Gene

scn4aa

ID

ZDB-GENE-051201-2

Name

sodium channel, voltage-gated, type IV, alpha, a

Symbol

scn4aa Nomenclature History

Previous Names

zscn3 (1)
Na_v1.4a (1)
Nav1.4a (1)

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

Expression

All Expression Data

5 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Patel et al., 2014
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With scn4aa Human Ortholog

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

Associated With scn4aa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR000048	IQ motif, EF-hand binding site
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