Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6532
Gene name	Solute carrier family 6 member 4
Gene symbol	SLC6A4
Synonyms (NCBI Gene)	5-HTT5-HTTLPR5HTTHTTOCD1SERTSERT1hSERT
Chromosome	17
Chromosome location	17q11.2
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28914832	T>C,G	Risk-factor	Missense variant, coding sequence variant

198

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018862	hsa-miR-335-5p	Microarray	18185580
MIRT053620	hsa-miR-16-5p	qRT-PCRWestern blot	22940131
MIRT438132	hsa-miR-135a-5p	Luciferase reporter assay	24952960
MIRT438132	hsa-miR-135a-5p	Luciferase reporter assay	24952960
MIRT699293	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT699292	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT699291	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT699290	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT699289	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT699288	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT699287	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT699286	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT699285	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT699284	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT699283	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT699282	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT699281	hsa-miR-302e	HITS-CLIP	23313552
MIRT699280	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT699279	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT699278	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT699277	hsa-miR-520b	HITS-CLIP	23313552
MIRT699276	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT699275	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT699274	hsa-miR-520e	HITS-CLIP	23313552
MIRT699273	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT699272	hsa-miR-4418	HITS-CLIP	23313552
MIRT699271	hsa-miR-509-3-5p	HITS-CLIP	23313552
MIRT699270	hsa-miR-509-5p	HITS-CLIP	23313552
MIRT699269	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT699268	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT699267	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT699266	hsa-miR-520h	HITS-CLIP	23313552
MIRT699265	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT699264	hsa-miR-3934-5p	HITS-CLIP	23313552
MIRT699263	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT699262	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT699261	hsa-miR-3130-3p	HITS-CLIP	23313552
MIRT639481	hsa-miR-1184	HITS-CLIP	23313552
MIRT699260	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT699259	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT699258	hsa-miR-5702	HITS-CLIP	23313552
MIRT699257	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT699256	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT699255	hsa-miR-5095	HITS-CLIP	23313552
MIRT699254	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT699253	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT699252	hsa-miR-7156-3p	HITS-CLIP	23313552
MIRT699251	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT639490	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT639489	hsa-miR-1264	HITS-CLIP	23824327
MIRT639488	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT639487	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT639486	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT639484	hsa-miR-4287	HITS-CLIP	23824327
MIRT639483	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT639482	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT639481	hsa-miR-1184	HITS-CLIP	23824327
MIRT639480	hsa-miR-1205	HITS-CLIP	23824327
MIRT639479	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT639478	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT639477	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT639476	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT639475	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639474	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT639473	hsa-miR-544a	HITS-CLIP	23824327
MIRT639490	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT639489	hsa-miR-1264	HITS-CLIP	23824327
MIRT639488	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT639487	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT639486	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT639485	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639484	hsa-miR-4287	HITS-CLIP	23824327
MIRT639483	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT639482	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT639481	hsa-miR-1184	HITS-CLIP	23824327
MIRT639480	hsa-miR-1205	HITS-CLIP	23824327
MIRT639479	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT639478	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT639477	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT639476	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT639475	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639474	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT639473	hsa-miR-544a	HITS-CLIP	23824327
MIRT699293	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT699292	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT699291	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT699290	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT699289	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT699288	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT699287	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT699286	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT699285	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT699284	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT699283	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT699282	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT699281	hsa-miR-302e	HITS-CLIP	23313552
MIRT699280	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT699279	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT699278	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT699277	hsa-miR-520b	HITS-CLIP	23313552
MIRT699276	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT699275	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT699274	hsa-miR-520e	HITS-CLIP	23313552
MIRT699273	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT699272	hsa-miR-4418	HITS-CLIP	23313552
MIRT699271	hsa-miR-509-3-5p	HITS-CLIP	23313552
MIRT699270	hsa-miR-509-5p	HITS-CLIP	23313552
MIRT699269	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT699268	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT699267	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT699266	hsa-miR-520h	HITS-CLIP	23313552
MIRT699265	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT699264	hsa-miR-3934-5p	HITS-CLIP	23313552
MIRT699263	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT699262	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT699261	hsa-miR-3130-3p	HITS-CLIP	23313552
MIRT639481	hsa-miR-1184	HITS-CLIP	23313552
MIRT699260	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT699259	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT699258	hsa-miR-5702	HITS-CLIP	23313552
MIRT699257	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT699256	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT699255	hsa-miR-5095	HITS-CLIP	23313552
MIRT699254	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT699253	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT699252	hsa-miR-7156-3p	HITS-CLIP	23313552
MIRT699251	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT639490	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT639489	hsa-miR-1264	HITS-CLIP	23824327
MIRT639488	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT639487	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT639486	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT639484	hsa-miR-4287	HITS-CLIP	23824327
MIRT639483	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT639482	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT639481	hsa-miR-1184	HITS-CLIP	23824327
MIRT639480	hsa-miR-1205	HITS-CLIP	23824327
MIRT639479	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT639478	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT639477	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT639476	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT639475	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639474	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT639473	hsa-miR-544a	HITS-CLIP	23824327
MIRT639490	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT639489	hsa-miR-1264	HITS-CLIP	23824327
MIRT639488	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT639487	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT639486	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT639485	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT639484	hsa-miR-4287	HITS-CLIP	23824327
MIRT639483	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT639482	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT639481	hsa-miR-1184	HITS-CLIP	23824327
MIRT639480	hsa-miR-1205	HITS-CLIP	23824327
MIRT639479	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT639478	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT639477	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT639476	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT639475	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT639474	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT639473	hsa-miR-544a	HITS-CLIP	23824327
MIRT1366351	hsa-miR-141	CLIP-seq
MIRT1366352	hsa-miR-146a	CLIP-seq
MIRT1366353	hsa-miR-146b-5p	CLIP-seq
MIRT1366354	hsa-miR-200a	CLIP-seq
MIRT1366355	hsa-miR-27a	CLIP-seq
MIRT1366356	hsa-miR-27b	CLIP-seq
MIRT1366357	hsa-miR-3140-5p	CLIP-seq
MIRT1366358	hsa-miR-3190	CLIP-seq
MIRT1366359	hsa-miR-3616-5p	CLIP-seq
MIRT1366360	hsa-miR-3647-5p	CLIP-seq
MIRT1366361	hsa-miR-371b-5p	CLIP-seq
MIRT1366362	hsa-miR-3919	CLIP-seq
MIRT1366363	hsa-miR-3925-5p	CLIP-seq
MIRT1366364	hsa-miR-3938	CLIP-seq
MIRT1366365	hsa-miR-4698	CLIP-seq
MIRT1366366	hsa-miR-4729	CLIP-seq
MIRT1366367	hsa-miR-4762-3p	CLIP-seq
MIRT1366368	hsa-miR-4789-5p	CLIP-seq
MIRT1366369	hsa-miR-4795-5p	CLIP-seq
MIRT1366370	hsa-miR-4797-5p	CLIP-seq
MIRT1366371	hsa-miR-4799-5p	CLIP-seq
MIRT1366372	hsa-miR-499a-5p	CLIP-seq
MIRT1366373	hsa-miR-513a-3p	CLIP-seq
MIRT1366374	hsa-miR-513a-5p	CLIP-seq
MIRT1366375	hsa-miR-573	CLIP-seq
MIRT1366376	hsa-miR-579	CLIP-seq
MIRT2108742	hsa-miR-2110	CLIP-seq
MIRT2108743	hsa-miR-3153	CLIP-seq
MIRT2108744	hsa-miR-3173-3p	CLIP-seq
MIRT2108745	hsa-miR-4271	CLIP-seq
MIRT2108746	hsa-miR-4667-5p	CLIP-seq
MIRT2108747	hsa-miR-4695-5p	CLIP-seq
MIRT2108748	hsa-miR-4700-5p	CLIP-seq
MIRT2108749	hsa-miR-4725-3p	CLIP-seq
MIRT2332378	hsa-miR-4282	CLIP-seq
MIRT1366372	hsa-miR-499a-5p	CLIP-seq

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Transcription factor	Regulation	Reference
CTCF	Unknown	15229244;17360901;21309950;23765727
YBX1	Unknown	15229244;17360901;23765727

Show/Hide all (89)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0005178	Function	Integrin binding	IDA	18317590
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	ISS
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	ISS
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IBA
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IDA	8987735, 10407194, 17506858
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IEA
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	IMP	12869649
GO:0005335	Function	Serotonin:sodium:chloride symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	11343649, 12177201, 16870614, 16882008, 18317590
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12869649, 16870614, 17506858, 18317590
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0006837	Process	Serotonin transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0007584	Process	Response to nutrient	IEA
GO:0007613	Process	Memory	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	16024787
GO:0008504	Function	Monoamine transmembrane transporter activity	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IDA	17575980
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0012505	Component	Endomembrane system	IDA	17506858
GO:0012505	Component	Endomembrane system	IEA
GO:0014064	Process	Positive regulation of serotonin secretion	IEA
GO:0015297	Function	Antiporter activity	IDA	27756841
GO:0015297	Function	Antiporter activity	IEA
GO:0015844	Process	Monoamine transport	IDA	16024787
GO:0016020	Component	Membrane	IEA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0019811	Function	Cocaine binding	IEA
GO:0021941	Process	Negative regulation of cerebellar granule cell precursor proliferation	IEA
GO:0031402	Function	Sodium ion binding	IDA	34851672
GO:0032227	Process	Negative regulation of synaptic transmission, dopaminergic	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042310	Process	Vasoconstriction	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0045121	Component	Membrane raft	IDA	16870614
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0046621	Process	Negative regulation of organ growth	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0050998	Function	Nitric-oxide synthase binding	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0051378	Function	Serotonin binding	IBA
GO:0051378	Function	Serotonin binding	IDA	34851672
GO:0051610	Process	Serotonin uptake	IBA
GO:0051610	Process	Serotonin uptake	IDA	8987735, 16870614, 17506858, 18317590, 21730057, 27756841
GO:0051610	Process	Serotonin uptake	IEA
GO:0051610	Process	Serotonin uptake	IMP	7681602
GO:0051610	Process	Serotonin uptake	ISS
GO:0051610	Process	Serotonin uptake	TAS
GO:0051899	Process	Membrane depolarization	IEA
GO:0051899	Process	Membrane depolarization	ISS
GO:0060179	Process	Male mating behavior	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070527	Process	Platelet aggregation	IEA
GO:0070527	Process	Platelet aggregation	ISS
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071321	Process	Cellular response to cGMP	IEA
GO:0090067	Process	Regulation of thalamus size	IMP	18378990
GO:0098810	Process	Neurotransmitter reuptake	IEA
GO:0099154	Component	Serotonergic synapse	IEA
GO:1990708	Process	Conditioned place preference	IEA

MIM	HGNC	e!Ensembl
182138	11050	ENSG00000108576

P31645

Protein name

Sodium-dependent serotonin transporter (SERT) (5HT transporter) (5HTT) (Solute carrier family 6 member 4)

Protein function

Serotonin transporter that cotransports serotonin with one Na(+) ion in exchange for one K(+) ion and possibly one proton in an overall electroneutral transport cycle. Transports serotonin across the plasma membrane from the extracellular compar

PDB

5I6X , 5I6Z , 5I71 , 5I73 , 5I74 , 5I75 , 6AWN , 6AWO , 6AWP , 6AWQ , 6DZV , 6DZW , 6DZY , 6DZZ , 6VRH , 6VRK , 6VRL , 6W2B , 6W2C , 7LI6 , 7LI7 , 7LI8 , 7LI9 , 7LIA , 7LWD , 7MGW , 7TXT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03491	5HT_transport_N	24 → 64	Serotonin (5-HT) neurotransmitter transporter, N-terminus	Family
PF00209	SNF	79 → 600	Sodium:neurotransmitter symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in platelets (at protein level). {ECO:0000269|PubMed:17506858}.

Sequence

METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTR
HSIPATTTTLVAELHQGERETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLP
YTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIM
AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHSTSPAEEFYTRHVLQIH
RSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGA
TLPGAWRGVLFYLKPNWQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQD
ALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPAS
TFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVWAKRRERFVLAVVITCFFGSLVT
LTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWFWRIC
WVAISPLFLLFIICSFLMSPPQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIIT
PGTFKERIIKSITPETPTEIPCGDIRLNAV

Sequence length

630

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Serotonergic synapse		Serotonin clearance from the synaptic cleft

127

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Obsessive-compulsive disorder	Likely pathogenic	rs2143013401	RCV001731115

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Likely benign	rs774676466	RCV005357123
Behavior disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs28914832, rs748194758, rs7224199, rs3813034, rs886052778, rs199601052, rs200528841, rs138004662, rs140699, rs886052781, rs6354, rs886052782, rs199876421, rs56138846, rs200506079 View all (95 more)	RCV001127236 RCV000363428 RCV000322733 RCV000294147 RCV000302486 RCV000330802 RCV000318839 RCV000375737 RCV000344225 RCV000399781 RCV000297369 RCV000262129 RCV000265168 RCV000328708 RCV000330345 RCV000295126 RCV000396246 RCV000361824 RCV000363135 RCV000273270 RCV000366749 RCV000276934 RCV000332030 RCV000340920 RCV000309214 RCV000312442 RCV000277224 RCV000354609 RCV000322648 RCV000287842 RCV000267605 RCV000268993 RCV000383816 RCV000336047 RCV000282306 RCV000337645 RCV000401364 RCV000308551 RCV000372709 RCV000280167 RCV000283547 RCV000379097 RCV000287079 RCV000347790 RCV000369441 RCV000376107 RCV000389581 RCV000390263 RCV000400361 RCV000319575 RCV000379665 RCV001123171 RCV001123175 RCV001122884 RCV001123948 RCV001123949 RCV001123950 RCV001123951 RCV001123952 RCV001123953 RCV001123954 RCV001123955 RCV001126624 RCV001126625 RCV001126626 RCV001126627 RCV001126628 RCV001126629 RCV001126630 RCV001126631 RCV001127026 RCV001127027 RCV001127028 RCV001122995 RCV001122996 RCV001124062 RCV001124063 RCV001124064 RCV001126717 RCV001126718 RCV001126719 RCV001126720 RCV001127117 RCV001127118 RCV001123080 RCV001124163 RCV001124164 RCV001124165 RCV001124166 RCV001124167 RCV001126833 RCV001126834 RCV001126835 RCV001126836 RCV001126837 RCV001127233 RCV001127235 RCV001127237 RCV001123172 RCV001123174 RCV001124255 RCV001124256 RCV001124257 RCV001124258 RCV001124259 RCV001126929 RCV001126930 RCV001126931 RCV001126932 RCV001123272 RCV001123273 RCV001127234 RCV001123173
Obsessive-compulsive disorder, susceptibility to	Uncertain significance	rs28914832	RCV000013798
Ovarian serous cystadenocarcinoma	Likely benign	rs3813034	RCV005894596
Serotonin transporter activity, increased/decreased	Likely benign	rs774676466	RCV000013797
SLC6A4-related disorder	Likely benign; Uncertain significance	rs201149719, rs145183821, rs200343866, rs753478260, rs114814153, rs28914833	RCV003906792 RCV003934759 RCV003961505 RCV003924174 RCV003922364 RCV003906242

Show/Hide Text Mining Associations (233)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	23393559
Abdominal Pain	Associate	22457857, 23393559
Abnormalities Drug Induced	Associate	23630162
Accidental Injuries	Associate	30096132
Acute Coronary Syndrome	Associate	33582601
Adenocarcinoma of Lung	Associate	35571564, 35733175
Adenocarcinoma of Lung	Inhibit	37350390
Adjustment Disorders	Associate	25314020
Aggressive Periodontitis	Associate	18587210
Agoraphobia	Associate	25702797, 32911381
AIDS Associated Nephropathy	Associate	28743254
Alcohol Related Disorders	Associate	19490304, 26228411, 28295205
Alcoholism	Associate	11505018, 17987668, 20192950, 22460318, 22550993, 23145795, 24796636, 36106519
Alzheimer Disease	Associate	12003247, 21743130, 32255562, 9848084
Amnesia Retrograde	Associate	18614671
Androgen Insensitivity Syndrome	Associate	21423614
Anhedonia	Associate	22094432
Anorexia	Associate	34856753
Anorexia Nervosa	Associate	25785698, 31823595
Antisocial Personality Disorder	Associate	18075474, 20405199, 20677849, 20947778, 21399568, 22781862, 26990675
Anxiety	Associate	11857587, 12911615, 16055563, 17297267, 17299098, 17353910, 17504250, 18075474, 18587210, 18614671, 18925984, 18950748, 19126263, 19154632, 19209222 View all (59 more)
Anxiety	Stimulate	21547899
Anxiety Disorders	Associate	18266983, 19154632, 19541292, 19864286, 21105279, 23772677, 24119861, 25059547, 25140050, 25226553, 25497691, 26218602, 26467894, 27257942, 31727442, 32911381, 33849116 View all (2 more)
Apraxias	Associate	33526821, 39242534
Ataxia	Associate	21183371
Attention Deficit and Disruptive Behavior Disorders	Associate	18430257, 18614671, 22584505, 24033129, 26990675, 27191831, 30126429
Attention Deficit Disorder with Hyperactivity	Associate	11923911, 18430257, 19490304, 19858760, 20113357, 20398347, 20677849, 21207241, 21497794, 21778150, 22032950, 23123360, 24797917, 25602736, 26402385 View all (5 more)
Auditory Perceptual Disorders	Associate	25602736
Autism Spectrum Disorder	Associate	20020537, 21302342, 21538940, 22032950, 23123360, 26262902, 27178863, 28088648, 32899028, 36106519
Autistic Disorder	Associate	15995945, 16103890, 17203304, 17999363, 18361419, 18593506, 19588468, 21183371, 21302342, 26262902, 27140629, 32899028, 36106519
Binge Drinking	Associate	31931271
Bipolar Disorder	Associate	15849387, 17283287, 19037205, 19125390, 19224115, 22832526, 23931339, 24229495, 24411530, 25704032, 26218602, 26542422, 33574244, 33828235, 35328036, 38377518, 9848084 View all (2 more)
Bites and Stings	Associate	26402385
Borderline Personality Disorder	Associate	17823651, 18075474, 32033618
Brain Diseases	Associate	26509115
Brain Injuries Traumatic	Associate	23478049
Breast Neoplasms	Associate	27720787, 29090386, 36430579
Bulimia Nervosa	Associate	17511889
Burning Mouth Syndrome	Associate	16942951
Cancer Pain	Associate	32432768
Carcinoma Squamous Cell	Associate	37442189
Cardiomyopathy Dilated	Associate	36472833
Cardiomyopathy Hypertrophic	Associate	36657118
Cardiomyopathy Restrictive	Associate	18361419
Cardiovascular Diseases	Associate	20509052, 28267464
Central Nervous System Infections	Associate	17987668
Child Development Disorders Pervasive	Associate	30081968
Cholera	Inhibit	1714897
Choriocarcinoma	Associate	1714897, 8182048
Chronic Pain	Associate	21423614
Cluster Headache	Associate	25043824
Cognition Disorders	Associate	20455953, 21908796, 25644221
Colitis	Inhibit	17170025
Colitis Ulcerative	Associate	17170025, 32967429
Colorectal Neoplasms	Associate	22911682
Compulsive Personality Disorder	Associate	15995945, 21183371, 21450307, 34856753
Conduct Disorder	Associate	18430257, 20677849, 26990675
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Associate	22781862, 25422957
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19324793
Congenital Hereditary and Neonatal Diseases and Abnormalities	Stimulate	21854681
Constipation	Associate	15138209, 23393559
Corneal dystrophy Avellino type	Associate	28316463
Coronary Artery Disease	Associate	25861735
Coronary Disease	Associate	20509052
COVID 19	Associate	34341434, 35733175, 36114180
Crohn Disease	Associate	30394015, 34799637
Cutaneous Fistula	Associate	26990675
Cystitis Interstitial	Associate	30973927
Death	Associate	28921740, 36537264
Death Sudden	Associate	24053176
Delirium	Associate	11207425
Dementia	Associate	17766685, 19996755
Demyelinating Diseases	Associate	25704032
Depression Postpartum	Associate	24796636
Depressive Disorder	Associate	10555044, 11207425, 11505018, 16756688, 17283287, 17353910, 17728423, 18005940, 18587210, 18614671, 18801474, 18950748, 18981341, 19005081, 19014073 View all (75 more)
Depressive Disorder	Stimulate	21547899, 24620999
Depressive Disorder Major	Associate	17987668, 18075474, 18801474, 18950748, 19125390, 19288578, 19361959, 24341893, 24620999, 26561939, 27622490, 28638109, 29703883, 32879073, 32911381, 33764333 View all (1 more)
Dermatitis Atopic	Associate	26831833
Diabetes Gestational	Associate	25512553, 26921319, 28650965
Diabetes Mellitus	Inhibit	17355243
Diarrhea	Associate	15361494, 22457857, 23393559, 32439979
Diastrophic dysplasia	Associate	20526950
Disruptive Impulse Control and Conduct Disorders	Associate	19493540, 20677849, 21497794, 23123360, 24280015, 28295205, 28391138, 29090386, 31856211, 35328036
Diverticulitis	Inhibit	18491196
Dizziness	Associate	23112822
Drug Overdose	Associate	11207425
Drug Related Side Effects and Adverse Reactions	Associate	19204908, 22434222
Dysentery	Associate	21273531
Dysthymic Disorder	Associate	18826446
Epilepsy Frontal Lobe	Associate	19037205
Familial Primary Pulmonary Hypertension	Associate	16339917
Fatigue	Associate	23303061, 27720787
Fatigue Syndrome Chronic	Associate	26473596
Feeding and Eating Disorders	Associate	17299098, 17823651, 23303061, 31823595, 36678277
Fetal Growth Retardation	Inhibit	31176514
Fibromyalgia	Associate	10555044, 16790074, 19037919, 27448744
Fragile X Syndrome	Associate	40054504
Frontotemporal Dementia	Associate	26509115
Fructose Intolerance	Associate	27493135
Gastrointestinal Diseases	Associate	15138209, 21273531, 27493135
general anxiety disorder	Associate	17504250, 21105279, 25675343, 32293839
Heart Diseases	Associate	17283287, 20585760
Heart Septal Defects Ventricular	Associate	19886858
Heat Stroke	Associate	21423614
Hippocampal Sclerosis	Associate	36674637
HIV Infections	Associate	19853044
Hyperkinesis	Associate	23123360, 24797917, 32157156
Hypersensitivity Immediate	Associate	21497794
Hypertension	Inhibit	17506858
Hypertension	Associate	21206007, 28267464
Hypertension Pulmonary	Associate	11602621, 15059929, 16339917, 19556740
Hypertension Pulmonary	Inhibit	16002749
Hypochondriasis	Associate	19742166
Ichthyosis Bullosa of Siemens	Associate	19125330
Ichthyosis prematurity syndrome	Associate	30019487
Infections	Associate	34799637
Inflammation	Associate	17170025, 18491196, 18801474, 20303355, 22911682, 34799637
Inflammation	Inhibit	32967429
Inflammatory Bowel Diseases	Stimulate	19487253
Insulin Resistance	Associate	25512553
Intellectual Disability	Associate	20175892, 24411530
Internal Hernia	Associate	25422957, 30081968
Intestinal Diseases	Associate	19587001, 21273531
Intestinal Pseudo Obstruction	Associate	38302874
Irritable Bowel Syndrome	Associate	15361494, 17170025, 18511740, 19125330, 19309415, 22014438, 22457857, 22855291, 23393559, 24392134, 26912503, 28458330, 34165249
Irritable Bowel Syndrome	Inhibit	20303355, 22323131, 26744473
Left Right Axis Malformations	Associate	18005940
Leigh Disease	Associate	17702275
Leukemia Lymphocytic Chronic B Cell	Associate	29196338, 32439979
Lung Neoplasms	Associate	32432768
Lupus Erythematosus Systemic	Associate	27819008, 38297395
Lupus Vasculitis Central Nervous System	Associate	38297395
Major Affective Disorder 2	Associate	15849387, 17360901
Marijuana Abuse	Associate	23217578
Medically Unexplained Symptoms	Associate	15138209
Memory Disorders	Associate	16893493, 17353910, 23266326, 24341893, 26013962, 26393485
Mental Disorders	Associate	11505018, 12890309, 17360901, 17702275, 17987668, 18005940, 18826446, 18981341, 19126263, 19361959, 19541292, 20192950, 21282783, 21450307, 21507249 View all (20 more)
Migraine Disorders	Associate	16362658, 17563839, 21206007
Migraine with Aura	Associate	16362658
Migraine without Aura	Associate	21206007
Mood Disorders	Associate	10405095, 11505018, 15849387, 16756688, 16893493, 19154632, 19281802, 19864286, 20526950, 20585760, 22148994, 22420614, 22832526, 23034517, 23266326 View all (8 more)
Mood Disorders	Stimulate	21547899
Mouth Diseases	Associate	11602621
Movement Disorders	Associate	23630162
Muscle Hypotonia	Associate	21183371
Myocardial Infarction	Associate	28267464
Neglected Diseases	Associate	21908796, 26542422
Neointima	Associate	24074042
Neoplasms	Associate	32293332
Neoplasms Adipose Tissue	Associate	30622309
Neuroblastoma	Associate	23931339
Neurodegenerative Diseases	Associate	31133468
Neurofibromatosis Noonan syndrome	Associate	20606244
Neurologic Manifestations	Associate	23123360
Neurotic Disorders	Associate	9413883
Norrie disease	Inhibit	19853044
Obesity	Associate	17124363, 17299098, 18239665, 22290534, 24138674, 26111525, 28675387
Obesity	Stimulate	26381270
Obsessive Compulsive Disorder	Associate	11602033, 15886722, 16055563, 19742166, 19806148, 20585760, 21232166, 21245616, 21625751, 22727904, 23630162, 32911381, 33445578, 33764333, 34866045, 36641432 View all (1 more)
Osteoporosis	Associate	21483275
Ovarian Diseases	Associate	16815388
Overweight	Associate	17299098, 18239665
Pain	Associate	16623937, 18511740, 19309415, 21423614, 24950698, 27043930, 27448744, 33882731, 33980291
Pain Postoperative	Associate	33882731
Panic Disorder	Associate	15670397, 18663369, 20817074, 23717480, 27134498, 28391138, 32723321, 32911381, 9413883
Panic Disorder	Stimulate	32723321
Paratuberculosis	Inhibit	34799637
Parkinson Disease	Associate	21450307
Pathophobia	Associate	18925984, 22832813, 23717480, 26643280
Pediatric acute onset neuropsychiatric syndrome	Associate	22139575
Persistent Fetal Circulation Syndrome	Associate	28316463
Personality Disorders	Associate	11505018, 12003247, 18826446, 21399568, 21450307, 24438559, 27062586, 31856211, 35396540
Phobia Social	Associate	18663369, 25003950, 25675343, 26385612, 32911381, 34856753
Phobic Disorders	Associate	28391138
Pleoconial Myopathy with Salt Craving	Associate	11207425, 22505321
Premature Birth	Associate	29304146
Premature Ejaculation	Associate	19252508, 25518026, 27311544, 27713390, 30019487
Premenstrual Dysphoric Disorder	Associate	20440524
Prenatal Exposure Delayed Effects	Associate	35364108
Pressure Ulcer	Associate	28267464
Psychological Trauma	Associate	22032950, 34856753
Psychotic Disorders	Associate	19268543, 19361959, 19996755, 21908796
Pulmonary Arterial Hypertension	Associate	16339917, 19141529, 19886858
Pulmonary Disease Chronic Obstructive	Associate	16339917, 19556740, 22319639
Pyridoxamine 5 Prime Phosphate Oxidase Deficiency	Associate	32255562
Pyruvate Carboxylase Deficiency Disease	Associate	17999363
Rectal Diseases	Inhibit	22323131
Renal Artery Obstruction	Associate	11602621
Reproductive Tract Infections	Associate	40416692
Respiratory Distress Syndrome	Associate	10555044
Sarcoma Kaposi	Associate	36472833
Schizophrenia	Associate	19361959, 22032950, 24411530, 28391138, 33574244, 36641432
Schizotypal Personality Disorder	Associate	18075474
Severe Acute Respiratory Syndrome	Associate	25655492
Sex Chromosome Disorders of Sex Development	Associate	20947778
Sexual Dysfunction Physiological	Associate	19204908
Sexual Dysfunctions Psychological	Associate	24280015
Sexual Infantilism	Associate	19204908
Sexual Trauma	Associate	17504250
Signs and Symptoms	Associate	21661000, 24033129
Skin Diseases Eczematous	Associate	17721644
Sleep Apnea Obstructive	Associate	19014073, 23754303
Sleep Apnea Syndromes	Associate	19014073
Sleep Initiation and Maintenance Disorders	Associate	20337192, 23303061, 30948693, 31237183
Sleep Wake Disorders	Associate	17766685, 25644221, 30948693, 31237183
Smooth Muscle Tumor	Associate	11602621
Speech Disorders	Associate	16893493
Spinal Cord Injuries	Stimulate	37803037
Spondylometaepiphyseal Dysplasia Short Limb Hand Type	Associate	27622490
Stiff Person Syndrome	Associate	18925984
Stomach Neoplasms	Associate	33882731
Stress Disorders Post Traumatic	Associate	21608084, 21855859, 22693124, 23407816, 25314020, 25702797, 30948693, 31727442, 33764333, 37692110
Stroke	Associate	18981341, 21847802, 33526821, 33923526
Substance Related Disorders	Associate	19209222, 20455953, 22046120, 22505321, 22693124, 23479192, 26542422, 32911381
Substance Related Disorders	Inhibit	19288578
Sudden Infant Death	Associate	24053176
Syncope	Associate	30636478
Syndrome	Associate	17823651
Tension Type Headache	Associate	18688140, 27257942
Thyroid Hormone Resistance Generalized Autosomal Dominant	Associate	24033129
Tics	Associate	26402385
Tn Syndrome	Associate	24950698
Tobacco Use Disorder	Associate	26111525
Tomaculous neuropathy	Associate	33764333
Tooth Loss	Associate	24280015
Tourette Syndrome	Associate	23630162, 33445578
Trauma and Stressor Related Disorders	Associate	12911615
Trigeminal Neuralgia	Associate	24950698
Uterine Inertia	Associate	35246765
Vascular Diseases	Associate	16002749
Weight Gain	Associate	24138674, 30622309
Weight Loss	Associate	18725220
Wounds and Injuries	Associate	20817074, 21908796, 26542422, 31856211, 32879073

SLC6A4 (solute carrier family 6 member 4)