Human Gene SLC6A2 (uc021tio.1) Description and Page Index
Description: Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. RefSeq Summary (NM_001172504): 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]. Transcript (Including UTRs) Position: hg19 chr16:55,690,556-55,740,104 Size: 49,549 Total Exon Count: 14 Strand: + Coding Region Position: hg19 chr16:55,690,607-55,739,184 Size: 48,578 Coding Exon Count: 14
ADHD | attention-deficit hyperactivity disorder Nicolas Ramoz , et al. Neuropsychopharmacology 2009 34(9):2135-42, A haplotype of the norepinephrine transporter (Net) gene Slc6a2 is associated with clinical response to atomoxetine in attention-deficit hyperactivity disorder (ADHD)., Neuropsychopharmacology 2009 34(9):2135-42.
amphetamine response Dlugos, A. et al. 2007, Norepinephrine Transporter Gene Variation Modulates Acute Response to d-Amphetamine, Biol Psychiatry 2007.
Polymorphisms in the SLC6A2 gene were associated with mood responses to D-amphetamine. If confirmed, this observation may contribute to a better understanding of interindividual variations in the clinical response to amphetamine and in the risk of becoming addicted to amphetamine.
Anorexia Nervosa Urwin RE et al. 2002, Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region., Molecular psychiatry. 2002 ;7(6):652-7.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00209 - Sodium:neurotransmitter symporter family
ModBase Predicted Comparative 3D Structure on P23975-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-443997 SLC6A2 cotransports NAd, Na+ from extracellular region to cytosol R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds R-HSA-425428 Amine compound SLC transporters R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules