1. Gene
  2. SCN11A - sodium voltage-gated channel alpha subunit 11 Gene

SCN11A - sodium voltage-gated channel alpha subunit 11 Gene

中文名称:钠电压门控通道 α 亚基 11

种属: Homo sapiens

同用名: NaN; PN5; FEPS3; HSAN7; SNS-2; NAV1.9; SCN12A

基因 ID: 11280 | 基因类型: protein coding

关于 SCN11A

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,845,764-39,051,944 (from NCBI)

This gene has 14 transcripts (splice variants), 96 orthologues, 26 paralogues and is associated with 10 phenotypes. Biased expression in spleen (RPKM 1.9), placenta (RPKM 0.6) and 13 other tissues.

功能概要

电压门控钠通道是由具有 24 个跨膜结构域的大 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α亚基基因家族的一个成员,在背根神经节和三叉神经节的伤害性神经元中高表达。它介导脑源性神经营养因子诱发的膜去极化,是外周炎性疼痛超敏反应的主要效应物。该基因的突变与 VII 型遗传性感觉和自主神经病以及家族性发作性疼痛综合征 3 相关。可变剪接导致多个转录本变体。[RefSeq 提供,2017 年 3 月]

Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains 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 alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

SCN11A 基因产物(9)

mRNA Protein Name
XM_011533321.3 XP_011531623.1 sodium channel protein type 11 subunit alpha isoform X4
NM_001349253.2 NP_001336182.1 sodium channel protein type 11 subunit alpha
NM_014139.3 NP_054858.2 sodium channel protein type 11 subunit alpha
XM_017005650.2 XP_016861139.1 sodium channel protein type 11 subunit alpha isoform X2
XM_017005653.2 XP_016861142.1 sodium channel protein type 11 subunit alpha isoform X5
NR_164473.1
NM_001287223.1
XM_017005651.2 XP_016861140.1 sodium channel protein type 11 subunit alpha isoform X3
XM_047447378.1 XP_047303334.1 sodium channel protein type 11 subunit alpha isoform X1
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 voltage-gated sodium channel activity IDA
IDA: 通过直接分析推断
12384689 GOA
enables voltage-gated sodium channel activity IMP
IMP: 通过突变表型推断
24036948 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in membrane depolarization during action potential IDA
IDA: 通过直接分析推断
12384689 GOA
involved in membrane depolarization during action potential IMP
IMP: 通过突变表型推断
24036948 GOA
involved in sensory perception of pain IMP
IMP: 通过突变表型推断
24036948 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
12384689 GOA
is active in plasma membrane IMP
IMP: 通过突变表型推断
24036948 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

SCN11A 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (161 - 399)

Ion_trans

Ion_trans: Ion transport protein (612 - 809)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (827 - 1066)

Ion_trans

Ion_trans: Ion transport protein (1093 - 1307)

Ion_trans

Ion_trans: Ion transport protein (1401 - 1603)

  • 0
  • 300
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  • 1500
  • 1791 a.a.
蛋白主名 其他名称

sodium channel protein type 11 subunit alpha

peripheral nerve sodium channel 5

sensory neuron sodium channel 2

sodium channel protein type XI subunit alpha

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

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

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

voltage-gated sodium channel subunit alpha Nav1.9

关联疾病

疾病名称 别名
Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8

Hsan Viii

Hereditary Sensory And Autonomic Neuropathy Type 8

Hereditary Sensory And Autonomic Neuropathy Type Viii

Neuropathy, Hereditary Sensory And Autonomic, 8

Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Trigeminal Neuralgia

Tic Douloureux

Trifacial Neuralgia

Trifocal Neuralgia

Neuralgia Of The Fifth Cranial Nerve

Neuralgia Of 5th Cranial Nerve

Infraorbital Neuralgia

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type I

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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]

Pain Agnosia

Analgesia

Somatoform Disorder

Physiological Malfunction Arising From Mental Factor

Psychosomatic Disorder

Psychophysiologic Disorders

Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Sodium Channelopathy-Related Small Fiber Neuropathy
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Episodic Pain Syndrome, Familial, 2

FEPS2

Familial Episodic Pain Syndrome 2

Severe Congenital Neutropenia 8

Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities

Scn8

Sdsl

Shwachman-Diamond Syndrome-Like

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7

HSAN7

Hereditary Sensory And Autonomic Neuropathy Type Vii

Hsan Vii

Cip With Hyperhidrosis And Gastrointestinal Dysfunction

Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Hereditary Sensory And Autonomic, 7

Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Diabetic Neuropathy

Diabetic Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5

Hereditary Sensory And Autonomic Neuropathy Type V

Hsan V

Hereditary Sensory And Autonomic Neuropathy Type 5

Congenital Insensitivity To Pain

Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

Hsan Type V

Insensitivity To Pain, Congenital

Hereditary Sensory And Autonomic Neuropathy, Type 5

Congenital Insensitivity To Pain And Thermal Analgesia

Neuropathy, Hereditary Sensory And Autonomic, 5

Hereditary Sensory Neuropathy Type V

Hsn V

Pain Insensitivity, Congenital

Neuropathy, Sensory And Autonomic, Hereditary, Type V

Hereditary Sensory Autonomic Neuropathy, Type 5

Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Complex Regional Pain Syndrome

Complex Regional Pain Syndromes

Reflex Sympathetic Dystrophy

Crps

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Reflex Sympathetic Dystrophy

Algodystrophy

Complex Regional Pain Syndrome Type 1

Reflex Sympathetic Dystrophy Syndrome

Complex Regional Pain Syndromes

Algodystrophic Syndrome

Familial Episodic Pain Syndrome

Feps

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

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita

PMC

Paralysis Periodica Paramyotonica

Eulenburg Disease

Myotonia Congenita Intermittens

Von Eulenburg Paramyotonia Congenita

Paralysis Periodica Paramyotonia

Von Eulenberg'S Disease

Paramyotonia Congenita Without Cold Paralysis

Eulenburg Syndrome

Paramyotonia

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

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

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

Agnosia

Dyspraxia

Primary Visual Agnosia

Dyspraxia Syndrome

Monomodal Visual Amnesia

Visual Amnesia

Agnosia, Primary Visual

Apraxias

Alexia

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Trigeminal Nerve Disease

Trigeminal Nerve Diseases

Disorders Of 5th Cranial Nerve

Disorders Of The Fifth Cranial Nerve

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

Autonomic Peripheral Neuropathy

Peripheral Autonomic Nervous System Diseases

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

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

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

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

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Generalized Epilepsy With Febrile Seizures Plus, Type 2

Febrile Seizures, Familial, 3a

GEFSP2

GEFS+2

Generalized Epilepsy With Febrile Seizures Plus 2

Gefs+, Type 2

Generalised Epilepsy With Febrile Seizures Plus 2

Generalised Epilepsy With Febrile Seizures Plus Type 2

Generalized Epilepsy With Febrile Seizures Plus Type 2

FEB3A

Familial Febrile Convulsions 3

Gefs+ Type 2

Epilepsy, Generalized, With Febrile Seizures Plus, Type 2

Febrile Convulsions, Familial, 3a

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]

Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

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
Canis familiaris SCN11A VGNC VGNC:45914
Felis catus SCN11A VGNC VGNC:64919
Mus musculus SCN11A MGD MGI:1345149
Macaca mulatta SCN11A VGNC VGNC:76981
Bos taurus SCN11A VGNC VGNC:34344
Rattus norvegicus SCN11A RGD RGD:3630