SCN5A

SCN5A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KBI, 2L53, 4DCK, 4DJC, 4JQ0, 4OVN
Identifiers
Aliases	SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, sodium voltage-gated channel alpha subunit 5
External IDs	OMIM: 600163; MGI: 98251; HomoloGene: 22738; GeneCards: SCN5A; OMA:SCN5A - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	38,649,687 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	119,408,082 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; left ventricle; ; right auricle of heart; ; myocardium of left ventricle; ; right ventricle; ; cardiac muscle tissue of right atrium; ; testicle; ; gonad; ; secondary oocyte; ; sural nerve;
	Top expressed in
	myocardium of ventricle; ; atrium; ; Meckel's cartilage; ; right ventricle; ; rib; ; olfactory epithelium; ; scapula; ; cardiac muscles; ; atrioventricular valve; ; endothelial cell of lymphatic vessel;
	More reference expression data
	n/a
Gene ontology
Molecular function	nitric-oxide synthase binding; transmembrane transporter binding; protein domain specific binding; voltage-gated sodium channel activity involved in AV node cell action potential; voltage-gated sodium channel activity involved in bundle of His cell action potential; sodium channel activity; voltage-gated sodium channel activity involved in SA node cell action potential; voltage-gated ion channel activity; ion channel activity; voltage-gated sodium channel activity involved in Purkinje myocyte action potential; protein binding; ankyrin binding; enzyme binding; fibroblast growth factor binding; voltage-gated sodium channel activity involved in cardiac muscle cell action potential; scaffold protein binding; protein kinase binding; ubiquitin protein ligase binding; voltage-gated sodium channel activity; calmodulin binding;
Cellular component	voltage-gated sodium channel complex; integral component of membrane; lateral plasma membrane; membrane; intercalated disc; T-tubule; intracellular anatomical structure; cell surface; Z discdkac; endoplasmic reticulum; caveola; sarcolemma; plasma membrane; cytoplasm; perinuclear region of cytoplasm; axon;
Biological process	regulation of atrial cardiac muscle cell membrane repolarization; cellular response to calcium ion; membrane depolarization during AV node cell action potential; regulation of ventricular cardiac muscle cell membrane depolarization; membrane depolarization during Purkinje myocyte cell action potential; membrane depolarization during bundle of His cell action potential; membrane depolarization during action potential; cardiac muscle contraction; sodium ion transmembrane transport; sodium ion transport; positive regulation of epithelial cell proliferation; SA node cell action potential; brainstem development; cardiac ventricle development; regulation of atrial cardiac muscle cell membrane depolarization; membrane depolarization; ventricular cardiac muscle cell action potential; bundle of His cell action potential; cardiac muscle cell action potential involved in contraction; regulation of ion transmembrane transport; ion transport; cerebellum development; regulation of heart rate; odontogenesis of dentin-containing tooth; positive regulation of action potential; regulation of cardiac muscle cell contraction; telencephalon development; AV node cell to bundle of His cell communication; transmembrane transport; positive regulation of sodium ion transport; membrane depolarization during SA node cell action potential; response to denervation involved in regulation of muscle adaptation; regulation of sodium ion transmembrane transport; AV node cell action potential; regulation of heart rate by cardiac conduction; membrane depolarization during cardiac muscle cell action potential; neuronal action potential; regulation of ventricular cardiac muscle cell membrane repolarization; atrial cardiac muscle cell action potential; membrane depolarization during atrial cardiac muscle cell action potential; cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
	6331
	20271
	ENSG00000183873
	ENSMUSG00000032511
	Q14524
	Q9JJV9
NM_000335; NM_001099404; NM_001099405; NM_001160160; NM_001160161;
	NM_198056; NM_001354701
	NM_001253860; NM_021544
NP_000326; NP_001092874; NP_001092875; NP_001153632; NP_001153633;
	NP_932173; NP_001341630
	NP_001240789; NP_067519
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium channel protein type 5 subunit alpha, also known as Na_V1.5 is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. Na_V1.5 is found primarily in cardiac muscle, where it mediates the fast influx of Na⁺-ions (I_Na) across the cell membrane, resulting in the fast depolarization phase of the cardiac action potential. As such, it plays a major role in impulse propagation through the heart. A vast number of cardiac diseases are associated with mutations in Na_V1.5 (see paragraph genetics). SCN5A is the gene that encodes the cardiac sodium channel Na_V1.5.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183873 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032511 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183873 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032511 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

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