Version 5.4
Homo sapiens Gene: SCN4A
Summary
InnateDB Gene IDBG-64440.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCN4A
Gene Name sodium channel, voltage-gated, type IV, alpha subunit
Synonyms HOKPP2; HYKPP; HYPP; Na(V)1.4; NAC1A; Nav1.4; SkM1
Species Homo sapiens
Ensembl Gene ENSG00000007314
Encoded Proteins
IDBP-383406
sodium channel, voltage-gated, type IV, alpha subunit
IDBP-762615
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:63938554-63972918
Strand Reverse strand
Band q23.3
Transcripts
ENST00000435607 ENSP00000396320
ENST00000578147 ENSP00000463963
ENST00000581514
ENST00000584310
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005515 protein binding
Biological Process
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006936 muscle contraction
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0055085 transmembrane transport
GO:0086010 membrane depolarization during action potential
Cellular Component
GO:0001518 voltage-gated sodium channel complex
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001027
View Gene Order
ENSBTAG00000004770
Not yet available
Pathways
NETPATH
REACTOME
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.46038
RefSeq NM_000334 XM_005257566
HUGO
OMIM
CCDS
HPRD 04912
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca