1. Gene
  2. SCN10A - sodium voltage-gated channel alpha subunit 10 Gene

SCN10A - sodium voltage-gated channel alpha subunit 10 Gene

中文名称:钠电压门控通道 α 亚基 10

种属: Homo sapiens

同用名: PN3; SNS; FEPS2; Nav1.8

基因 ID: 6336 | 基因类型: protein coding

关于 SCN10A

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,696,807-38,816,217 (from NCBI)

This gene has 3 transcripts (splice variants), 331 orthologues, 26 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种抗河豚毒素的电压门控钠通道α亚基。由编码的跨膜蛋白形成的通道的特性可以通过与不同的 β 亚基相互作用而改变。这种蛋白质可能与周围神经病变相关的疼痛发作有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 6 月]

The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated Sodium Channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

SCN10A 基因产物(6)

mRNA Protein Name
NM_001293306.2 NP_001280235.2 sodium channel protein type 10 subunit alpha isoform 2
NM_001293307.2 NP_001280236.2 sodium channel protein type 10 subunit alpha isoform 3
NM_006514.4 NP_006505.4 sodium channel protein type 10 subunit alpha isoform 1
XM_011533993.3 XP_011532295.1 sodium channel protein type 10 subunit alpha isoform X2
XM_005265371.4 XP_005265428.1 sodium channel protein type 10 subunit alpha isoform X1
XM_011533994.3 XP_011532296.1 sodium channel protein type 10 subunit alpha isoform X3
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 transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
24998131 GOA
enables voltage-gated sodium channel activity IDA
IDA: 通过直接分析推断
9839820 GOA
enables voltage-gated sodium channel activity IMP
IMP: 通过突变表型推断
23115331 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in AV node cell action potential IMP
IMP: 通过突变表型推断
24998131 GOA
involved in bundle of His cell action potential IMP
IMP: 通过突变表型推断
24998131 GOA
involved in membrane depolarization during action potential IMP
IMP: 通过突变表型推断
23115331 GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization IMP
IMP: 通过突变表型推断
20062061 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: 通过突变表型推断
20062061 GOA
involved in regulation of heart rate IMP
IMP: 通过突变表型推断
20062061 GOA
involved in regulation of monoatomic ion transmembrane transport IDA
IDA: 通过直接分析推断
9839820 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
9839820 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
23115331 GOA
part of voltage-gated sodium channel complex IDA
IDA: 通过直接分析推断
9839820 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

SCN10A 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (156 - 396)

Ion_trans

Ion_trans: Ion transport protein (700 - 888)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (904 - 1162)

Ion_trans

Ion_trans: Ion transport protein (1189 - 1417)

Ion_trans

Ion_trans: Ion transport protein (1511 - 1721)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1956 a.a.
蛋白主名 其他名称

sodium channel protein type 10 subunit alpha

peripheral nerve sodium channel 3

sensory neuron sodium channel

sodium channel protein type X subunit alpha

sodium channel, voltage-gated, type X, alpha polypeptide

sodium channel, voltage-gated, type X, alpha subunit

voltage-gated sodium channel subunit alpha Nav1.8

关联疾病

疾病名称 别名
Penile Benign Neoplasm

Neoplasm Of Penis

Penile Tumor

Cancer Of Penis

Carcinoma Of Penis

Malignant Neoplasm Of Penis, Unspecified

Malignant Neoplasm Of Penis, Part Unspecified

Malignant Tumour Of Penis

Penile Cancer

Primary Malignant Neoplasm Of Penis

Malignant Neoplasm Of Skin Of Penis Nos

Trigeminal Neuralgia

Tic Douloureux

Trifacial Neuralgia

Trifocal Neuralgia

Neuralgia Of The Fifth Cranial Nerve

Neuralgia Of 5th Cranial Nerve

Infraorbital Neuralgia

Laurence-Moon Syndrome

LNMS

Laurence-Moon-Biedl Syndrome

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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Episodic Pain Syndrome, Familial, 2

FEPS2

Familial Episodic Pain Syndrome 2

Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia

Neuroma
Diabetic Polyneuropathy

Diabetes Mellitus With Polyneuropathy

Polyneuropathy In Diabetes

Diabetic Polyneuropathies

Diabetic Neuropathy Nos

Bladder Clear Cell Adenocarcinoma

Bladder Mesonephric Adenocarcinoma

Clear Cell Adenocarcinoma Of Bladder

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Pain Agnosia

Analgesia

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Episodic Pain Syndrome, Familial, 3

FEPS3

Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement

Familial Episodic Pain Syndrome 3

Diabetic Neuropathy

Diabetic Neuropathies

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

Brugada Syndrome 1

BRGDA1

Sudden Unexplained Nocturnal Death Syndrome

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sunds

Brugada Syndrome, Type 1

Brugada Syndrome

Penile Cancer

Penis Carcinoma

Penile Neoplasm

Penile Carcinoma

Penile Neoplasms

Malignant Neoplasm Of Penis

Ca Penis

Malignant Neoplasm Of Body Of Penis

Malignant Penile Tumor

Penile Ca

Carcinoma Of Penis

Agnosia

Dyspraxia

Primary Visual Agnosia

Dyspraxia Syndrome

Monomodal Visual Amnesia

Visual Amnesia

Agnosia, Primary Visual

Apraxias

Alexia

Hard Palate Cancer

Malignant Neoplasm Of Hard Palate

Malignant Tumor Of Hard Palate

Malignant Tumour Of Hard Palate

Penile Disease

Penile Diseases

Complex Regional Pain Syndrome

Complex Regional Pain Syndromes

Reflex Sympathetic Dystrophy

Crps

Gastric Diffuse Adenocarcinoma

Diffuse Gastric Adenocarcinoma

Carcinoma, Diffuse Type

Familial Episodic Pain Syndrome

Feps

Trigeminal Nerve Disease

Trigeminal Nerve Diseases

Disorders Of 5th Cranial Nerve

Disorders Of The Fifth Cranial Nerve

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Smei

Severe Myoclonic Epilepsy In Infancy

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

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

Developmental And Epileptic Encephalopathy, 6

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Autonomic Nervous System Disease

Autonomic Nervous System Dysfunction

Autonomic Nervous System Disorders

Autonomic Nervous System Disorder

Autonomic Nervous System Diseases

Abnormality Of The Autonomic Nervous System

Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction

Indifference To Pain, Congenital, Autosomal Recessive

Asymbolia For Pain

Neuropathy, Hereditary Sensory And Autonomic, Type Iid

CIP

Insensitivity To Pain, Channelopathy-Associated

Congenital Analgesia, Autosomal Recessive

Insensitivity To Pain, Congenital

Congenital Insensitivity To Pain-Anosmia-Neuropathic Arthropathy

Scn9a-Related Congenital Insensitivity To Pain

Channelopathy-Associated Insensitivity To Pain

Congenital Analgesia Autosomal Recessive

Somatoform Disorder

Physiological Malfunction Arising From Mental Factor

Psychosomatic Disorder

Psychophysiologic Disorders

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]

Causalgia

Complex Regional Pain Syndrome, Type Ii

Complex Regional Pain Syndrome Type 2

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

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

Linitis Plastica

Leather-Bottle Stomach

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

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

Sodium Channelopathy-Related Small Fiber Neuropathy
Lymphocele

Lymph Cyst

Lymphocele Adverse Event

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Cardiomyopathy, Hypertrophic, Familial

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
Bos taurus SCN10A VGNC VGNC:34343
Mus musculus SCN10A MGD MGI:108029
Felis catus SCN10A VGNC VGNC:64918
Canis familiaris SCN10A VGNC VGNC:45913
Rattus norvegicus SCN10A RGD RGD:3629
Macaca mulatta SCN10A VGNC VGNC:76980