SCN4A - sodium voltage-gated channel alpha subunit 4 Gene
Also Known as HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; Na(V)1.4
Species: Homo sapiens
About SCN4A
This gene has 3 transcripts (splice variants), 191 orthologues, 26 paralogues and is associated with 16 phenotypes. Biased expression in fat (RPKM 9.2), thyroid (RPKM 1.5) and 3 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. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
SCN4A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000334.4 | NP_000325.4 | sodium channel protein type 4 subunit alpha |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
30190309 | GOA |
| enables voltage-gated sodium channel activity |
IDA
IDA: Inferred from direct assay
|
12766226 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in regulation of skeletal muscle contraction by action potential |
IMP
IMP: Inferred from mutant phenotype
|
12766226 | GOA |
| involved in sodium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
12766226 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12766226 | GOA |
| part of voltage-gated sodium channel complex |
IDA
IDA: Inferred from direct assay
|
30190309 | GOA |
SCN4A Protein Structure
Ion_trans: Ion transport protein (160 - 446)
Ion_trans: Ion transport protein (614 - 800)
Na_trans_assoc: Sodium ion transport-associated (816 - 1041)
Ion_trans: Ion transport protein (1067 - 1294)
Ion_trans: Ion transport protein (1388 - 1597)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1836 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel protein type 4 subunit alpha |
|
|
SCN4A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SCN4A | P35499 | SCN1B | Homo sapiens | Q07699-1 | 30190309 | |
|
Intra
|
SCN4A | P35499 | SCN1B | Homo sapiens | Q07699-1 | 30190309 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paramyotonia Congenita Of Von Eulenburg |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Metal Metabolism Disorder |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Hyperekplexia 4 |
|
|
| Postsynaptic Congenital Myasthenic Syndromes |
|
|
| Epilepsy |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Dilated Cardiomyopathy |
|
|
| Paroxysmal Extreme Pain Disorder |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Distal Arthrogryposis |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Familial Hemiplegic Migraine |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Peripheral Nervous System Disease |
|
|
| Myasthenic Syndrome, Congenital, 16 |
|
|
| Paine Syndrome |
|
|
| Myasthenic Syndrome, Congenital, 5 |
|
|
| Tremor, Hereditary Essential, 6 |
|
|
| Neuromuscular Junction Disease |
|
|
| Trigeminal Neuralgia |
|
|
| Graves Disease 1 |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Somatoform Disorder |
|
|
| Maxillonasal Dysplasia, Binder Type |
|
|
| Brugada Syndrome |
|
|
| Long Qt Syndrome |
|
|
| Normokalemic Periodic Paralysis |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Episodic Pain Syndrome, Familial, 2 |
|
|
| Spinal Cord Lipoma |
|
|
| Myotonia Congenita |
|
|
| Long Qt Syndrome 1 |
|
|
| Hypokalemia |
|
|
| Long Qt Syndrome 3 |
|
|
| Myotonic Disease |
|
|
| Neuromuscular Disease |
|
|
| Erythromelalgia |
|
|
| Ptosis |
|
|
| Hypokalemic Periodic Paralysis, Type 2 |
|
|
| Periodic Paralysis |
|
|
| Malignant Hyperthermia |
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
|
| Familial Periodic Paralysis |
|
|
| Migraine, Familial Hemiplegic, 3 |
|
|
| Myotonic Dystrophy 2 |
|
|
| Essential Tremor |
|
|
| Myotonia |
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
|
| Endomyocardial Fibrosis |
|
|
| Hyperkalemic Periodic Paralysis |
|
|
| Severe Congenital Neutropenia 4 |
|
|
| Sotos Syndrome |
|
|
| Trigeminal Nerve Disease |
|
|
| Myotonia, Potassium-Aggravated |
|
|
| Sotos Syndrome 1 |
|
|
| Dravet Syndrome |
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Autonomic Nervous System Disease |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SCN4A | VGNC | VGNC:34350 |
| Canis familiaris | SCN4A | VGNC | VGNC:45920 |
| Rattus norvegicus | SCN4A | RGD | RGD:3636 |
| Mus musculus | SCN4A | MGD | MGI:98250 |
| Macaca mulatta | SCN4A | VGNC | VGNC:76986 |
| Felis catus | SCN4A | VGNC | VGNC:64924 |
| Others | SCN4A | NCBI |