SLC6A2

Chr 16

solute carrier family 6 member 2

Also known as: NAT1, NET, NET1, SLC6A5

NCBI Gene: 6530 ENSG00000103546 UniProt: P23975

This gene encodes the norepinephrine transporter, which mediates sodium- and chloride-dependent reuptake of norepinephrine from synaptic clefts and regulates norepinephrine homeostasis in the sympathetic nervous system. Mutations cause autosomal dominant orthostatic intolerance characterized by lightheadedness, fatigue, altered mentation, and syncope. The gene is highly constrained against loss-of-function variants (LOEUF 0.476), suggesting that complete loss of transporter function is likely incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOrthostatic intolerance

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429