SCN3A - sodium voltage-gated channel alpha subunit 3 Gene

Also Known as NAC3; DEE62; EIEE62; FFEVF4; Nav1.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6328

About SCN3A

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:165,087,526-165,204,050 (from NCBI)

This gene has 12 transcripts (splice variants), 130 orthologues, 26 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 5.7), adrenal (RPKM 1.1) and 11 other tissues.

Summary

Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the Sodium Channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SCN3A Products (13)

mRNA	Protein	Name
XM_017004661.3	XP_016860150.1	sodium channel protein type 3 subunit alpha isoform X3
NM_006922.4	NP_008853.3	sodium channel protein type 3 subunit alpha isoform 1
XM_017004660.3	XP_016860149.1	sodium channel protein type 3 subunit alpha isoform X1
XM_017004665.2	XP_016860154.1	sodium channel protein type 3 subunit alpha isoform X9
NM_001081677.2	NP_001075146.1	sodium channel protein type 3 subunit alpha isoform 3
XM_047445394.1	XP_047301350.1	sodium channel protein type 3 subunit alpha isoform X4
NM_001081676.2	NP_001075145.1	sodium channel protein type 3 subunit alpha isoform 2
XM_011511610.4	XP_011509912.1	sodium channel protein type 3 subunit alpha isoform X2
XM_017004662.3	XP_016860151.1	sodium channel protein type 3 subunit alpha isoform X5
XM_047445395.1	XP_047301351.1	sodium channel protein type 3 subunit alpha isoform X7
XM_011511613.4	XP_011509915.1	sodium channel protein type 3 subunit alpha isoform X6
XM_017004664.2	XP_016860153.1	sodium channel protein type 3 subunit alpha isoform X8
XM_017004666.2	XP_016860155.1	sodium channel protein type 3 subunit alpha isoform X10

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	35277491	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane depolarization during action potential	IDA IDA: Inferred from direct assay	35277491	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	35277491	GOA
part of voltage-gated sodium channel complex	IDA IDA: Inferred from direct assay	35277491	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

SCN3A Protein Structure

Ion_trans

Na_trans_cytopl

Ion_trans

Na_trans_assoc

Ion_trans

0
400
800
1200
1600
2000 a.a.

Protein Preferred Names	Protein Names
sodium channel protein type 3 subunit alpha	brain III voltage-gated sodium channel sodium channel protein brain III subunit alpha sodium channel protein type III subunit alpha sodium channel, voltage gated, type III alpha subunit sodium channel, voltage-gated, type III, alpha polypeptide voltage-gated sodium channel subtype III voltage-gated sodium channel subunit alpha Nav1.3

Related Diseases

Diseases	Alias
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Progressive Familial Heart Block, Type Ia	PFHB1A Bundle Branch Block Heart Block, Nonprogressive Lenegre-Lev Disease Hereditary Bundle Branch System Defect Progressive Familial Heart Block Type Ia Pfhbia Pccd Hbbd Progressive Familial Heart Block, Type 1a Heart Block, Progressive Familial, Type I Pfhbi Cardiac Conduction Defect, Progressive Heart Block, Progressive, Type Ia Progressive Familial Heart Block Type 1a Familial Progressive Cardiac Conduction Defect Heart Block Progressive Familial Type 1 Familial Lenègre Disease Familial Lev Disease Familial Lev-Lenègre Disease Familial Pccd Familial Progressive Heart Block Hereditary Bundle Branch Defect Progressive Familial Heart Block Progressive Familial Heart Block 1a Cardiac Conduction Defect Progressive Cardiac Conduction Defect Progressive Familial Heart Block Type I Heart Block, Progressive, Familial, Type 1a Bundle-Branch Block Conduction Disorder Of The Heart
Epilepsy, Idiopathic Generalized 12	EIG12 Epilepsy, Idiopathic Generalized, Susceptibility To, 12 Idiopathic Generalized Epilepsy 12 Susceptibility To Idiopathic Generalized Epilepsy 12 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Suppression Bursts Early Infantile Epileptic Encephalopathy With Burst-Suppression Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Smei Severe Myoclonic Epilepsy In Infancy Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Developmental And Epileptic Encephalopathy, 6 Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Autonomic Nervous System Disease	Autonomic Nervous System Dysfunction Autonomic Nervous System Disorders Autonomic Nervous System Disorder Autonomic Nervous System Diseases Abnormality Of The Autonomic Nervous System
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Paroxysmal Extreme Pain Disorder	PEPD Familial Rectal Pain Pexpd Submandibular, Ocular, And Rectal Pain With Flushing Pain, Submandibular, Ocular, And Rectal, With Flushing Rectal Pain, Familial Submandibular, Ocular And Rectal Pain With Flushing Familial Rectal Syndrome Frp Pain Disorder, Paroxysmal, Extreme
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Episodic Pain Syndrome, Familial, 3	FEPS3 Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement Familial Episodic Pain Syndrome 3
Neonatal Period Electroclinical Syndrome
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Scn3a-Related Neurodevelopmental Disorder
Abnormality Of Glucagon Secretion	Glucagon Secretion Abnormality Abnormality Of Secretion Of Glucagon
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Trigeminal Nerve Disease	Trigeminal Nerve Diseases Disorders Of 5th Cranial Nerve Disorders Of The Fifth Cranial Nerve
Somatoform Disorder	Physiological Malfunction Arising From Mental Factor Psychosomatic Disorder Psychophysiologic Disorders
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Lennox-Gastaut Syndrome	Epileptic Encephalopathy Lennox-Gastaut Type Lennox Syndrome Encephalopathy Of Childhood Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Episodic Pain Syndrome, Familial, 2	FEPS2 Familial Episodic Pain Syndrome 2
Developmental And Epileptic Encephalopathy 13	Epileptic Encephalopathy, Early Infantile, 13 DEE13 Eiee13 Developmental And Epileptic Encephalopathy, 13 Early Infantile Epileptic Encephalopathy 13 Scn8a Encephalopathy Early Infantile Epileptic Encephalopathy-13 Scn8a Epilepsy Encephalopathy, Developmental And Epileptic, Type 13
Polymicrogyria	Pmg
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
Diabetic Neuropathy	Diabetic Neuropathies
Dystonia 9	DYT9 Choreoathetosis/Spasticity, Episodic Episodic Choreoathetosis/Spasticity Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity Cse Dystonia-9 Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity Paroxysmal Choreoathetosis With Episodic Ataxia Dystonia, Type 9
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Epilepsy, Familial Focal, With Variable Foci 4	FFEVF4 Epilepsy, Familial Focal, With Variable Foci, Type 4
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Developmental And Epileptic Encephalopathy 62	DEE62 Epileptic Encephalopathy, Early Infantile, 62 Eiee62 Developmental And Epileptic Encephalopathy, 62 Early Infantile Epileptic Encephalopathy 62 Encephalopathy, Epileptic, Early Infantile, Type 62
Trigeminal Neuralgia	Tic Douloureux Trifacial Neuralgia Trifocal Neuralgia Neuralgia Of The Fifth Cranial Nerve Neuralgia Of 5th Cranial Nerve Infraorbital Neuralgia
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome

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-RS12533	SCN3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12534	Scn3a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12535	Scn3a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SCN3A	RGD	RGD:3635
Mus musculus	SCN3A	MGD	MGI:98249
Bos taurus	SCN3A	VGNC	VGNC:55078
Felis catus	SCN3A	VGNC	VGNC:64922
Macaca mulatta	SCN3A	VGNC	VGNC:76985
Canis familiaris	SCN3A	VGNC	VGNC:45918
Others	SCN3A	NCBI