Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Cell membrane Multi-pass membrane protein Cytoplasm, perinuclear region Note=RANGRF promotes trafficking to the cell membrane. |
Domain |
PF00520 Ion transport protein PF06512 Sodium ion transport-associated PF11933 Cytoplasmic domain of voltage-gated Na+ ion channel |
Function |
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na(+) channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138). |
Biological Process |
GO:0001508 action potential GO:0002027 regulation of heart rate GO:0002028 regulation of sodium ion transport GO:0003012 muscle system process GO:0003013 circulatory system process GO:0003015 heart process GO:0003205 cardiac chamber development GO:0003231 cardiac ventricle development GO:0003254 regulation of membrane depolarization GO:0003360 brainstem development GO:0006814 sodium ion transport GO:0006936 muscle contraction GO:0006937 regulation of muscle contraction GO:0006941 striated muscle contraction GO:0006942 regulation of striated muscle contraction GO:0007507 heart development GO:0008015 blood circulation GO:0008016 regulation of heart contraction GO:0010035 response to inorganic substance GO:0010038 response to metal ion GO:0010765 positive regulation of sodium ion transport GO:0010959 regulation of metal ion transport GO:0014854 response to inactivity GO:0014870 response to muscle inactivity GO:0014874 response to stimulus involved in regulation of muscle adaptation GO:0014877 response to muscle inactivity involved in regulation of muscle adaptation GO:0014894 response to denervation involved in regulation of muscle adaptation GO:0015672 monovalent inorganic cation transport GO:0019226 transmission of nerve impulse GO:0019228 neuronal action potential GO:0021537 telencephalon development GO:0021549 cerebellum development GO:0022037 metencephalon development GO:0030048 actin filament-based movement GO:0030900 forebrain development GO:0030902 hindbrain development GO:0032844 regulation of homeostatic process GO:0032970 regulation of actin filament-based process GO:0034762 regulation of transmembrane transport GO:0034765 regulation of ion transmembrane transport GO:0035637 multicellular organismal signaling GO:0035725 sodium ion transmembrane transport GO:0042391 regulation of membrane potential GO:0042475 odontogenesis of dentin-containing tooth GO:0042476 odontogenesis GO:0043270 positive regulation of ion transport GO:0043502 regulation of muscle adaptation GO:0044057 regulation of system process GO:0045760 positive regulation of action potential GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050679 positive regulation of epithelial cell proliferation GO:0051592 response to calcium ion GO:0051899 membrane depolarization GO:0055117 regulation of cardiac muscle contraction GO:0060047 heart contraction GO:0060048 cardiac muscle contraction GO:0060078 regulation of postsynaptic membrane potential GO:0060306 regulation of membrane repolarization GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization GO:0061337 cardiac conduction GO:0070252 actin-mediated cell contraction GO:0071241 cellular response to inorganic substance GO:0071248 cellular response to metal ion GO:0071277 cellular response to calcium ion GO:0086001 cardiac muscle cell action potential GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086003 cardiac muscle cell contraction GO:0086004 regulation of cardiac muscle cell contraction GO:0086005 ventricular cardiac muscle cell action potential GO:0086009 membrane repolarization GO:0086010 membrane depolarization during action potential GO:0086012 membrane depolarization during cardiac muscle cell action potential GO:0086015 SA node cell action potential GO:0086016 AV node cell action potential GO:0086017 Purkinje myocyte action potential GO:0086018 SA node cell to atrial cardiac muscle cell signalling GO:0086019 cell-cell signaling involved in cardiac conduction GO:0086027 AV node cell to bundle of His cell signaling GO:0086028 bundle of His cell to Purkinje myocyte signaling GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086043 bundle of His cell action potential GO:0086045 membrane depolarization during AV node cell action potential GO:0086046 membrane depolarization during SA node cell action potential GO:0086047 membrane depolarization during Purkinje myocyte cell action potential GO:0086048 membrane depolarization during bundle of His cell action potential GO:0086065 cell communication involved in cardiac conduction GO:0086067 AV node cell to bundle of His cell communication GO:0086068 Purkinje myocyte to ventricular cardiac muscle cell communication GO:0086069 bundle of His cell to Purkinje myocyte communication GO:0086070 SA node cell to atrial cardiac muscle cell communication GO:0086091 regulation of heart rate by cardiac conduction GO:0090257 regulation of muscle system process GO:0098900 regulation of action potential GO:0099622 cardiac muscle cell membrane repolarization GO:0099623 regulation of cardiac muscle cell membrane repolarization GO:0099624 atrial cardiac muscle cell membrane repolarization GO:0099625 ventricular cardiac muscle cell membrane repolarization GO:1902305 regulation of sodium ion transmembrane transport GO:1903115 regulation of actin filament-based movement GO:1903522 regulation of blood circulation GO:1904062 regulation of cation transmembrane transport GO:2000021 regulation of ion homeostasis |
Molecular Function |
GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005248 voltage-gated sodium channel activity GO:0005261 cation channel activity GO:0005272 sodium channel activity GO:0005516 calmodulin binding GO:0015077 monovalent inorganic cation transmembrane transporter activity GO:0015081 sodium ion transmembrane transporter activity GO:0015267 channel activity GO:0017134 fibroblast growth factor binding GO:0019838 growth factor binding GO:0022803 passive transmembrane transporter activity GO:0022832 voltage-gated channel activity GO:0022836 gated channel activity GO:0022838 substrate-specific channel activity GO:0030506 ankyrin binding GO:0031625 ubiquitin protein ligase binding GO:0044325 ion channel binding GO:0044389 ubiquitin-like protein ligase binding GO:0046873 metal ion transmembrane transporter activity GO:0050998 nitric-oxide synthase binding GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086060 voltage-gated sodium channel activity involved in AV node cell action potential GO:0086061 voltage-gated sodium channel activity involved in bundle of His cell action potential GO:0086062 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086063 voltage-gated sodium channel activity involved in SA node cell action potential GO:0097110 scaffold protein binding GO:1905030 voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential |
Cellular Component |
GO:0001518 voltage-gated sodium channel complex GO:0005901 caveola GO:0014704 intercalated disc GO:0016328 lateral plasma membrane GO:0030016 myofibril GO:0030017 sarcomere GO:0030018 Z disc GO:0030315 T-tubule GO:0031674 I band GO:0034702 ion channel complex GO:0034703 cation channel complex GO:0034706 sodium channel complex GO:0042383 sarcolemma GO:0043292 contractile fiber GO:0044291 cell-cell contact zone GO:0044449 contractile fiber part GO:0044853 plasma membrane raft GO:0045121 membrane raft GO:0098589 membrane region GO:0098857 membrane microdomain GO:1902495 transmembrane transporter complex GO:1990351 transporter complex |
KEGG |
hsa04261 Adrenergic signaling in cardiomyocytes |
Reactome |
R-HSA-422475: Axon guidance R-HSA-5576891: Cardiac conduction R-HSA-1266738: Developmental Biology R-HSA-445095: Interaction between L1 and Ankyrins R-HSA-373760: L1CAM interactions R-HSA-397014: Muscle contraction R-HSA-5576892: Phase 0 - rapid depolarisation |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between SCN5A and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of SCN5A in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of SCN5A in various data sets.
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Points in the above scatter plot represent the mutation difference of SCN5A in various data sets.
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Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of SCN5A. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of SCN5A. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by SCN5A. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of SCN5A. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of SCN5A expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between SCN5A and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
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Symbol | SCN5A |
Name | sodium channel, voltage gated, type V alpha subunit |
Aliases | Nav1.5; LQT3; HBBD; PFHB1; IVF; CDCD2; ICCD; long QT syndrome 3; CMD1E; sodium channel, voltage-gated, type ...... |
Chromosomal Location | 3p21 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting SCN5A collected from DrugBank database. |
Details on drugs targeting SCN5A.
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