Gene
scn8ab
- ID
- ZDB-GENE-060906-2
- Name
- sodium channel, voltage gated, type VIII, alpha subunit b
- Symbol
- scn8ab Nomenclature History
- Previous Names
-
- zscn1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have voltage-gated sodium channel activity. Predicted to be involved in membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to localize to axon and voltage-gated sodium channel complex. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and early infantile epileptic encephalopathy 13. Is expressed in heart and nervous system. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Osorio-Méndez et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
benign familial infantile seizures 5 | Alliance | Seizures, benign familial infantile, 5 | 617080 |
developmental and epileptic encephalopathy 13 | Alliance | Developmental and epileptic encephalopathy 13 | 614558 |
Cognitive impairment with or without cerebellar ataxia | 614306 | ||
?Myoclonus, familial, 2 | 618364 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR005821 | Ion transport domain |
Domain | IPR010526 | Sodium ion transport-associated domain |
Domain | IPR024583 | Voltage-gated Na+ ion channel, cytoplasmic domain |
Domain | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
Family | IPR001696 | Voltage gated sodium channel, alpha subunit |
Family | IPR008054 | Voltage gated sodium channel, alpha-8 subunit |
Family | IPR043203 | Voltage-gated cation channel calcium and sodium |
Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
Domain Details Per Protein
Protein | Length | Ion transport domain | Sodium ion transport-associated domain | Voltage-dependent channel domain superfamily | Voltage-gated cation channel calcium and sodium | Voltage-gated Na+ ion channel, cytoplasmic domain | Voltage gated sodium channel, alpha-8 subunit | Voltage gated sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3ATI6
|
1958 | ||||||||
UniProtKB:A0A8M2BDE6
|
1969 | ||||||||
UniProtKB:A0A8M9QAH6
|
1969 | ||||||||
UniProtKB:Q20JQ3
|
1958 | ||||||||
UniProtKB:A0A8M2BDI5
|
1958 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
scn8ab-201
(1)
|
Ensembl | 5877 nt | |
mRNA |
scn8ab-202
(1)
|
Havana | 6036 nt |
Interactions and Pathways
No data available
Plasmids
No data available