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QuickView for SCN5A (gene)


Gene Symbol:
SCN5A Homo sapiens Homo sapiens
Full name:
sodium channel, voltage-gated, type V, alpha subunit
Synonyms:
Nav1.5, PFHB1, LQT3, HB1, HB2, HBBD, HH1, IVF, ICCD, CDCD2, cardiac sodium channel alpha subunit, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, CMD1E, CMPD2, sodium channel protein cardiac muscle subunit alpha, sodium channel protein type 5 subunit alpha, sodium channel protein type V alpha subunit, sodium channel, voltage-gated, type V, alpha subunit, SSS1, VF1, voltage-gated sodium channel subunit alpha Nav1.5, voltage-gated sodium channel type V alpha
Genomic Location:
Chr 3: 38564557-38666167
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 autoso...
Orthologs:
Mus musculus Rattus norvegicus Bos taurus Gallus gallus Canis lupus familiaris Pan troglodytes
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Unknown transcription factor binding site geneset 2 MYOD1 binding site geneset 1 TCF3 binding site geneset 1 MYB binding site geneset 1 Unknown transcription factor binding site geneset 3 TAL1 binding site geneset 1 TAL1 binding site geneset 2 TCF3 binding site geneset 2 Unknown transcription factor binding site geneset 19 EGR3 binding site geneset 1
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 3
3p21





GO Molecular Function

voltage-gated ion channel activity | passive transmembrane transporter activity | voltage-gated sodium channel activity | transmembrane transporter activity | binding | ion channel binding | cytoskeletal protein binding | cation transmembrane transporter activity | transporter activity | ion transmembrane transporter activity | gated channel activity | voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential | scaffold protein binding | substrate-specific transmembrane transporter activity | ankyrin binding | protein binding | metal ion transmembrane transporter activity | voltage-gated cation channel activity | sodium ion transmembrane transporter activity | sodium channel activity | cation channel activity | substrate-specific transporter activity | inorganic cation transmembrane transporter activity | monovalent inorganic cation transmembrane transporter activity | voltage-gated channel activity | channel activity | calmodulin binding | ion channel activity | substrate-specific channel activity

GO Biological Process

regulation of muscle system process | regulation of biological process | regulation of ventricular cardiac muscle cell membrane repolarization | heart process | regulation of localization | regulation of sodium ion transport | regulation of ventricular cardiac muscle cell membrane depolarization | establishment of localization | regulation of biological quality | response to metal ion | membrane depolarization involved in regulation of action potential | cellular chemical homeostasis | voltage-gated ion channel activity | multicellular organismal signaling | cellular process | localization | cellular homeostasis | passive transmembrane transporter activity | metal ion transport | cellular response to chemical stimulus | response to inorganic substance | regulation of system process | regulation of cellular process | membrane repolarization involved in regulation of action potential | membrane depolarization involved in regulation of cardiac muscle cell action potential | voltage-gated sodium channel activity | transmembrane transporter activity | heart contraction | regulation of ventricular cardiac muscle cell action potential | cellular response to metal ion | regulation of atrial cardiac muscle cell membrane repolarization | muscle contraction | response to stimulus | regulation of transmembrane transport | response to chemical stimulus | transport | regulation of cardiac muscle cell contraction | regulation of heart rate | cellular response to inorganic substance | regulation of metal ion transport | blood circulation | regulation of cardiac muscle cell membrane potential | regulation of membrane potential | regulation of muscle contraction | ion transmembrane transport | SA node cell to atrial cardiac muscle cell communication | sodium ion transport | cation transmembrane transporter activity | regulation of membrane depolarization | cellular ion homeostasis | monovalent inorganic cation transport | single-organism process | transporter activity | regulation of cellular component movement | regulation of cardiac muscle cell action potential involved in contraction | ion transmembrane transporter activity | bundle of His cell to Purkinje myocyte communication | gated channel activity | voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential | biological regulation | substrate-specific transmembrane transporter activity | regulation of heart contraction | positive regulation of biological process | regulation of striated muscle contraction | cell communication | regulation of atrial cardiac muscle cell membrane depolarization | regulation of cardiac muscle contraction | system process | homeostatic process | positive regulation of transport | striated muscle contraction | regulation of heart rate by cardiac conduction | cellular response to calcium ion | regulation of ion homeostasis | metal ion transmembrane transporter activity | regulation of multicellular organismal process | voltage-gated cation channel activity | regulation of homeostatic process | circulatory system process | AV node cell to bundle of His cell communication | cell communication involved in cardiac conduction | chemical homeostasis | membrane depolarization | cellular response to stimulus | sodium ion transmembrane transport | positive regulation of ion transport | positive regulation of sodium ion transport | membrane repolarization involved in regulation of cardiac muscle cell action potential | ion homeostasis | sodium ion transmembrane transporter activity | regulation of ion transmembrane transport | sodium channel activity | cation channel activity | membrane repolarization | substrate-specific transporter activity | transmembrane transport | regulation of action potential | signaling | inorganic cation transmembrane transporter activity | monovalent inorganic cation transmembrane transporter activity | voltage-gated channel activity | cation transport | channel activity | regulation of ion transport | regulation of transport | regulation of cardiac muscle cell action potential | single-multicellular organism process | single organism signaling | response to calcium ion | ion channel activity | regulation of actin filament-based process | ion transport | cardiac muscle contraction | substrate-specific channel activity | regulation of membrane repolarization | muscle system process | cardiac conduction | multicellular organismal process

GO Cellular Component

intercalated disc | integral to membrane | voltage-gated sodium channel complex | intracellular membrane-bounded organelle | sarcolemma | plasma membrane part | cell | intrinsic to membrane | cytoplasm | intracellular organelle | endoplasmic reticulum | cell-cell junction | cell-cell contact zone | macromolecular complex | plasma membrane | membrane raft | membrane part | integral to plasma membrane | T-tubule | cell part | membrane-bounded organelle | organelle | sodium channel complex | cell periphery | cytoplasmic part | cation channel complex | ion channel complex | cell surface | intracellular part | intracellular | cell junction | caveola | membrane | protein complex | intrinsic to plasma membrane