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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
CRRD ID: 731255
Description: Exhibits several functions, including ankyrin binding activity; enzyme binding activity; and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. Involved in several processes, including regulation of heart contraction; regulation of ion transport; and regulation of membrane depolarization. Localizes to several cellular components, including Z disc; nuclear lumen; and voltage-gated sodium channel complex. Implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Biomarker of arrhythmogenic right ventricular cardiomyopathy.
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)
Chlorocebus sabaeus (African green monkey) : SCN5A (sodium voltage-gated channel alpha subunit 5)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38.p13 Ensembl338,548,057 - 38,649,687 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl338,548,057 - 38,649,673 (-)EnsemblGRCh38hg38GRCh38
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