SCN11A - sodium voltage-gated channel alpha subunit 11 Gene

Also Known as NaN; PN5; FEPS3; HSAN7; SNS-2; NAV1.9; SCN12A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11280

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	12384689	GOA
enables voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	24036948	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane depolarization during action potential	IDA IDA: Inferred from direct assay	12384689	GOA
involved in membrane depolarization during action potential	IMP IMP: Inferred from mutant phenotype	24036948	GOA
involved in sensory perception of pain	IMP IMP: Inferred from mutant phenotype	24036948	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in plasma membrane	IDA IDA: Inferred from direct assay	12384689	GOA
is active in plasma membrane	IMP IMP: Inferred from mutant phenotype	24036948	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SCN11A Protein Structure

Ion_trans

Na_trans_assoc

Ion_trans

0
300
600
900
1200
1500
1791 a.a.

Protein Preferred Names	Protein Names
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

Related Diseases

Diseases	Alias
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12522	SCN11A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12523	Scn11a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12524	Scn11a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990502	Anti-SCN11a/Nav1.9 Antibody	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SCN11A	NCBI