Solute Carrier Family 6 (Neurotransmitter Transporter, Noradrenaline), Member 2

Alternative Names

  • SLC6A2
  • Neurotransmitter Transporter, Noradrenaline
  • NAT1
  • Norepinephrine Transporter Protein 1
  • NET
  • NET1
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OMIM Number

163970

NCBI Gene ID

6530

Uniprot ID

P23975

Length

50,265 bases

No. of Exons

18

No. of isoforms

3

Protein Name

Sodium-dependent noradrenaline transporter

Molecular Mass

69332 Da

Amino Acid Count

617

Genomic Location

chr16:55,655,927-55,706,191

Gene Map Locus
16q12.2

Description

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.[From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001172501.3:c.274+950_274+951insGGTGCCCAGTCCTGCUnited Arab EmiratesNC_000016.10:g.55657918_55657919insGGTGCCCAGTCCTGCNG_016969.1:g.7289_7290insGGTGCCCAGTCCTGC; NM_001172501.3:c.274+950_274+951insGGTGCCCAGTCCTGC; NP_001165972.1:p.?1610905
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