Gene table of SLC6A3 : solute carrier family 6 member 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC6A3	OMIM link	Number of associated genes	genes
613135	PARKINSONISM-DYSTONIA, INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC6A3
188890	TOBACCO ADDICTION, SUSCEPTIBILITY TO	OMIM	link to OMIM	4	SLC6A3, CYP2A6, GABBR2, CHRNA4

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Annotation of the gene SLC6A3

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Q01959

Associated PDB IDs

Cytogenetic Band

5p15.33

Tandem repeats annotation

The gene is in the tandem Group 235, together with the genes:

SLC6A19

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

NR4A2

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Dopaminergic synapse	hsa04728	5.69
Cocaine addiction	hsa05030	7.07
Amphetamine addiction	hsa05031	6.62
Alcoholism	hsa05034	5.59
Parkinson's disease	hsa05012	5.59

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transmembrane transport of small molecules	R-HSA-382551	3.79
Na+/Cl- dependent neurotransmitter transporters	R-HSA-442660	8.73
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Dopamine clearance from the synaptic cleft	R-HSA-379401	11.4
Neuronal System	R-HSA-112316	4.82
Transmission across Chemical Synapses	R-HSA-112315	5.28
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	R-HSA-425366	6.34
Neurotransmitter Clearance In The Synaptic Cleft	R-HSA-112311	9.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
neurotransmitter:sodium symporter activity	GO:0005328	6.79
dopamine transmembrane transporter activity	GO:0005329	8.13
neurotransmitter transporter activity	GO:0005326	6.52
enzyme binding	GO:0019899	2.27
drug binding	GO:0008144	5.03
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
cation binding	GO:0043169	1.4
sodium ion transmembrane transporter activity	GO:0015081	4.83
monoamine transmembrane transporter activity	GO:0008504	7.54
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
solute:sodium symporter activity	GO:0015370	5.83
protease binding	GO:0002020	5.08
protein complex binding	GO:0032403	3.09
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
active transmembrane transporter activity	GO:0022804	3.85
solute:cation symporter activity	GO:0015294	5.15
dopamine:sodium symporter activity	GO:0005330	9.05
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
protein phosphatase binding	GO:0019903	4.93
phosphatase binding	GO:0019902	4.63
substrate-specific transmembrane transporter activity	GO:0022891	2.9
protein phosphatase 2A binding	GO:0051721	6.41
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
protein N-terminus binding	GO:0047485	5.11
catecholamine binding	GO:1901338	6.97
ion transmembrane transporter activity	GO:0015075	3.04
organic hydroxy compound transmembrane transporter activity	GO:1901618	6.02
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
dopamine binding	GO:0035240	7.34
receptor binding	GO:0005102	2.43