Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
1
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.
198
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CTCF Unknown 15229244;17360901;21309950;23765727
YBX1 Unknown 15229244;17360901;23765727
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182138 11050 ENSG00000108576
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
53
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Obsessive-compulsive disorder Likely pathogenic rs2143013401 RCV001731115
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANHEDONIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 9536080
★☆☆☆☆
Found in Text Mining only
Affective Disorders, Psychotic Affective Psychosis PSYGENET_DG 18264772, 20031235
★☆☆☆☆
Found in Text Mining only
Affective Disorders, Psychotic Affective Psychosis BEFREE 20031235, 28029428
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 18661256, 18686203
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 18587210
★☆☆☆☆
Found in Text Mining only
Agoraphobia Agoraphobia BEFREE 24906789
★☆☆☆☆
Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant Of Huntington Disease CTD_human_DG 15218539, 15312898, 16137562, 17018277, 17925440, 18831068, 19094060, 19476553, 20929960, 21867705, 28111121
★☆☆☆☆
Found in Text Mining only
Alagille Syndrome Alagille Syndrome BEFREE 20002020
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 31187915
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12003247, 21743130, 32255562, 9848084 Associate
★☆☆☆☆
Found in Text Mining only