1. Gene
  2. SCN3A - sodium voltage-gated channel alpha subunit 3 Gene

SCN3A - sodium voltage-gated channel alpha subunit 3 Gene

Homo sapiens

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

Gene ID: 6328 | Gene type: protein coding

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

SCN3A Protein Structure

Ion_trans

Ion_trans: Ion transport protein (157 - 423)

Na_trans_cytopl

Na_trans_cytopl: Cytoplasmic domain of voltage-gated Na+ ion channel (486 - 708)

Ion_trans

Ion_trans: Ion transport protein (796 - 982)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (998 - 1216)

Ion_trans

Ion_trans: Ion transport protein (1242 - 1467)

Ion_trans

Ion_trans: Ion transport protein (1561 - 1770)

  • 0
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  • 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

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