SLC6A2 - solute carrier family 6 member 2 Gene

Also Known as NET; NAT1; NET1; SLC6A5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6530

About SLC6A2

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:55,655,988-55,706,192 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues, 19 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 4.7), placenta (RPKM 2.3) and 3 other tissues.

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. 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]

SLC6A2 Products (4)

mRNA	Protein	Name
NM_001043.3	NP_001034.1	sodium-dependent noradrenaline transporter isoform 2
NM_001172501.3	NP_001165972.1	sodium-dependent noradrenaline transporter isoform 2
NM_001172502.1	NP_001165973.1	sodium-dependent noradrenaline transporter isoform 3
NM_001172504.1	NP_001165975.1	sodium-dependent noradrenaline transporter isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin binding	IPI IPI: Inferred from physical interaction	18331289	GOA
enables dopamine:sodium symporter activity	IDA IDA: Inferred from direct assay	8125921	GOA
enables monoamine transmembrane transporter activity	IDA IDA: Inferred from direct assay	16024787	GOA
enables norepinephrine:sodium symporter activity	IDA IDA: Inferred from direct assay	2008212	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11343649	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within monoamine transport	IDA IDA: Inferred from direct assay	16024787	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	11343649	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A2 Protein Structure

SNF

0
100
200
300
400
500
617 a.a.

Protein Preferred Names	Protein Names
sodium-dependent noradrenaline transporter	neurotransmitter transporter

Related Diseases

Diseases	Alias
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Syncope
Oppositional Defiant Disorder	Disorder Oppositional Defiance Behavioural Disorder Oppositional Defiance Disruptive Mood Dysregulation Disorder
Generalized Anxiety Disorder	Anxiety Generalized
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Cocaine Abuse	Cocaine-Related Disorders
Panic Disorder	Panic Anxiety Syndrome Panic Panic Disorder 1 Episodic Paroxysmal Anxiety Disorder
Postural Orthostatic Tachycardia Syndrome	Irritable Heart Mitral Valve Prolapse Syndrome Neurocirculatory Asthenia Orthostatic Intolerance Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orhtostatic Intolerance Postural Tachycardia Syndrome Due To Net Deficiency Soldiers Heart
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Ocular Hyperemia	Hyperemia Eye Hyperemia Of Conjunctiva
Brittle Cornea Syndrome 2	BCS2 Cornea, Brittle, Syndrome Type 2 Ehlers-Danlos Syndrome 6b Ehlers-Danlos Syndrome Type 6
Dopamine Beta-Hydroxylase Deficiency	Noradrenaline Deficiency Norepinephrine Deficiency Dopamine Beta Hydroxylase Deficiency Congenital Dopamine Beta-Hydroxylase Deficiency Dopamine Beta-Hydroxylase Deficiency, Congenital Dopamine Β-Hydroxylase Dbh Deficiency
Anorexia Nervosa	Anorexia Nervosa, Susceptibility To ANON Anorexia Nervosa, Susceptibility To, 1 An Anorexia Nervosa 1 An - [Anorexia Nervosa]
Amphetamine Abuse
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Mood Disorder	Mood Disorders Episodic Mood Disorder
Constipation
Agoraphobia	Fear Of Open Spaces Phobia Of Going Out
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Neuroendocrine Tumor	Neuroendocrine Neoplasm Neuroendocrine Tumors Carcinoma, Neuroendocrine
Pyromania	Firesetting Behavior Pathological Firesetting Pathological Fire-Setting
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Malignant Pheochromocytoma	Pheochromocytoma, Malignant
Adrenal Medulla Cancer	Adrenal Medulla Neoplasm Adrenal Medulla Tumor Malignant Neoplasm Of Adrenal Medulla Malignant Tumor Of The Adrenal Medulla Adrenal Medulla Carcinoma Neoplasm Of Adrenal Medulla
Specific Developmental Disorder
Central Nervous System Disease	Cns Disorder CNS Cns Diseases Central Nervous System Diseases
Dysthymic Disorder	Dysthymia Chronic Depressive Disorder Chronic Depression Depressive Personality Depressive Personality Disorder Persistent Depressive Disorder Persistent Depression
Cocaine Dependence
Mental Depression	Depression Depressive Disorder
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Tic Disorder	Tics Behavioral Tic
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13306	SLC6A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20194	Slc6a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26699	Slc6a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC6A2	RGD	RGD:621822
Canis familiaris	SLC6A2	VGNC	VGNC:46462
Bos taurus	SLC6A2	VGNC	VGNC:34920
Felis catus	SLC6A2	VGNC	VGNC:65413
Macaca mulatta	SLC6A2	VGNC	VGNC:77618
Mus musculus	SLC6A2	MGD	MGI:1270850
Others	SLC6A2	NCBI