2. Gene
  3. SCN2B - sodium voltage-gated channel beta subunit 2 Gene

SCN2B - sodium voltage-gated channel beta subunit 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钠电压门控通道 β 亚基 2

种属: Homo sapiens

同用名: ATFB14

基因 ID: 6327 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 II 型电压门控钠通道的 β2 亚基。编码的蛋白质参与细胞间粘附和细胞迁移。该基因的缺陷可能是 Brugada 综合症、心房颤动或婴儿猝死综合症的原因。[RefSeq 提供，2015 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_004588.5 NP_004579.1 sodium channel subunit beta-2 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 sodium channel regulator activity IDA
IDA: 通过直接分析推断
19808477 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: 通过突变表型推断
19808477 GOA
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
19808477 GOA
involved in membrane depolarization during action potential IDA
IDA: 通过直接分析推断
35277491 GOA
involved in membrane depolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
19808477 GOA
involved in positive regulation of sodium ion transport IDA
IDA: 通过直接分析推断
19808477 GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization IMP
IMP: 通过突变表型推断
19808477 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
19808477 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in plasma membrane IDA
IDA: 通过直接分析推断
35277491 GOA
part of voltage-gated sodium channel complex IDA
IDA: 通过直接分析推断
19808477 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

SCN2B 蛋白结构

V-set

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

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

sodium channel subunit beta-2

neuronal voltage-gated sodium channel beta 2 subunit

重组 SCN2B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76051 SCN2B Protein, Human (HEK293, Fc) O60939 (M30-A159) ≥95%
HY-P76052 SCN2B Protein, Human (HEK293, His) O60939 (M30-A159) ≥95%

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12532 SCN2B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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