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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
sodium voltage-gated channel alpha subunit 4
Summary
- Gene Symbol
-
- SCN4A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cell membrane
- Congenital myasthenic syndrome
- Disease variant
- Disulfide bond
- Glycoprotein
- Phosphoprotein
- Reference proteome
- Repeat
- Sodium channel
- Transmembrane helix
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| P35499 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| sodium ion transport | ||
| cardiac muscle cell action potential involved in contraction | ||
| muscle contraction | ||
| regulation of skeletal muscle contraction by action potential | ||
| sodium ion transmembrane transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated sodium channel complex | ||
| plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| voltage-gated sodium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- sodium channel alpha subunit
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Ion transport domain |
| Voltage-dependent channel domain superfamily |
| Voltage-gated cation channel calcium and sodium |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060170 | generalized epilepsy with febrile seizures plus | |
| DOID:0080422 | Dravet syndrome | |
| DOID:0081354 | congenital myopathy 22A | |
| DOID:0081355 | congenital myopathy 22B | |
| DOID:0110682 | congenital myasthenic syndrome 16 | |
| DOID:0111294 | generalized epilepsy with febrile seizures plus 2 | |
| DOID:0111538 | paramyotonia congenita of Von Eulenburg | |
| DOID:14451 | hyperkalemic periodic paralysis | |
| DOID:14452 | hypokalemic periodic paralysis | |
| DOID:1826 | epilepsy |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 116817879 | CHEAB27109 | |||
| 117013663 | RHIFE07846 | |||
| 118886958 | BALMU10297 | |||
| 119873250 | CANLF18560 | |||
| 122206756 | PANLE04721 | |||
| 123803095 | URSAM06505 | |||
| 129017957 | 9600_0:0042eb |
