Aliases for SLC6A2 Gene
External Ids for SLC6A2 Gene
Previous HGNC Symbols for SLC6A2 Gene
Previous GeneCards Identifiers for SLC6A2 Gene
This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
GeneCards Summary for SLC6A2 Gene
SLC6A2 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC6A2 include orthostatic intolerance and generalized anxiety disorder. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include monoamine transmembrane transporter activity and norepinephrine:sodium symporter activity. An important paralog of this gene is SLC6A4.
UniProtKB/Swiss-Prot for SLC6A2 Gene
Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals
Adrenergic transporters (NET) are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) widely distributed throughout the brain within noradrenergic neuronal plasma membranes. They are responsible for the re-uptake of adrenalin, noradrenalin and (to a lesser extent) dopamine from the synaptic cleft back into vesicles for storage until later use, resulting in the termination of neurotransmitter action. Adrenergic transporters contain the following structural motifs: 12-TM domains, extracellular loops, cytoplasmic C- and N-termini and putative phosphorylation sites. A role for NETs has been proposed in attention deficit disorder, substance abuse, neurodegenerative disorders and clinical depression.