Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6530
Gene name	Solute carrier family 6 member 2
Gene symbol	SLC6A2
Synonyms (NCBI Gene)	NAT1NETNET1SLC6A5
Chromosome	16
Chromosome location	16q12.2
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918126	G>A,C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments
MIRT1366302	hsa-miR-1321	CLIP-seq
MIRT1366303	hsa-miR-150	CLIP-seq
MIRT1366304	hsa-miR-19a	CLIP-seq
MIRT1366305	hsa-miR-19b	CLIP-seq
MIRT1366306	hsa-miR-3665	CLIP-seq
MIRT1366307	hsa-miR-3934	CLIP-seq
MIRT1366308	hsa-miR-3944-5p	CLIP-seq
MIRT1366309	hsa-miR-4419a	CLIP-seq
MIRT1366310	hsa-miR-4510	CLIP-seq
MIRT1366311	hsa-miR-4715-3p	CLIP-seq
MIRT1366312	hsa-miR-4739	CLIP-seq
MIRT1366313	hsa-miR-4756-5p	CLIP-seq
MIRT1366314	hsa-miR-485-5p	CLIP-seq
MIRT1366315	hsa-miR-657	CLIP-seq
MIRT1366316	hsa-miR-3074-5p	CLIP-seq
MIRT1366317	hsa-miR-3591-3p	CLIP-seq
MIRT1366318	hsa-miR-3616-3p	CLIP-seq
MIRT1366319	hsa-miR-4685-5p	CLIP-seq
MIRT1366320	hsa-miR-4733-5p	CLIP-seq
MIRT1366321	hsa-miR-4773	CLIP-seq
MIRT1366322	hsa-miR-548a-3p	CLIP-seq
MIRT1366323	hsa-miR-548e	CLIP-seq
MIRT1366324	hsa-miR-548f	CLIP-seq
MIRT1366325	hsa-miR-549	CLIP-seq
MIRT1366326	hsa-miR-198	CLIP-seq
MIRT1366327	hsa-miR-3973	CLIP-seq
MIRT1366328	hsa-miR-520g	CLIP-seq
MIRT1366329	hsa-miR-520h	CLIP-seq
MIRT1366330	hsa-miR-548c-3p	CLIP-seq
MIRT2332369	hsa-miR-23a	CLIP-seq
MIRT2332370	hsa-miR-23b	CLIP-seq
MIRT2332371	hsa-miR-23c	CLIP-seq
MIRT2459859	hsa-miR-1224-3p	CLIP-seq
MIRT2459860	hsa-miR-1224-5p	CLIP-seq
MIRT2459861	hsa-miR-1294	CLIP-seq
MIRT2459862	hsa-miR-3176	CLIP-seq
MIRT2459863	hsa-miR-3922-3p	CLIP-seq
MIRT2459864	hsa-miR-4312	CLIP-seq
MIRT2459865	hsa-miR-4316	CLIP-seq
MIRT2459866	hsa-miR-4751	CLIP-seq
MIRT2459859	hsa-miR-1224-3p	CLIP-seq
MIRT2459860	hsa-miR-1224-5p	CLIP-seq
MIRT2459861	hsa-miR-1294	CLIP-seq
MIRT2459862	hsa-miR-3176	CLIP-seq
MIRT2459863	hsa-miR-3922-3p	CLIP-seq
MIRT2459864	hsa-miR-4312	CLIP-seq
MIRT2459865	hsa-miR-4316	CLIP-seq
MIRT2459866	hsa-miR-4751	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IPI	18331289
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	IEA
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	ISS
GO:0005328	Function	Neurotransmitter:sodium symporter activity	IEA
GO:0005330	Function	Dopamine:sodium symporter activity	IBA
GO:0005330	Function	Dopamine:sodium symporter activity	IDA	8125921, 11093780
GO:0005334	Function	Norepinephrine:sodium symporter activity	IBA
GO:0005334	Function	Norepinephrine:sodium symporter activity	IDA	2008212, 8125921, 11875370
GO:0005334	Function	Norepinephrine:sodium symporter activity	IEA
GO:0005334	Function	Norepinephrine:sodium symporter activity	TAS	2008212
GO:0005515	Function	Protein binding	IPI	11343649, 17156375, 18331289
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11343649
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2008212
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	ISS
GO:0006865	Process	Amino acid transport	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	2008212
GO:0008504	Function	Monoamine transmembrane transporter activity	IDA	16024787
GO:0008504	Function	Monoamine transmembrane transporter activity	IEA
GO:0008504	Function	Monoamine transmembrane transporter activity	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	IEA
GO:0015844	Process	Monoamine transport	IDA	16024787
GO:0015874	Process	Norepinephrine transport	IBA
GO:0015874	Process	Norepinephrine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2008212
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IBA
GO:0051620	Process	Norepinephrine uptake	IEA
GO:0051620	Process	Norepinephrine uptake	ISS
GO:0070050	Process	Neuron cellular homeostasis	TAS	18331289
GO:0090493	Process	Catecholamine uptake	IEA
GO:0098810	Process	Neurotransmitter reuptake	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
163970	11048	ENSG00000103546

P23975

Protein name

Sodium-dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2)

Protein 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 responsib

PDB

8HFE , 8HFF , 8HFG , 8HFI , 8HFL , 8I3V , 8WGR , 8WGX , 8WTU , 8WTV , 8WTW , 8WTX , 8WTY , 8XB2 , 8XB3 , 8XB4 , 8Y8Z , 8Y90 , 8Y91 , 8Y92 , 8Y93 , 8Y94 , 8Y95 , 8YR2 , 8Z1L , 8ZOY , 8ZP1 , 8ZP2 , 8ZPB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	56 → 580	Sodium:neurotransmitter symporter family	Family

Sequence

MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWG
KKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYN
REGAATVWKICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDCGHTW
NSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLC
LMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFY
RLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFA
IFSILGYMAHEHKVNIEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSS
MGGMEAVITGLADDFQVLKRHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAGTS
ILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVSPAFLLFVVVVSIINF
KPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHL
VAQRDIRQFQLQHWLAI

Sequence length

617

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle		Na+/Cl- dependent neurotransmitter transporters Defective SLC6A2 causes orthostatic intolerance (OI)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurocirculatory asthenia	Pathogenic	rs121918126	RCV000015043

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
SLC6A2-related disorder	Likely benign; Uncertain significance; Benign	rs754577163, rs201384450, rs1085307494, rs1805065, rs1805066, rs140641227	RCV004544123 RCV004539416 RCV000509239 RCV004533698 RCV004533632 RCV004543619
Uterine carcinosarcoma	-	rs42460	RCV006104298

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anxiety	Associate	26212818, 30341278
Attention Deficit Disorder with Hyperactivity	Associate	17146058, 18937296, 20929549, 21569456, 22297068, 22591463, 24978879, 26678348, 26746237, 31383926, 31426340, 31711956, 34573389
Auditory Perceptual Disorders	Associate	27230021, 31711956
Brain Neoplasms	Associate	20235875
Breast Neoplasms	Associate	27720787
Carcinoma Transitional Cell	Associate	16741311
Depressive Disorder	Associate	30957546
Depressive Disorder Major	Associate	24312678
Developmental Disabilities	Associate	39203776
Disease	Associate	17146058
Disruptive Impulse Control and Conduct Disorders	Associate	31383926
dopamine beta hydroxylase deficiency	Inhibit	10684912
dopamine beta hydroxylase deficiency	Associate	10684912, 24312678
Endometrial Neoplasms	Associate	29693365
Fatigue	Associate	27720787
Glioma	Associate	27515310
Heart Diseases	Associate	22533655
Hypertension	Associate	14620922, 22533655, 30957546
Hypertension	Stimulate	21844155
Lymphoblastic Transformation Inhibition of	Associate	21569456
Mastodynia	Associate	29723560
Multiple Endocrine Neoplasia Type 2a	Associate	16189177
Muscular Dystrophy Congenital Producing Arthrogryposis	Associate	16189177
Neoplasms	Inhibit	28383813
Neoplasms	Associate	7517173
Neuroblastoma	Associate	10899926, 29673366, 32660596, 37885116, 7517173
Neuroendocrine Tumors	Associate	15154969, 29673366
Non alcoholic Fatty Liver Disease	Associate	28953935
Orthostatic Intolerance	Associate	10684912
Panic Disorder	Associate	24312678
Parkinson Disease	Associate	21147074, 39855312
Polycystic Ovary Syndrome	Associate	28829492
Postural Orthostatic Tachycardia Syndrome	Associate	28352654
Schizophrenia	Associate	29032150
Sleep Wake Disorders	Associate	31711956
Spinal Curvatures	Associate	39855312
Symptom Flare Up	Associate	14620922
Tachycardia	Associate	10684912

SLC6A2 (solute carrier family 6 member 2)