1. Gene
  2. SCN3B - sodium voltage-gated channel beta subunit 3 Gene

SCN3B - sodium voltage-gated channel beta subunit 3 Gene

中文名称:钠电压门控通道 β 亚基 3

种属: Homo sapiens

同用名: SCNB3; ATFB16; BRGDA7; HSA243396

基因 ID: 55800 | 基因类型: protein coding

关于 SCN3B

Cytogenetic location: 11q24.1 Genomic coordinates (GRCh38): 11:123,629,188-123,654,624 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in brain (RPKM 50.6) and adrenal (RPKM 4.9).

功能概要

电压门控钠通道是由一个大的 α 亚基和一个或多个调节性 β 亚基组成的跨膜糖蛋白复合物。它们负责神经元和肌肉中动作电位的产生和传播。该基因编码钠通道 β 亚基基因家族的一个成员,并影响钠通道的失活动力学。已经鉴定出编码相同蛋白质的两种可变剪接变体。[RefSeq 提供,2008 年 7 月]

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family, and influences the inactivation kinetics of the Sodium Channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

SCN3B 基因产物(2)

mRNA Protein Name
NM_001040151.2 NP_001035241.1 sodium channel subunit beta-3 precursor
NM_018400.4 NP_060870.1 sodium channel subunit beta-3 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
28514442 GOA
enables sodium channel regulator activity IDA
IDA: 通过直接分析推断
20226894 GOA
enables sodium channel regulator activity IMP
IMP: 通过突变表型推断
20042427 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
20042427 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
21051419 GOA
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: 通过突变表型推断
21051419 GOA
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
20042427 GOA
involved in membrane depolarization IDA
IDA: 通过直接分析推断
21051419 GOA
involved in membrane depolarization during action potential IDA
IDA: 通过直接分析推断
20042427 GOA
involved in membrane depolarization during action potential IMP
IMP: 通过突变表型推断
21051419 GOA
involved in membrane depolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
21051419 GOA
involved in positive regulation of sodium ion transport IDA
IDA: 通过直接分析推断
20042427 GOA
involved in positive regulation of sodium ion transport IMP
IMP: 通过突变表型推断
21051419 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
20042427 GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization IMP
IMP: 通过突变表型推断
21051419 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
20042427 GOA
involved in regulation of ventricular cardiac muscle cell membrane depolarization IMP
IMP: 通过突变表型推断
20042427 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
20226894 GOA
involved in ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
20042427 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
24567321 GOA
part of voltage-gated sodium channel complex IDA
IDA: 通过直接分析推断
20042427 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

SCN3B 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (25 - 141)

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

sodium channel subunit beta-3

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

SCN3B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SCN3B Q9NY72 NINJ2 Homo sapiens Q9NZG7 32296183
种属内
SCN3B Q9NY72 MARCHF2 Homo sapiens Q9P0N8 32296183
种属内
SCN3B Q9NY72 ORMDL1 Homo sapiens Q9P0S3 32296183
种属内
SCN3B Q9NY72 VAPA Homo sapiens Q9P0L0 32296183
种属内
SCN3B Q9NY72 TVP23B Homo sapiens Q9NYZ1 32296183
种属内
SCN3B Q9NY72 SFXN3 Homo sapiens Q9BWM7 33961781
种属内
SCN3B Q9NY72 SFXN3 Homo sapiens Q9BWM7 28514442
种属内
SCN3B Q9NY72 ARV1 Homo sapiens Q9H2C2 28514442
种属内
SCN3B Q9NY72 ARV1 Homo sapiens Q9H2C2 33961781
种属内
SCN3B Q9NY72 LPAR3 Homo sapiens Q9UBY5 32296183
种属内
SCN3B Q9NY72 TMEM14A Homo sapiens Q9Y6G1 32296183
种属内
SCN3B Q9NY72 UBIAD1 Homo sapiens Q9Y5Z9 32296183
种属内
SCN3B Q9NY72 THSD7A Homo sapiens Q9UPZ6 32296183
种属内
SCN3B Q9NY72 FIS1 Homo sapiens Q9Y3D6 32296183
种属内
SCN3B Q9NY72 ERG28 Homo sapiens Q9UKR5 33961781
种属内
SCN3B Q9NY72 ERG28 Homo sapiens Q9UKR5 32296183
种属内
SCN3B Q9NY72 IER3IP1 Homo sapiens Q9Y5U9 32296183
种属内
SCN3B Q9NY72 STX8 Homo sapiens Q9UNK0 32296183
种属内
SCN3B Q9NY72 USE1 Homo sapiens Q9NZ43 32296183
种属内
SCN3B Q9NY72 INSIG2 Homo sapiens Q9Y5U4 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SCN3B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76634 SCN3B Protein, Human (HEK293, Fc) Q9NY72 (M1-E159) ≥95%
HY-P76635 SCN3B Protein, Human (HEK293, His) Q9NY72 (F23-E159) ≥95%

关联疾病

疾病名称 别名
Brugada Syndrome 7

Atrial Fibrillation, Familial, 16

BRGDA7

ATFB16

Brugada Syndrome, Type 7

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

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]

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

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

Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Short Qt Syndrome

Sqts

Familial Short Qt Syndrome

Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

Second-Degree Atrioventricular Block

Second-Degree Heart Block

Second Degree Atrioventricular Block

Second Degree Atrioventricular Heart Block

Second Degree Heart Block

Incomplete Atrioventricular Block, Second Degree Nos

Second-Degree Block, Type 1 And 2

Atrioventricular Block, Type 1 And 2

Second Degree Incomplete Atrioventricular Block

Av - [Atrioventricular] Block 2nd

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

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

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

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

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

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

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

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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
Macaca mulatta SCN3B VGNC VGNC:77064
Rattus norvegicus SCN3B RGD RGD:621657
Mus musculus SCN3B MGD MGI:1918882
Felis catus SCN3B VGNC VGNC:64923
Bos taurus SCN3B VGNC VGNC:34349
Canis familiaris SCN3B VGNC VGNC:45919
Others SCN3B NCBI