Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6532
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 6 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC6A4
Synonyms (NCBI Gene) Gene synonyms aliases
5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT, SERT1, hSERT
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28914832 T>C,G Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018862 hsa-miR-335-5p Microarray 18185580
MIRT053620 hsa-miR-16-5p qRT-PCR, Western 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
Transcription factors
Transcription factor Regulation Reference
CTCF Unknown 15229244;17360901;21309950;23765727
YBX1 Unknown 15229244;17360901;23765727
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0005326 Function Neurotransmitter transmembrane transporter activity ISS
GO:0005335 Function Serotonin:sodium symporter activity IBA 21873635
GO:0005335 Function Serotonin:sodium symporter activity IDA 8987735
GO:0005335 Function Serotonin:sodium symporter activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182138 11050 ENSG00000108576
Protein
UniProt ID 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
Sequence length 630
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Synaptic vesicle cycle
Serotonergic synapse
  Serotonin clearance from the synaptic cleft
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
16721604, 17203304, 20649385, 17280648, 9152989
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
18583979
Unknown
Disease term Disease name Evidence References Source
Mental depression Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Postpartum, Recurrent depression, Depression, Neurotic, Chronic depression, Severe depression, Major Depressive Disorder 25583186, 23588187, 25422957, 25510949, 24972302, 21843009, 18686203, 12898347, 18458677, 25650523, 24679990, 25226554, 23394411, 21997575, 22209125
View all (11 more)
ClinVar
Autism Spectrum Disorder autism spectrum disorder GenCC
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
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