1. Gene
  2. SCN9A - sodium voltage-gated channel alpha subunit 9 Gene

SCN9A - sodium voltage-gated channel alpha subunit 9 Gene

Homo sapiens

Also known as PN1; ETHA; NENA; SFNP; FEB3B; NE-NA; GEFSP7; HSAN2D; Nav1.7

Gene ID: 6335 | Gene type: protein coding

About SCN9A

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:166,195,185-166,375,987 (from NCBI)

This gene has 13 transcripts (splice variants), 111 orthologues, 26 paralogues and is associated with 12 phenotypes. Broad expression in testis (RPKM 3.8), placenta (RPKM 2.0) and 20 other tissues.

Summary

This gene encodes a voltage-gated Sodium Channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]

SCN9A Products(8)

mRNA Protein Name
XR_001738886.2
NM_002977.3 NP_002968.1 sodium channel protein type 9 subunit alpha isoform 1
XM_017004669.2 XP_016860158.1 sodium channel protein type 9 subunit alpha isoform X4
XM_011511619.3 XP_011509921.1 sodium channel protein type 9 subunit alpha isoform X5
XM_011511616.4 XP_011509918.1 sodium channel protein type 9 subunit alpha isoform X2
XM_011511617.3 XP_011509919.1 sodium channel protein type 9 subunit alpha isoform X1
NM_001365536.1 NP_001352465.1 sodium channel protein type 9 subunit alpha isoform 2
XM_011511618.3 XP_011509920.1 sodium channel protein type 9 subunit alpha isoform X3

SCN9A Protein Structure

Ion_trans

Ion_trans: Ion transport protein (156 - 402)

Na_trans_cytopl

Na_trans_cytopl: Cytoplasmic domain of voltage-gated Na+ ion channel (464 - 695)

Ion_trans

Ion_trans: Ion transport protein (780 - 967)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (983 - 1203)

Ion_trans

Ion_trans: Ion transport protein (1229 - 1457)

Ion_trans

Ion_trans: Ion transport protein (1550 - 1760)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1989 a.a.
Protein Preferred Names Protein Names

sodium channel protein type 9 subunit alpha

hNE-Na

neuroendocrine sodium channel

peripheral sodium channel 1

sodium channel protein type IX subunit alpha

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

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

voltage-gated sodium channel alpha subunit Nav1.7

voltage-gated sodium channel subunit alpha Nav1.7

Related Diseases

Diseases Alias
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

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Fibromyalgia

Diffuse Myofascial Pain Syndrome

Fibromyalgia Syndrome

Fibromyalgia-Fibromyositis Syndrome

Fibromyositis

Fibrositis

Fms

Myofascial Pain Syndrome

Myofascial Pain Syndromes

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

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

Agnosia

Dyspraxia

Primary Visual Agnosia

Dyspraxia Syndrome

Monomodal Visual Amnesia

Visual Amnesia

Agnosia, Primary Visual

Apraxias

Alexia

Glossopharyngeal Neuralgia

Glossopharyngeal Nerve Diseases

Generalized Epilepsy With Febrile Seizures Plus, Type 7

Febrile Seizures, Familial, 3b

GEFSP7

GEFS+7

Generalized Epilepsy With Febrile Seizures Plus 7

Gefs+, Type 7

Generalised Epilepsy With Febrile Seizures Plus 7

Generalised Epilepsy With Febrile Seizures Plus Type 7

Generalized Epilepsy With Febrile Seizures Plus Type 7

FEB3B

Familial Febrile Convulsions 3

Gefs+ Type 7

Epilepsy, Generalized, With Febrile Seizures Plus, Type 7

Generalized Epilepsy With Febrile Seizures Plus, 7

Familial Episodic Pain Syndrome

Feps

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

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

Burning Mouth Syndrome

Orodynia

Stomatodynia

Stomatopyrosis

Bms

Burning Mouth Disorder

Oral Dysesthesia

Sore Mouth Syndrome

Bms - [Burning Mouth Syndrome]

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

Acute Salpingo-Oophoritis

Acute Salpingitis And Oophoritis

Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type

Jequier Kozlowski Skeletal Dysplasia

Smd Kozlowski Type

SMDK

Dysmorphism Arthrogryposis Skeletal Maturation Advanced

Jequier-Kozlowski Syndrome

Skeletal Dysplasia Jequier-Kozlowski Type

Smd, Kozlowski Type

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Trigeminal Nerve Disease

Trigeminal Nerve Diseases

Disorders Of 5th Cranial Nerve

Disorders Of The Fifth Cranial Nerve

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]

Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile

Somatoform Disorder

Physiological Malfunction Arising From Mental Factor

Psychosomatic Disorder

Psychophysiologic Disorders

Erythermalgia, Primary

Small Fiber Neuropathy

Erythromelalgia, Primary

Primary Erythermalgia

Erythromelalgia, Familial

Sfn

Sfnp

Small Nerve Fiber Neuropathy

PERYTHM

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Morvan'S Disease

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

Episodic Pain Syndrome, Familial, 2

FEPS2

Familial Episodic Pain Syndrome 2

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

Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia

Lennox-Gastaut Syndrome

Epileptic Encephalopathy Lennox-Gastaut Type

Lennox Syndrome

Encephalopathy Of Childhood

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Diabetic Neuropathy

Diabetic Neuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Sodium Channelopathy-Related Small Fiber Neuropathy
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

HSAN2B

Hereditary Sensory And Autonomic Neuropathy Type 2b

Hereditary Sensory And Autonomic Neuropathy Type Iib

Neuropathy, Hereditary Sensory And Autonomic, Type 2b

Neuropathy, Hereditary Sensory And Autonomic, 2b

Neuropathy, Sensory And Autonomic, Hereditary, Type Iib

Benign Epilepsy With Centrotemporal Spikes

Benign Rolandic Epilepsy

Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Pain Agnosia

Analgesia

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

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]

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

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Trigeminal Neuralgia

Tic Douloureux

Trifacial Neuralgia

Trifocal Neuralgia

Neuralgia Of The Fifth Cranial Nerve

Neuralgia Of 5th Cranial Nerve

Infraorbital Neuralgia

Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal Dysplasia Maroteaux Type

Pseudo-Morquio Syndrome Type 2

Sed, Maroteaux Type

Brachyolmia Type 2

Pseudo-Morquio Syndrome, Type 2

Spondyloepiphyseal Dysplasia Of Maroteaux

Brachyolmia Maroteaux Type

SEDM

Sed Maroteaux Type

Dysplasia, Spondyloepiphyseal, Maroteaux Type

Neurogenic Arthropathy

Neuropathic Arthropathy

Arthropathy Associated With Neurological Disorder

Charcot'S Arthropathy

Charcot'S Joint

Arthropathy, Neurogenic

Charcot Joint

Charcot Or Tabetic Arthropathy

Charcot Foot

Complex Regional Pain Syndrome

Complex Regional Pain Syndromes

Reflex Sympathetic Dystrophy

Crps

Reflex Sympathetic Dystrophy

Algodystrophy

Complex Regional Pain Syndrome Type 1

Reflex Sympathetic Dystrophy Syndrome

Complex Regional Pain Syndromes

Algodystrophic Syndrome

Migraine, Familial Hemiplegic, 3

FHM3

Familial Hemiplegic Migraine 3

Mhp3

Migraine, Hemiplegic, Familial, Type 3

Chronic Pain
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Hyperkalemic Periodic Paralysis

HYPP

Gamstorp Disease

Gamstorp Episodic Adynamy

Adynamia Episodica Hereditaria With Or Without Myotonia

Familial Hyperkalemic Periodic Paralysis

Hyperkpp

Hyperpp

Adynamia Episodica Hereditaria

Primary Hyperkalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis, Type 2

Sodium Channel Muscle Disease

Familial Hyperpp

Hyperkalemic Pp

Primary Hyperpp

Periodic Paralysis Hyperkalemic

Periodic Paralysis Normokalemic

NKPP

Periodic Paralysis Eukalemic

Paralysis, Hyperkalemic Periodic

Paralysis, Periodic, Hyperkalemic

Potassium Aggravated Myotonia

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Herpes Zoster Oticus

Nervus Intermedius Neuralgia

Geniculate Herpes Zoster

Geniculate Neuralgia

Ramsay Hunt Syndrome Type 2

Herpes Zoster Auricularis

Herpetic Geniculate Ganglionitis

Ramsay Hunt Syndrome Type Ii

Ramsey Hunt Syndrome

Facial Nerve Palsy Due To Vzv

Facial Nerve Palsy Due To Herpes Zoster Infection

Facial Nerve Paralysis Due To Vzv

Hunt Syndrome

Hunt'S Syndrome

Ramsay Hunt Syndrome

Myoclonus And Ataxia

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

Diabetic Polyneuropathy

Diabetes Mellitus With Polyneuropathy

Polyneuropathy In Diabetes

Diabetic Polyneuropathies

Diabetic Neuropathy Nos

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

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

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Macaca mulatta SCN9A VGNC VGNC:76990
Canis familiaris SCN9A VGNC VGNC:45924
Mus musculus SCN9A MGD MGI:107636
Rattus norvegicus SCN9A RGD RGD:69368
Felis catus SCN9A VGNC VGNC:64928
Bos taurus SCN9A VGNC VGNC:34355