Homo sapiens Gene: SCN5A
Summary
InnateDB Gene IDBG-26059.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCN5A
Gene Name sodium channel, voltage-gated, type V, alpha subunit
Synonyms CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1;
Species Homo sapiens
Ensembl Gene ENSG00000183873
Encoded Proteins
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
sodium channel, voltage-gated, type V, alpha subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
SCN5A is a novel pathogen sensor that initiates anti-viral signalling and transcription through ADCY8 and ATF2.
Entrez Gene
Summary The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:38548057-38649673
Strand Reverse strand
Band p22.2
Transcripts
ENST00000333535 ENSP00000328968
ENST00000327956 ENSP00000333674
ENST00000414099 ENSP00000398962
ENST00000425664 ENSP00000416634
ENST00000443581 ENSP00000397915
ENST00000451551 ENSP00000388797
ENST00000413689 ENSP00000410257
ENST00000423572 ENSP00000398266
ENST00000455624 ENSP00000399524
ENST00000450102 ENSP00000403355
ENST00000449557 ENSP00000413996
ENST00000464652
ENST00000491944
ENST00000476683
ENST00000612060 ENSP00000479016
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0017134 fibroblast growth factor binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030506 ankyrin binding
GO:0031625 ubiquitin protein ligase binding
GO:0044325 ion channel binding
GO:0050998 nitric-oxide synthase binding
GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential
GO:0086063 voltage-gated sodium channel activity involved in regulation of SA node cell action potential
GO:0097110 scaffold protein binding
Biological Process
GO:0002027 regulation of heart rate
GO:0003231 cardiac ventricle development
GO:0003360 brainstem development
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0010765 positive regulation of sodium ion transport
GO:0014070 response to organic cyclic compound
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0019228 neuronal action potential
GO:0021537 telencephalon development
GO:0021549 cerebellum development
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045087 innate immune response (InnateDB)
GO:0045760 positive regulation of action potential
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051899 membrane depolarization
GO:0055085 transmembrane transport
GO:0060048 cardiac muscle contraction
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0071277 cellular response to calcium ion
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086010 membrane depolarization during action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086046 membrane depolarization involved in regulation of SA node cell action potential
GO:0086067 AV node cell to bundle of His cell communication
GO:0086069 bundle of His cell to Purkinje myocyte communication
GO:0086070 SA node cell to atrial cardiac muscle cell communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:1902305 regulation of sodium ion transmembrane transport
Cellular Component
GO:0001518 voltage-gated sodium channel complex
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0009986 cell surface
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0030315 T-tubule
GO:0034706 sodium channel complex
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
Axon guidance pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.517898 Hs.614295
RefSeq NM_000335 NM_001099404 NM_001099405 NM_001160160 NM_001160161 NM_198056 XM_006713282 XM_006713283 XM_006713284
HUGO
OMIM
CCDS CCDS46796 CCDS46797 CCDS46798 CCDS46799 CCDS54569 CCDS54570
HPRD 02543
IMGT
EMBL
GenPept
RNA Seq Atlas