SLCtables

SLC6A2

Protein name: N/D Aliases: NAT1, NET1, NET Substrates: norepinephrine Transport type: N/D Tissue and cellular expression: brain (non adrenergic neuronal somata, axons, dendrites), peripheral nervous system, adrenal gland (chromaffin cells), placenta Subcellular expression: N/D Disease: depression, orthostatic intolerance, anorexia nervosa, cardiovascular disorders, ADHD Locus: 16q12.2 Sequence ID: NP_001034.1, NM_001043.3 NP_001165972.1, NM_001172501.1 Gene ID: 6530 Splice variants: N/D

SC6A2_HUMAN (UniProt)

Gene names: SLC6A2, NAT1, NET1, SLC6A5
Protein names and data: SC6A2_HUMAN, Full=Sodium-dependent noradrenaline transporter, Full=Norepinephrine transporter;Short=NET;Full=Solute carrier family 6 member 2; Length: 617 a.a., Mass: 69332 Da,
fasta formatted sequence
Function: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals
Disease: (OMIM: 163970 604715) Defects in SLC6A2 are a cause of orthostatic intolerance (OI) [MIM:604715]. OI is a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high
Cellular location: Membrane; Multi-pass membrane protein

Database cross-references

UniProt: P23975
NextBio: 25407
OMIM: 163970 604715
Ensembl: ENST00000568943
GeneCard: GC16P055656
TCDB: 2.A.22.1.2
PharmGenUCSF: SLC6A2
Guide to Pharmacology: SLC6A2 (926)
Monoamine transporter subfamily (926)
HGNC: HGNC:11048

Genetic variants

See also Ensembl:ENST00000568943

7 - 7 N -> K (in dbSNP:rs11568323). VAR_029157 11568323
69 - 69 V -> I (in dbSNP:rs1805064). VAR_011756 1805064
99 - 99 T -> I (in dbSNP:rs1805065). VAR_011757 1805065
245 - 245 V -> I (in dbSNP:rs1805066). VAR_011758 1805066
283 - 283 T -> R (in dbSNP:rs45564432). VAR_020048 45564432
292 - 292 N -> T (in dbSNP:rs5563). VAR_011759 5563
356 - 356 V -> L (in dbSNP:rs5565). VAR_011760 5565
369 - 369 A -> P (in dbSNP:rs5566). VAR_011761 5566
375 - 375 N -> S (in dbSNP:rs5567). VAR_011762 5567
449 - 449 V -> I (in dbSNP:rs2234910). VAR_014800 2234910
457 - 457 A -> P (in OI; loss of function). VAR_010022
463 - 463 K -> R (in dbSNP:rs5570). VAR_011763 5570
478 - 478 G -> S (in dbSNP:rs1805067). VAR_011764 1805067
528 - 528 F -> C (in dbSNP:rs5558). VAR_011765 5558
548 - 548 Y -> H (in dbSNP:rs5559). VAR_011766 5559
549 - 549 I -> T (in dbSNP:rs3743788). VAR_021861 3743788