• Gene id: 6530

Gene Summary

• Gene Symbol: SLC6A2   Gene   UCSC   Ensembl
• Aliases: NAT1, NET, NET1, SLC6A5
• Gene name: solute carrier family 6 member 2
• Alternate names: sodium-dependent noradrenaline transporter, neurotransmitter transporter, norepinephrine transporter, solute carrier family 6 (neurotransmitter transporter), member 2, solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, solute carri,
• Gene location: 16q12.2 (55655927: 55706191)     Exons: 18     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 163970

Protein Summary

• Protein general information: P23975  
  • Name: Sodium dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2)
  • Length: 617  
  • Mass: 69332
• Sequence:

  MLLARMNPQVQPENNGADTGPEQPLRARKTAELLVVKERNGVQCLLAPRDGDAQPRETWGKKIDFLLSVVGFAVD
  LANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYNREGAATVWKICPFFKGVGYAVILIALYVGF
  YYNVIIAWSLYYLFSSFTLNLPWTDCGHTWNSPNCTDPKLLNGSVLGNHTKYSKYKFTPAAEFYERGVLHLHESS
  GIHDIGLPQWQLLLCLMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHIDFY
  RLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFAIFSILGYMAHEHKVN
  IEDVATEGAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSSMGGMEAVITGLADDFQVLKRHRKLFTFGVT
  FSTFLLALFCITKGGIYVLTLLDTFAAGTSILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLYWRLCWKFVS
  PAFLLFVVVVSIINFKPLTYDDYIFPPWANWVGWGIALSSMVLVPIYVIYKFLSTQGSLWERLAYGITPENEHHL
  VAQRDIRQFQLQHWLAI

• Structural information:
  • Interpro: IPR000175  IPR002435  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000219833
• Other Databases: GeneCards:  SLC6A2  Malacards:  SLC6A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005326	neurotransmitter transmembrane transporter activity	ISS	molecular function
GO:0003779	actin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008504	monoamine transmembrane transporter activity	ISS	molecular function
GO:0006836	neurotransmitter transport	ISS	biological process
GO:0070050	neuron cellular homeostasis	TAS	biological process
GO:0051620	norepinephrine uptake	ISS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005334	norepinephrine:sodium symporter activity	IBA	molecular function
GO:0032809	neuronal cell body membrane	IBA	cellular component
GO:0005330	dopamine:sodium symporter activity	IBA	molecular function
GO:0051583	dopamine uptake involved in synaptic transmission	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0015874	norepinephrine transport	IBA	biological process
GO:0005328	neurotransmitter:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005334	norepinephrine:sodium symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0008504	monoamine transmembrane transporter activity	IDA	molecular function
GO:0015844	monoamine transport	IDA	biological process
GO:0005334	norepinephrine:sodium symporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0015874	norepinephrine transport	IEA	biological process
GO:0098810	neurotransmitter reuptake	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0048487	beta-tubulin binding	IEA	molecular function
GO:0043014	alpha-tubulin binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005334	norepinephrine:sodium symporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Orthostatic intolerance	KEGG:H01031
Orthostatic intolerance	KEGG:H01031
Hypertension	PMID:17124432
Neurocirculatory asthenia	PMID:10684912
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq