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Gene: SCN5A (sodium voltage-gated channel alpha subunit 5) Homo sapiens
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Symbol: SCN5A
Name: sodium voltage-gated channel alpha subunit 5
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cardiac sodium channel alpha subunit; cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit; cardiomyopathy, dilated 1E (autosomal dominant); CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; sodium channel protein cardiac muscle subunit alpha; sodium channel protein type 5 subunit alpha; sodium channel protein type V alpha subunit; sodium channel protein type V subunit alpha; sodium channel, voltage gated, type V alpha subunit; sodium channel, voltage-gated, type V, alpha subunit; SSS1; VF1; voltage-gated sodium channel subunit alpha Nav1.5
Orthologs:
Mus musculus (house mouse) : Scn5a (sodium channel, voltage-gated, type V, alpha)  MGI  Alliance
Rattus norvegicus (Norway rat) : Scn5a (sodium voltage-gated channel alpha subunit 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Scn5a (sodium voltage-gated channel alpha subunit 5)
Pan paniscus (bonobo/pygmy chimpanzee) : SCN5A (sodium voltage-gated channel alpha subunit 5)
Canis lupus familiaris (dog) : SCN5A (sodium voltage-gated channel alpha subunit 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Scn5a (sodium voltage-gated channel alpha subunit 5)
Sus scrofa (pig) : SCN5A (sodium voltage-gated channel alpha subunit 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38338,548,061 - 38,649,687 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37338,589,553 - 38,691,164 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36338,564,557 - 38,666,167 (-)NCBINCBI36hg18NCBI36
Build 34338,564,557 - 38,666,167NCBI
Cytogenetic Map3p22.2NCBI
HuRef338,631,798 - 38,733,467 (-)NCBIHuRef
CHM1_1338,541,190 - 38,642,759 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model