Gene
scn4ab
- ID
- ZDB-GENE-051201-1
- Name
- sodium channel, voltage-gated, type IV, alpha, b
- Symbol
- scn4ab Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 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 several structures, including gill; heart; mesoderm; musculature system; and nervous system. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 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 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:A0A2C9F1K3
|
1835 | ||||||
|
UniProtKB:Q20JQ7
|
1784 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
scn4ab-201
(1)
|
Ensembl | 7,240 nt | ||
| mRNA |
scn4ab-202
(1)
|
Ensembl | 7,646 nt | ||
| mRNA |
scn4ab-203
(1)
|
Ensembl | 7,680 nt |
Interactions and Pathways
No data available
Plasmids
No data available