SLC6A2

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]

Full Name

Solute Carrier Family 6 Member 2

Function

Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (PubMed:2008212, PubMed:8125921).
Can also mediate sodium- and chloride-dependent transport of dopamine (PubMed:8125921, PubMed:11093780).

Biological Process

Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process dopamine uptake involved in synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process monoamine transportManual Assertion Based On ExperimentIDA:MGI
Biological Process neuron cellular homeostasisManual Assertion Based On ExperimentTAS:ARUK-UCL
Biological Process neurotransmitter transportISS:ARUK-UCL
Biological Process norepinephrine transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process norepinephrine uptakeISS:ARUK-UCL
Biological Process response to painIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane

Involvement in disease

Orthostatic intolerance (OI):
Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high.