SCN5A (sodium voltage-gated channel alpha subunit 5) - Rat Genome Database

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Gene: SCN5A (sodium voltage-gated channel alpha subunit 5) Homo sapiens
Symbol: SCN5A
Name: sodium voltage-gated channel alpha subunit 5
RGD ID: 731255
HGNC Page HGNC:10593
Description: Enables 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 cardiac muscle cell membrane repolarization; regulation of heart contraction; and regulation of sodium ion transport. Located in several cellular components, including T-tubule; Z disc; and nuclear lumen. Is integral component of membrane. Part of 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
Previously 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
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38338,548,062 - 38,649,687 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl338,548,057 - 38,649,687 (-)EnsemblGRCh38hg38GRCh38
GRCh37338,589,553 - 38,691,178 (-)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
T2T-CHM13v2.0338,554,106 - 38,661,891 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)