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MIRAGE
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
- Proteomics identification
- Reference proteome
- Repeat
- Sodium channel
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UQD0 |
|
| Q6B4S4 |
|
| A0A590UK43 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| action potential |
|
|
| action potential |
|
|
| monoatomic ion transport |
|
|
| ion transport |
|
|
| sodium ion transport |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated sodium channel complex |
|
|
| voltage-gated sodium channel complex |
|
|
| voltage-gated sodium channel complex |
|
|
| voltage-gated sodium channel complex |
|
|
| voltage-gated sodium channel complex |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ion channel activity |
|
|
| monoatomic ion channel activity |
|
|
| voltage-gated sodium channel activity |
|
|
| voltage-gated sodium channel activity |
|
|
| voltage-gated sodium channel activity |
|
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:0080445 | developmental and epileptic encephalopathy 13 | |
| DOID:0081118 | benign familial infantile seizures 5 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 20273 | MGI:103169 | |
| 29710 | RGD:3638 | |
| 32619 | FB:FBgn0285944 |
