SCN2B - sodium voltage-gated channel beta subunit 2 Gene

Also Known as ATFB14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6327

About SCN2B

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,162,806-118,176,639 (from NCBI)

This gene has 4 transcripts (splice variants), 190 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 17.5), heart (RPKM 5.3) and 5 other tissues.

Summary

The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated Sodium Channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]

SCN2B Products (1)

mRNA Protein Name
NM_004588.5 NP_004579.1 sodium channel subunit beta-2 precursor
Molecular Function GO Annotation Evidence References Source
enables sodium channel regulator activity IDA
IDA: Inferred from direct assay
19808477 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: Inferred from mutant phenotype
19808477 GOA
involved in cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
19808477 GOA
involved in membrane depolarization during action potential IDA
IDA: Inferred from direct assay
35277491 GOA
involved in membrane depolarization during cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
19808477 GOA
involved in positive regulation of sodium ion transport IDA
IDA: Inferred from direct assay
19808477 GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization IMP
IMP: Inferred from mutant phenotype
19808477 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
19808477 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
19808477 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

SCN2B Protein Structure

V-set

V-set: Immunoglobulin V-set domain (31 - 146)

  • 0
  • 100
  • 200
  • 215 a.a.
Protein Preferred Names Protein Names

sodium channel subunit beta-2

  • neuronal voltage-gated sodium channel beta 2 subunit

Recombinant SCN2B Proteins

Cat. No. Product Name Accession Purity
HY-P76051 SCN2B Protein, Human (HEK293, Fc) O60939 (M30-A159) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P76052 SCN2B Protein, Human (HEK293, His) O60939 (M30-A159) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Atrial Fibrillation, Familial, 14
  • ATFB14

  • Fibrillation, Atrial, Familial, Type 14

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]

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Atrial Fibrillation
  • A-Fib

  • Fibrillation, Atrial

  • Af - [Atrial Fibrillation]

  • Rapid Atrial Fibrillation

  • A Fib - [Atrial Fibrillation]

Right Bundle Branch Block
  • Right Bundle Branch Block With Left Posterior Fascicular Block

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

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

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

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

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

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

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Heart Conduction Disease
  • Conduction Disorder Of The Heart

  • Heart Rhythm Disease

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

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

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
Felis catus SCN2B VGNC VGNC:81943
Macaca mulatta SCN2B VGNC VGNC:76984
Rattus norvegicus SCN2B RGD RGD:3633
Canis familiaris SCN2B VGNC VGNC:45917
Bos taurus SCN2B VGNC VGNC:34348
Mus musculus SCN2B MGD MGI:106921
Others SCN2B NCBI