Version 5.4
Homo sapiens Gene: SCN2A
Summary
InnateDB Gene IDBG-74003.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCN2A
Gene Name sodium channel, voltage-gated, type II, alpha subunit
Synonyms BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2
Species Homo sapiens
Ensembl Gene ENSG00000136531
Encoded Proteins
IDBP-73976
sodium channel, voltage-gated, type II, alpha subunit
IDBP-74007
sodium channel, voltage-gated, type II, alpha subunit
IDBP-74011
sodium channel, voltage-gated, type II, alpha subunit
IDBP-387162
sodium channel, voltage-gated, type II, alpha subunit
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 heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:165239402-165392308
Strand Forward strand
Band q24.3
Transcripts
ENST00000375437 ENSP00000364586
ENST00000375427 ENSP00000364576
ENST00000283256 ENSP00000283256
ENST00000424833 ENSP00000406454
ENST00000480032
ENST00000486878
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [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:0007399 nervous system development
GO:0008627 intrinsic apoptotic signaling pathway in response to osmotic stress
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042552 myelination
GO:0051402 neuron apoptotic process
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:0014704 intercalated disc
GO:0016020 membrane
GO:0030315 T-tubule
GO:0030424 axon
GO:0031226 intrinsic component of plasma membrane
GO:0033268 node of Ranvier
GO:0033270 paranode region of axon
GO:0034706 sodium channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000075318
View Gene Order
ENSBTAG00000038180
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 Q99250
TrEMBL A8K0U1 F8T7W7
UniProt Splice Variant
Entrez Gene 6326
UniGene Hs.611634 Hs.93485
RefSeq NM_001040142 NM_001040143 NM_021007 XM_005246750 XM_005246751 XM_005246753 XM_005246754 XM_005246755 XM_005246756
HUGO HGNC:10588
OMIM 182390
CCDS CCDS33313 CCDS33314
HPRD
IMGT
EMBL AC011303 AC013438 AF059683 AF327226 AF327227 AF327228 AF327229 AF327230 AF327231 AF327232 AF327233 AF327234 AF327235 AF327236 AF327237 AF327238 AF327239 AF327240 AF327241 AF327242 AF327243 AF327244 AF327245 AF327246 AK289656 HQ726798 M55662 M91804 M94055 X65361
GenPept AAA18895 AAB65854 AAC14574 AAG53412 AAG53413 AAY14971 AEJ07965 BAF82345 CAA46438
RNA Seq Atlas 6326

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