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MIRAGE
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 | ||
| muscle contraction | ||
| sodium ion transmembrane transport | ||
| sodium ion transmembrane transport | ||
| cardiac muscle cell action potential involved in contraction |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated sodium channel complex | ||
| voltage-gated sodium channel complex | ||
| plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated sodium channel activity | ||
| voltage-gated sodium channel activity | ||
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- sodium channel protein
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081354 | congenital myopathy 22A | |
| DOID:0081355 | congenital myopathy 22B | |
| DOID:0110682 | congenital myasthenic syndrome 16 | |
| DOID:0111538 | paramyotonia congenita of Von Eulenburg | |
| DOID:14451 | hyperkalemic periodic paralysis |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 32158 | SGD:S000003449 | ||
| 32619 | Xenbase:XB-GENE-982767 | ||
| 34950 | SGD:S000003449 | ||
| 37981 | SGD:S000003449 | ||
| 54652 | SGD:S000003449 | ||
| 56827 | SGD:S000003449 | ||
| 78956 | SGD:S000003449 | ||
| 81574 | SGD:S000003449 | ||
| 110876 | SGD:S000003449 | ||
| 110880 | Xenbase:XB-GENE-982767 | MOUSE06123 |
