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MGP002866

UniProt Annotations

Entry Information
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 2
Protein EntrySC6A2_HUMAN
UniProt IDP23975
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P23975-1; Sequence=Displayed; Name=2; IsoId=P23975-2; Sequence=VSP_044479; Name=3; IsoId=P23975-3; Sequence=VSP_054119;
DiseaseOrthostatic intolerance (OI) [MIM:604715]: Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO:0000269|PubMed:10684912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAmine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals.
MiscellaneousThis protein is the target of psychomotor stimulants such as amphetamines or cocaine.
SimilarityBelongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitInteracts with PRKCABP. {ECO:0000269|PubMed:11343649}.
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