SCN4B - sodium voltage-gated channel beta subunit 4 Gene

Homo sapiens

Also known as LQT10; ATFB17; Navbeta4

Gene ID: 6330 | Gene type: protein coding

About SCN4B

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,133,377-118,152,823 (from NCBI)

This gene has 6 transcripts (splice variants), 263 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 19.5), brain (RPKM 8.6) and 18 other tissues.

Summary

The protein encoded by this gene is one of several Sodium Channel beta subunits. These subunits interact with voltage-gated alpha subunits to change Sodium Channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]

SCN4B Products(3)

mRNA	Protein	Name
NM_001142348.2	NP_001135820.1	sodium channel subunit beta-4 isoform 2
NM_001142349.2	NP_001135821.1	sodium channel subunit beta-4 isoform 3
NM_174934.4	NP_777594.1	sodium channel subunit beta-4 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sodium channel regulator activity	IDA IDA: Inferred from direct assay	17592081	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	17592081	GOA
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	12930796	GOA
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17592081	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in AV node cell action potential	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in membrane depolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in neuronal action potential	IDA IDA: Inferred from direct assay	24297919	GOA
involved in positive regulation of sodium ion transport	IDA IDA: Inferred from direct assay	17592081	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in regulation of sodium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	17592081	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	17592081	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	20226894	GOA
involved in sodium ion transport	IDA IDA: Inferred from direct assay	12930796	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	24297919	GOA
part of voltage-gated sodium channel complex	IDA IDA: Inferred from direct assay	12930796	GOA
part of voltage-gated sodium channel complex	IMP IMP: Inferred from mutant phenotype	24297919	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

SCN4B Protein Structure

V-set

0
100
200
228 a.a.

Protein Preferred Names

Protein Names

sodium channel subunit beta-4

sodium channel, voltage-gated, type IV, beta subunit

Related Diseases

Diseases

Alias

Long Qt Syndrome 10

LQT10	Atrial Fibrillation, Familial, 17
ATFB17	Long Qt Syndrome-10
Qt Syndrome, Long, Type 10

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Atrial Fibrillation

A-Fib	Fibrillation, Atrial
Af - [Atrial Fibrillation]	Rapid Atrial Fibrillation
A Fib - [Atrial Fibrillation]

Cardiac Arrhythmia, Ankyrin-B-Related

Long Qt Syndrome 4	Ankyrin-B Syndrome
LQT4	Ankyrin-B-Related Cardiac Arrhythmia
Sick Sinus Syndrome With Bradycardia	Arrhythmia, Cardiac, Ankyrin B-Related

Long Qt Syndrome 12

LQT12

Qt Syndrome, Long, Type 12

Erythromelalgia

Primary Erythromelalgia	Erythermalgia
Primary Erythermalgia	Mitchell Disease
Familial Erythromelalgia

Long Qt Syndrome 11

LQT11	Long Qt Syndrome-11
Qt Syndrome, Long, Type 11

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Long Qt Syndrome 9

LQT9	Long Qt Syndrome-9
Qt Syndrome, Long, Type 9

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	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
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Long Qt Syndrome 13

LQT13

Qt Syndrome, Long, Type 13

Long Qt Syndrome 3

LQT3	Long Qt Syndrome Type 3
Long Qt Syndrome-3	Qt Syndrome, Long, Type 3

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]

Long Qt Syndrome 6

LQT6	Long Qt Syndrome 3/6
Lqt3/6	Susceptibility To Acquired Long Qt Syndrome 6
Long Qt Syndrome-6	Long Qt Syndrome 6, Acquired, Susceptibility To
Qt Syndrome, Long, Type 6	Long Qt Syndrome 3-6

Long Qt Syndrome 5

LQT5	Long Qt Syndrome 2/5
Lqt2/5	Susceptibility To Acquired Long Qt Syndrome 5
Long Qt Syndrome-5	Long Qt Syndrome 5, Acquired, Susceptibility To
Qt Syndrome, Long, Type 5	Long Qt Syndrome 2-5

Long Qt Syndrome 14

LQT14

Long Qt Syndrome, Type 14

Long Qt Syndrome 15

LQT15

Long Qt Syndrome, Type 15

Long Qt Syndrome 2

LQT2	Long Qt Syndrome, Acquired, Reduced Susceptibility To
Long Qt Syndrome 1/2	Long Qt Syndrome 2/3
Long Qt Syndrome 2/5	Long Qt Syndrome 2, Acquired, Susceptibility To
Long Qt Syndrome, Acquired, Reduced	Long Qt Syndrome Type 2
Long Qt Syndrome 2/9	Lqt1/2
Lqt2/3	Lqt2/5
Lqt2/9	Susceptibility To Acquired Long Qt Syndrome 2
Long Qt Syndrome-2	Qt Syndrome, Long, Type 2
Long Qt Syndrome 1-2	Long Qt Syndrome 2-3
Long Qt Syndrome 2-5	Long Qt Syndrome 9

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

Timothy Syndrome

Long Qt Syndrome With Syndactyly	TS
Lqt8	Long Qt Syndrome 8
Long Qt Syndrome Type 8	Long Qt Syndrome-Syndactyly Syndrome

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome	Andersen-Tawil Syndrome
LQT7	Long Qt Syndrome 7
Ats	Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Long Qt Syndrome Type 7	Andersen Tawil Syndrome
Potassium-Sensitive Cardiodysrhythmic Type	Lqts Type 7
Long Qt Syndrome-7

Short Qt Syndrome

Sqts	Familial Short Qt Syndrome

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome	Jervell-Lange Nielsen Syndrome
Prolonged Qt Interval In Ekg And Sudden Death	Cardioauditory Syndrome Of Jervell And Lange-Nielsen
Surdo-Cardiac Syndrome	JLNS1
Deafness, Congenital, And Functional Heart Disease	Jlns
Long Qt Interval-Deafness Syndrome	Jervell And Lange-Nielson Syndrome
Jervell Lange-Nielsen Syndrome	Autosomal Recessive Long Qt Syndrome
Cardio-Auditory-Syncope Syndrome	Long Qt Interval-Hearing Loss Syndrome
Congenital Deafness And Functional Heart Disease	Long Qt Interval-Deafness

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

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

Intrinsic Cardiomyopathy

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12540	SCN4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SCN4B	VGNC	VGNC:104327
Macaca mulatta	SCN4B	VGNC	VGNC:107643
Canis familiaris	SCN4B	VGNC	VGNC:53439
Rattus norvegicus	SCN4B	RGD	RGD:631404
Mus musculus	SCN4B	MGD	MGI:2687406
Bos taurus	SCN4B	VGNC	VGNC:34351