1. Gene
  2. SCN4B - sodium voltage-gated channel beta subunit 4 Gene

SCN4B - sodium voltage-gated channel beta subunit 4 Gene

中文名称:钠电压门控通道 β 亚基 4

种属: Homo sapiens

同用名: LQT10; ATFB17; Navbeta4

基因 ID: 6330 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是几种钠通道 β 亚基之一。这些亚基与电压门控 alpha 亚基相互作用以改变钠通道动力学。编码的跨膜蛋白与 SCN2A 形成链间二硫键。该基因的缺陷是导致 10 型长 QT 综合征 (LQT10) 的原因。已发现该基因的三种蛋白质编码和一种非编码转录变体。[RefSeq 提供,2009 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sodium channel regulator activity IDA
IDA: 通过直接分析推断
17592081 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
17592081 GOA
enables voltage-gated sodium channel activity IDA
IDA: 通过直接分析推断
12930796 GOA
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
17592081 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
24297919 GOA
part of voltage-gated sodium channel complex IDA
IDA: 通过直接分析推断
12930796 GOA
part of voltage-gated sodium channel complex IMP
IMP: 通过突变表型推断
24297919 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SCN4B 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (38 - 144)

  • 0
  • 100
  • 200
  • 228 a.a.
蛋白主名 其他名称

sodium channel subunit beta-4

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

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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