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)[1] Band 3p22.2 Start 38,548,057 bp[1] End 38,649,687 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F3|9 71.33 cM Start 119,312,474 bp[2] End 119,408,082 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart left ventricle right auricle 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 BioGPS 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 Species Human Mouse Entrez 6331 20271 Ensembl ENSG00000183873 ENSMUSG00000032511 UniProt Q14524 Q9JJV9 RefSeq (mRNA) NM_000335 NM_001099404 NM_001099405 NM_001160160 NM_001160161 NM_198056 NM_001354701 NM_001253860 NM_021544 RefSeq (protein) NP_000326 NP_001092874 NP_001092875 NP_001153632 NP_001153633 NP_932173 NP_001341630 NP_001240789 NP_067519 Location (UCSC) Chr 3: 38.55 – 38.65 Mb Chr 9: 119.31 – 119.41 Mb PubMed search [3] [4]
Wikidata
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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 is associated with mutations in Na_V1.5 (see paragraph genetics). SCN5A is the gene that encodes the cardiac sodium channel Na_V1.5.