SLC6A2
entrez
6530
canonical
uniprot
P23975
canonical
ensembl
ENSG00000103546
resolver
ensp
ENSP00000219833
resolver
ensp
ENSP00000369237
resolver
ensp
ENSP00000456210
resolver
ensp
ENSP00000457375
resolver
ensp
ENSP00000457473
resolver
ensp
ENSP00000460214
resolver
ensp
ENSP00000508367
resolver
enst
ENST00000566163
resolver
enst
ENST00000574918
resolver
genesymbol
SLC6A2
resolver
genesymbol_syn
NAT1
resolver
genesymbol_syn
NET1
resolver
genesymbol_syn
SLC6A5
resolver
hgnc
HGNC:11048
resolver
uniprot
B2R707
resolver
uniprot
B4DX48
resolver
uniprot
H3BRE9
resolver
uniprot
I3L368
resolver
uniprot
Q96KH8
resolver
uniprot_entry
H3BRE9_HUMAN
resolver
uniprot_entry
SC6A2_HUMAN
resolver
uniprot_sec
B2R707
resolver
uniprot_sec
B4DX48
resolver
uniprot_sec
I3L368
resolver
uniprot_sec
Q96KH8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by mazindol, desipramine, nomifensine and nortriptyline. {ECO:0000269|PubMed:2008212}.
uniprot
proteins
amino_acid_sequence
MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWGKKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYNREGAATVWKICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDCGHTWNSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLCLMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFYRLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFAIFSILGYMAHEHKVNIEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSSMGGMEAVITGLADDFQVLKRHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAGTSILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVSPAFLLFVVVVSIINFKPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHLVAQRDIRQFQLQHWLAI
uniprot
proteins
disease_involvement
DISEASE: Orthostatic intolerance (ORSTI) [MIM:604715]: An autosomal dominant disorder characterized by lightheadedness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. Plasma norepinephrine concentration is abnormally high. {ECO:0000269|PubMed:10684912, ECO:0000269|PubMed:11875370}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signaling neurotransmitter in the autonomic sympathetic nervous system (PubMed:2008212, PubMed:8125921, PubMed:38750358). Is responsible for norepinephrine re-uptake and clearance from the synaptic cleft, thus playing a crucial role in norepinephrine inactivation and homeostasis (By similarity). Can also mediate sodium- and chloride-dependent transport of dopamine (PubMed:11093780, PubMed:8125921, PubMed:39395208, PubMed:39048818). {ECO:0000250|UniProtKB:O55192, ECO:0000269|PubMed:11093780, ECO:0000269|PubMed:2008212, ECO:0000269|PubMed:38750358, ECO:0000269|PubMed:39048818, ECO:0000269|PubMed:8125921}.
uniprot
proteins
mass_dalton
69332
uniprot
proteins
mutagenesis
MUTAGEN 44; /note="C->A: Decreased protein levels. Decreased dopamine uptake."; /evidence="ECO:0000269|PubMed:39395208"; MUTAGEN 72; /note="F->A: Loss of norepinephrine binding."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 75; /note="D->A: Loss of norepinephrine binding. Abolishes norepinephrine uptake."; /evidence="ECO:0000269|PubMed:38750358, ECO:0000269|PubMed:39048818"; MUTAGEN 75; /note="D->N: Abolishes norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 135; /note="K->A: Decreased homodimerization and norepinephrine transport; when associated with A-435, A-438 and A-444."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 148; /note="V->A: Decreased norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 149; /note="G->A: Decreased norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 152; /note="Y->A: Loss of norepinephrine binding."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 152; /note="Y->F: Severely decreased norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 153; /note="N->A: Abolishes norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 232; /note="L->A: Decreased homodimerization and norepinephrine transport; when associated with A-235, A-459 and A-553."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 235; /note="W->A: Decreased homodimerization and norepinephrine transport; when associated with A-232, A-459 and A-553."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 317; /note="F->A: Loss of norepinephrine binding."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 320; /note="G->A: Loss of norepinephrine binding."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 323; /note="F->A: Loss of norepinephrine binding. Abolishes norepinephrine uptake."; /evidence="ECO:0000269|PubMed:38750358, ECO:0000269|PubMed:39048818"; MUTAGEN 325; /note="V->A: Decreased norepinephrine uptake."; /evidence="ECO:0000269|PubMed:39048818"; MUTAGEN 419; /note="S->A: Loss of norepinephrine binding."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 420; /note="S->A: No effect on norepinephrine binding. Decreased norepinephrine uptake."; /evidence="ECO:0000269|PubMed:38750358, ECO:0000269|PubMed:39048818"; MUTAGEN 423; /note="G->A: Loss of norepinephrine binding. Abolishes norepinephrine uptake."; /evidence="ECO:0000269|PubMed:38750358, ECO:0000269|PubMed:39048818"; MUTAGEN 435; /note="F->A: Decreased homodimerization and norepinephrine transport; when associated with A-135, A-438 and A-444."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 438; /note="L->A: Decreased homodimerization and norepinephrine transport; when associated with A-135, A-435 and A-444."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 444; /note="L->A: Decreased homodimerization and norepinephrine transport; when associated with A-135, A-435 and A-438."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 459; /note="F->A: Decreased homodimerization and norepinephrine transport; when associated with A-232, A-235 and A-553."; /evidence="ECO:0000269|PubMed:38750358"; MUTAGEN 553; /note="W->A: Decreased homodimerization and norepinephrine transport; when associated with A-232, A-235 and A-459."; /evidence="ECO:0000269|PubMed:38750358
uniprot
proteins
post_translational_modification
PTM: Palmitoylated; palmitoylation regulates protein levels and neurotransmitter transport (PubMed:39395208). {ECO:0000269|PubMed:39395208}.
uniprot
proteins
protein_family
SLC6A2 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
10684912
uniprot
proteins
pubmed
11093780
uniprot
proteins
pubmed
11343649
uniprot
proteins
pubmed
11875370
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
2008212
uniprot
proteins
pubmed
38750358
uniprot
proteins
pubmed
39048818
uniprot
proteins
pubmed
39395208
uniprot
proteins
pubmed
7488042
uniprot
proteins
pubmed
8125921
uniprot
proteins
pubmed
9655936
uniprot
proteins
sequence_length
617
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11343649}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:O55192}. Synapse, synaptosome {ECO:0000250|UniProtKB:O55192}.
uniprot
proteins
transmembrane_region
TRANSMEM 63..88; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 93..116; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 136..166; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 234..254; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 258..282; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 307..332; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 339..362; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 403..428; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 444..464; /note="Helical; Name=9"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 466..492; /note="Helical; Name=10"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 523..545; /note="Helical; Name=11"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6"; TRANSMEM 549..569; /note="Helical; Name=12"; /evidence="ECO:0000250|UniProtKB:Q7K4Y6
uniprot
proteins