	serotonin transport	biological process	IDA[19270731]	2
GO:0007268	synaptic transmission	biological process	IBA	32
GO:0001666	response to hypoxia	biological process	IEA	13
GO:0042803	protein homodimerization activity	molecular function	IEA	18
GO:0005887	integral component of plasma membrane	cellular component	IBA; IC[19270731]	36
GO:0005335	serotonin:sodium symporter activity	molecular function	IDA[8987735]; IMP[19270731]	1
GO:0015844	monoamine transport	biological process	IDA[16024787]	4
GO:0051610	serotonin uptake	biological process	IDA[8987735\|16870614\|17506858\|18227069\|19270731]; IMP[7681602]	1
GO:0071300	cellular response to retinoic acid	biological process	IEA	2
GO:0010008	endosome membrane	cellular component	IEA	6
GO:0035176	social behavior	biological process	ISS	9
GO:0017022	myosin binding	molecular function	IEA	2
GO:0015222	serotonin transmembrane transporter activity	molecular function	IDA[8987735]; IMP[19270731]	2
GO:0032227	negative regulation of synaptic transmission, dopaminergic	biological process	IEA	1
GO:0010628	positive regulation of gene expression	biological process	IEA	14
GO:0012505	endomembrane system	cellular component	IDA[17506858\|18227069]	2
GO:0017075	syntaxin-1 binding	molecular function	IEA	1
GO:0055085	transmembrane transport	biological process	IEA	14
GO:0051260	protein homooligomerization	biological process	IEA	3
GO:0051259	protein oligomerization	biological process	ISS	2
GO:0005829	cytosol	cellular component	IDA[19270731]	78

Gene related KEGG pathways (count: 0)

Gene related interactors from protein-protein interactions data in PINA v2 (count: 5)

Gene	Interactor	Interactor in PTSDgene?	Experiment Method	Interaction Type	PMID
SLC6A4	YBX1	No	--	--	15229244
SLC6A4	PICK1	No	--	--	11343649 , 11343649 , 11343649
SLC6A4	SNCA	No	--	colocalization	16882008 , 19429025 , 16882008 , 16882008 , 19429025
SLC6A4	STX1A	No	--	--	12175857 , 12175857
SLC6A4	GPM6B	No	--	--	18581270