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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
sodium voltage-gated channel alpha subunit 8
Summary
- Gene Symbol
-
- SCN8A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell junction
- Cell membrane
- Cell projection
- Cytoplasmic vesicle
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Intellectual disability
- Ion channel
- Phosphoprotein
- Reference proteome
- Repeat
- Sodium channel
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| optic nerve development | ||
| action potential | ||
| sodium ion transport | ||
| myelination | ||
| cardiac muscle cell action potential involved in contraction |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell junction | ||
| cytoplasmic vesicle | ||
| membrane | ||
| postsynaptic density membrane | ||
| parallel fiber to Purkinje cell synapse |
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:0050709 | early infantile epileptic encephalopathy | |
| DOID:0060170 | generalized epilepsy with febrile seizures plus | |
| DOID:0080422 | Dravet syndrome | |
| DOID:0080445 | developmental and epileptic encephalopathy 13 | |
| DOID:0081118 | benign familial infantile seizures 5 | |
| DOID:0111294 | generalized epilepsy with febrile seizures plus 2 | |
| DOID:1826 | epilepsy | |
| DOID:6000 | congestive heart failure |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 100663952 | LOXAF19351 | |||
| 100703813 | ORENI35978 | |||
| 100764200 | CRIGR23061 | |||
| 100930723 | SARHA16916 | |||
| 100979577 | 9597_0:003656 | PANPA09377 | ||
| 101018366 | PAPAN41014 | |||
| 101037969 | SAIBB31294 | |||
| 101096578 | FELCA16979 | |||
| 101113744 | SHEEP14304 | |||
| 101145382 | 9595_0:00376d | GORGO05998 |
