SCN7A - sodium voltage-gated channel alpha subunit 7 Gene

Homo sapiens

Also known as NaG; SCN6A; Nav2.1; Nav2.2

Gene ID: 6332 | Gene type: protein coding

About SCN7A

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:166,403,573-166,494,249 (from NCBI)

This gene has 6 transcripts (splice variants), 85 orthologues and 26 paralogues. Broad expression in ovary (RPKM 21.8), lung (RPKM 14.7) and 15 other tissues.

Summary

This gene encodes one of the many voltage-gated Sodium Channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This Sodium Channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous Sodium Channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other Sodium Channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]

SCN7A Products(1)

mRNA	Protein	Name
NM_002976.4	NP_002967.2	sodium channel protein type 7 subunit alpha

SCN7A Protein Structure

Ion_trans

Na_trans_assoc

Ion_trans

0
300
600
900
1200
1500
1682 a.a.

Protein Preferred Names

Protein Names

sodium channel protein type 7 subunit alpha

putative voltage-gated sodium channel subunit alpha Nax

Related Diseases

Diseases

Alias

Normokalemic Periodic Paralysis

Normokalemic Periodic Paralysis, Potassium-Sensitive

Erythromelalgia

Primary Erythromelalgia	Erythermalgia
Primary Erythermalgia	Mitchell Disease
Familial Erythromelalgia

Hypokalemic Periodic Paralysis, Type 2

HOKPP2	Periodic Paralysis Hypokalemic 2
Paralysis, Hypokalemic, Periodic, Type 2

Myotonia

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis	Hokpp
Hypopp	Westphall Disease
HOKPP1	Familial Hypokalemic Periodic Paralysis
Familial Periodic Paralysis	Westphal Disease
Hypokalemic Periodic Paralysis Type 1	Hypokalemic Familial Periodic Paralysis
Periodic Hypokalemic Paralysis	Periodic Paralysis I
Hypokpp	Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1	Paralysis, Hypokalemic, Periodic
Paralysis, Hypokalemic, Periodic, Type 1

Developmental And Epileptic Encephalopathy 54

DEE54	Epileptic Encephalopathy, Early Infantile, 54
Eiee54	Developmental And Epileptic Encephalopathy, 54
Early Infantile Epileptic Encephalopathy 54	Encephalopathy, Epileptic, Early Infantile, Type 54

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

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

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

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

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]

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12544	SCN7A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SCN7A	VGNC	VGNC:64926
Rattus norvegicus	SCN7A	RGD	RGD:61922
Mus musculus	SCN7A	MGD	MGI:102965
Macaca mulatta	SCN7A	VGNC	VGNC:76988
Canis familiaris	SCN7A	VGNC	VGNC:45922
Bos taurus	SCN7A	VGNC	VGNC:34353

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