Gene
scn4aa
- ID
- ZDB-GENE-051201-2
- Name
- sodium channel, voltage-gated, type IV, alpha, a
- Symbol
- scn4aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 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 congenital myasthenic syndrome 16; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Is expressed in heart; musculature system; nervous system; pectoral fin; and testis. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Patel et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myasthenic syndrome 16 | Alliance | Myasthenic syndrome, congenital, 16 | 614198 |
congenital myopathy 22A | Alliance | Congenital myopathy 22A, classic | 620351 |
congenital myopathy 22B | Alliance | Congenital myopathy 22B, severe fetal | 620369 |
hyperkalemic periodic paralysis | Alliance | Hyperkalemic periodic paralysis | 170500 |
hypokalemic periodic paralysis | Alliance | Hypokalemic periodic paralysis, type 2 | 613345 |
paramyotonia congenita of Von Eulenburg | Alliance | Paramyotonia congenita | 168300 |
Myotonia congenita, atypical, acetazolamide-responsive | 608390 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR005821 | Ion transport domain |
Domain | IPR010526 | Sodium ion transport-associated domain |
Domain | IPR044564 | Voltage-gated sodium channel alpha subunit, inactivation gate |
Family | IPR001696 | Voltage gated sodium channel, alpha 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 sodium channel, alpha subunit | Voltage-gated sodium channel alpha subunit, inactivation gate |
---|---|---|---|---|---|---|---|
UniProtKB:A0A0R4IJX4
|
1829 | ||||||
UniProtKB:Q2XVR3
|
1829 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
scn4aa-201
(1)
|
Havana | 5559 nt |
Interactions and Pathways
No data available
Plasmids
No data available