SCN7A - sodium voltage-gated channel alpha subunit 7 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 6332

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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence 参考文献 由来
enables sodium channel activity IMP
IMP: Inferred from mutant phenotype
26537257 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in sodium ion homeostasis IMP
IMP: Inferred from mutant phenotype
26537257 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

SCN7A Protein Structure

Ion_trans

Ion_trans: Ion transport protein (147 - 392)

Ion_trans

Ion_trans: Ion transport protein (540 - 728)

Na_trans_assoc

Na_trans_assoc: Sodium ion transport-associated (743 - 941)

Ion_trans

Ion_trans: Ion transport protein (970 - 1192)

Ion_trans

Ion_trans: Ion transport protein (1285 - 1495)

  • 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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12544 SCN7A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SCN7A NCBI