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SLC6A4 (solute carrier family 6 member 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6532
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 6 member 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC6A4
SynonymsGene synonyms aliases
5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT, SERT1, hSERT
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28914832 T>C,G Risk-factor Missense variant, coding sequence variant
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 630
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Synaptic vesicle cycle
Serotonergic synapse
  Serotonin clearance from the synaptic cleft
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 16721604, 17203304, 20649385, 17280648, 9152989
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 18583979
Unknown
Disease name Disease term dbSNP ID References
Affective psychosis Affective Disorders, Psychotic 18264772, 20031235
Anhedonia Anhedonia 22094432, 18690111
Anxiety disorder Anxiety, Anxiety Disorders, Anxiety States, Neurotic 17101915, 15642926, 18686203
As if personality As If Personality 17000009

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