ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 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 act upstream of or within monoatomic ion transmembrane transport and sodium ion transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in several structures, including gill; heart; mesoderm; musculature system; and nervous system. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; congenital myopathy 22A; congenital myopathy 22B; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. 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 | Additional Resources | 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 | InterPro | 1835 | ||||||
| UniProtKB:Q20JQ7 | InterPro | 1784 | ||||||
| UniProtKB:A0AB32TKK4 | InterPro | 1835 |
- Genome Browsers
| 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
- Genome Browsers