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 Member 2) is a Protein Coding gene. Diseases associated with SLC6A2 include Orthostatic Intolerance and Syncope. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Sympathetic Nerve Pathway (Neuroeffector Junction). Gene Ontology (GO) annotations related to this gene include beta-tubulin binding and neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A3.
UniProtKB/Swiss-Prot Summary 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 re-uptake of adrenalin and noradrenalin.