SCN5A
Gene Information
- Official Symbol: SCN5A
- Official Name: sodium voltage-gated channel alpha subunit 5
- Aliases and Previous Symbols: N/A
- Entrez ID: 6331
- UniProt: Q14524
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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 autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| Ion trans |
| PKD channel |
| Na trans assoc |
| DUF3451 |
GO Terms
| voltage-gated sodium channel activity involved in SA node cell action potential |
| voltage-gated sodium channel activity involved in bundle of His cell action potential |
| voltage-gated sodium channel activity involved in AV node cell action potential |
| voltage-gated sodium channel activity involved in Purkinje myocyte action potential |
| Purkinje myocyte action potential |
| membrane depolarization during Purkinje myocyte cell action potential |
| membrane depolarization during atrial cardiac muscle cell action potential |
| membrane depolarization during bundle of His cell action potential |
| membrane depolarization during SA node cell action potential |
| bundle of His cell to Purkinje myocyte signaling |
| bundle of His cell action potential |
| membrane depolarization during AV node cell action potential |
| Purkinje myocyte to ventricular cardiac muscle cell signaling |
| voltage-gated sodium channel activity involved in cardiac muscle cell action potential |
| Purkinje myocyte to ventricular cardiac muscle cell communication |
| regulation of atrial cardiac muscle cell membrane repolarization |
| regulation of ventricular cardiac muscle cell membrane depolarization |
| AV node cell action potential |
| brainstem development |
| AV node cell to bundle of His cell signaling |
| SA node cell action potential |
| SA node cell to atrial cardiac muscle cell signaling |
| regulation of atrial cardiac muscle cell membrane depolarization |
| SA node cell to atrial cardiac muscle cell communication |
| response to muscle inactivity involved in regulation of muscle adaptation |
| positive regulation of action potential |
| response to denervation involved in regulation of muscle adaptation |
| response to muscle inactivity |
| AV node cell to bundle of His cell communication |
| bundle of His cell to Purkinje myocyte communication |
| atrial cardiac muscle cell to AV node cell signaling |
| response to inactivity |
| nitric-oxide synthase binding |
| atrial cardiac muscle cell action potential |
| voltage-gated sodium channel complex |
| response to stimulus involved in regulation of muscle adaptation |
| atrial cardiac muscle cell to AV node cell communication |
| membrane depolarization during cardiac muscle cell action potential |
| voltage-gated sodium channel activity |
| ankyrin binding |
| ventricular cardiac muscle cell action potential |
| fibroblast growth factor binding |
| regulation of ventricular cardiac muscle cell membrane repolarization |
| regulation of cardiac muscle cell membrane repolarization |
| cell-cell signaling involved in cardiac conduction |
| neuronal action potential |
| membrane depolarization during action potential |
| positive regulation of sodium ion transport |
| regulation of membrane repolarization |
| regulation of cardiac muscle cell contraction |
| regulation of heart rate by cardiac conduction |
| cardiac muscle cell action potential involved in contraction |
| regulation of actin filament-based movement |
| cardiac muscle cell contraction |
| T-tubule |
| voltage-gated ion channel activity |
| regulation of membrane depolarization |
| cell communication involved in cardiac conduction |
| intercalated disc |
| cardiac muscle cell action potential |
| regulation of action potential |
| membrane depolarization |
| transmission of nerve impulse |
| lateral plasma membrane |
| scaffold protein binding |
| regulation of sodium ion transmembrane transport |
| caveola |
| regulation of cardiac muscle contraction |
| cardiac muscle contraction |
| odontogenesis of dentin-containing tooth |
| cellular response to calcium ion |
| regulation of muscle adaptation |
| regulation of sodium ion transport |
| heart contraction |
| actin-mediated cell contraction |
| sodium ion transmembrane transport |
| regulation of striated muscle contraction |
| cardiac conduction |
| action potential |
| regulation of heart rate |
| sarcolemma |
| heart process |
| cerebellum development |
| striated muscle contraction |
| actin filament-based movement |
| metencephalon development |
| odontogenesis |
| ion channel binding |
| cardiac ventricle development |
| Z disc |
| multicellular organismal signaling |
| response to calcium ion |
| hindbrain development |
| sodium ion transport |
| regulation of muscle contraction |
| cardiac chamber development |
| positive regulation of epithelial cell proliferation |
| cellular response to metal ion |
| calmodulin binding |
| cellular response to inorganic substance |
| regulation of muscle system process |
| regulation of heart contraction |
| protein domain specific binding |
| muscle contraction |
| telencephalon development |
| positive regulation of ion transport |
| regulation of blood circulation |
| ubiquitin protein ligase binding |
| axon |
| muscle system process |
| regulation of cation transmembrane transport |
| regulation of epithelial cell proliferation |
| enzyme binding |
| response to metal ion |
| regulation of metal ion transport |
| forebrain development |
| regulation of actin filament-based process |
| blood circulation |
| circulatory system process |
| monovalent inorganic cation transport |
| regulation of membrane potential |
| protein kinase binding |
| regulation of ion transmembrane transport |
| heart development |
| response to inorganic substance |
| inorganic cation transmembrane transport |
| regulation of transmembrane transport |
| actin filament-based process |
| regulation of system process |
| cation transmembrane transport |
| cell surface |
| metal ion transport |
| inorganic ion transmembrane transport |
| perinuclear region of cytoplasm |
| regulation of ion transport |
| brain development |
| head development |
| ion homeostasis |
| cation transport |
| circulatory system development |
| positive regulation of cell population proliferation |
| ion transmembrane transport |
| animal organ morphogenesis |
| central nervous system development |
| positive regulation of transport |
| regulation of cellular component movement |
| endoplasmic reticulum |
| chemical homeostasis |
| cell-cell signaling |
| transmembrane transport |
| ion transport |
| nervous system process |
| movement of cell or subcellular component |
| regulation of cell population proliferation |
| homeostatic process |
| regulation of transport |
| system process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| GSK-J4 1.5μM R08 exp441 | -1.99 |
| PU-H71 1μM R08 exp515 | -1.9 |
| IU1-C 25μM R04 exp183 | -1.77 |
| Sulforaphane 9μM R08 exp526 no dilution day6 | -1.76 |
| Staurosporine 0.02μM R08 exp524 | -1.74 |
| RS-1 10μM R08 exp519 | 1.74 |
| MS094 2μM R03 exp136 | 2.01 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 13795
- Expression level (log2 read counts): 0.38
Expression Distribution
SCN5A Expression in NALM6 Cells: 0.38
