SLC6A4 (solute carrier family 6 member 4)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6532 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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SLC6A4 |
SynonymsGene synonyms aliases
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5-HTT, 5-HTTLPR, 5HTT, HTT, OCD1, SERT, SERT1, hSERT |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28914832 |
T>C,G |
Risk-factor |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Affective psychosis |
Affective Disorders, Psychotic |
|
18264772, 20031235 |
Anhedonia |
Anhedonia |
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22094432, 18690111 |
Anxiety disorder |
Anxiety, Anxiety Disorders, Anxiety States, Neurotic |
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17101915, 15642926, 18686203 |
As if personality |
As If Personality |
|
17000009 |
Asperger syndrome |
Asperger Syndrome |
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18197083 |
Bipolar disorder |
Bipolar Disorder, Depression, Bipolar |
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16395126, 23931339, 25019689, 25194461, 11772685, 24229495, 25219494, 11386982, 10898918, 16395126, 11772685 |
Cognitive disorder |
Cognition Disorders |
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23209555 |
Compulsive hoarding |
Compulsive hoarding |
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Dysthymic disorder |
Dysthymic Disorder |
|
15312818 |
Impulse-ridden personality |
Impulse-Ridden Personality |
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17000009 |
Inadequate personality |
Inadequate Personality |
|
17000009 |
Involutional depression |
Involutional Depression |
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16055263 |
Involutional paraphrenia |
Involutional paraphrenia |
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16055263 |
Manic disorder |
Manic, Manic Disorder |
|
16395126, 11772685 |
Melancholia |
Melancholia |
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14593433, 18050262, 21843009, 18686203, 12898347, 18458677, 22247094, 20588071, 9799087 |
Memory disorders |
Memory Disorders |
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18686203, 18661256 |
Age-related memory disorders |
Age-Related Memory Disorders |
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18661256, 18686203 |
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 |
rs587778876, rs587778877 |
25583186, 23588187, 25422957, 25510949, 24972302, 21843009, 18686203, 12898347, 18458677, 12898347, 25422957, 18686203, 21843009, 25583186, 25510949, 24972302, 18458677, 23588187, 18686203, 25650523, 25510949, 24679990, 24972302, 18458677, 12898347, 21843009, 25226554, 18458677, 12898347, 21843009, 18686203, 23394411, 21997575, 22209125, 24882202, 23149286, 22100130, 22840631, 19541292, 21843009, 12898347, 18458677, 18686203, 24338983, 24323294, 21165304, 22847957, 19567893, 25226554, 25510949, 24972302, 24679990, 16055263, 25650523 |
Mood disorder |
Dysphoric mood, Mood Disorders |
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17079080, 20462563, 22309725, 19878141, 25547397, 24862560, 25596490, 24972302, 24438559 |
Obsessive-compulsive disorder |
Obsessive-Compulsive Disorder |
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17101915, 18197083 |
Personality disorders |
Personality Disorders |
|
17000009 |
Psychosis |
Psychosis, Involutional |
|
16055263 |
Seasonal affective disorder |
Seasonal Affective Disorder |
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23475832, 24260145, 18663369, 24407753, 17882235 |
Skin-picking |
Skin-picking |
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