SCN5A Gene Summary [Human]
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 have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
Details
| Type | Protein Coding |
| Official Symbol | SCN5A |
| Official Name | sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593] |
| Ensembl ID | ENSG00000183873 |
| Bio databases IDs | |
| Aliases | sodium voltage-gated channel alpha subunit 5, long QT syndrome 3 |
| Synonyms | Cardiac sodium channel alpha subunit, Cardiac sodium channel α subunit, CDCD2, CMD1E, CMPD2, H1 α, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, mH1, NaV1.5, Nav1.5c, PFHB1, RATRSKM2X, rSkM2, RSKM2X, SCAL, Scn2x, SkM1, SkM2, sodium channel, voltage-gated, type V, alpha, sodium channel, voltage-gated, type V, α, sodium voltage-gated channel alpha subunit 5, sodium voltage-gated channel α subunit 5, SSS1, TETRODOTOXIN-INSENSITIVE NA+ CHANNEL, VF1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SCN5A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- paired EF hand domain
- ubiquitin protein ligase binding
- Cytoplasmic domain of voltage-gated Na+ ion channel
- protein kinase binding
- Ion transport protein
- calmodulin binding
- enzyme binding
- linker domain
- protein domain specific binding
- protein binding
- ion channel
- Sodium ion transport-associated
- voltage-gated sodium channel
- ankyrin binding
- fibroblast growth factor binding
- cytoplasmic loop
- ligand-binding domain
- IQ domain
- ion channel binding
- loop domain
- GTP binding motif, P-loop
- PDZ binding motif
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the SCN5A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ventricular tachycardia
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- breast cancer
- knee osteoarthritis
- insulin-dependent diabetes mellitus
- obesity
- cancer
- infection
- respiratory failure
role in cell
- expression in
- growth
- activation in
- apoptosis
- proliferation
- migration
- depolarization
- invasiveness
- response by
- phagocytosis by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- membrane surface
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- intercellular junctions
- caveolae
- lateral plasma membrane
- nucleoplasm
- nucleoli
- intercalated disks
- sarcolemma
- Z line
- late endosomes
- transverse tubules
- Golgi vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCN5A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of atrial cardiac muscle cell action potential
- membrane depolarization involved in regulation of cardiac muscle cell action potential
- telencephalon development
- regulation of SA node cardiac muscle cell action potential
- regulation of AV node cardiac muscle cell action potential
- regulation of ventricular cardiomyocyte membrane repolarization
- odontogenesis of dentin-containing tooth
- cardiac ventricle development
- cardiac muscle contraction
- sodium ion transport
- cellular response to calcium ion
- positive regulation of epithelial cell proliferation
- regulation of bundle of His cardiac muscle cell action potential
- regulation of cardiac muscle cell action potential involved in contraction
- membrane depolarization involved in regulation of SA node cardiac muscle cell action potential
- response to denervation involved in regulation of muscle adaptation
- membrane depolarization involved in regulation of Purkinje myocyte cell action potential
- membrane depolarization involved in regulation of AV node cardiac muscle cell action potential
- AV node cell to bundle of His cell communication
- regulation of atrial cardiomyocyte membrane depolarization
- cerebellum development
- regulation of atrial cardiomyocyte membrane repolarization
- regulation of cardiac muscle cell contraction
- membrane depolarization involved in regulation of bundle of His cardiac muscle cell action potential
- regulation of ventricular cardiomyocyte membrane depolarization
- regulation of ventricular cardiac muscle cell action potential
- cardiac conduction system development
- brainstem development
- regulation of heart rate
- positive regulation of action potential
- positive regulation of sodium ion transport
- sodium ion transmembrane transport
- regulation of heart rate by cardiac conduction
- membrane depolarization
- membrane depolarization involved in regulation of action potential
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- endoplasmic reticulum
- nucleolus
- plasma membrane
- cell surface
- nucleoplasm
- T-tubule
- Z disc
- caveola
- perinuclear region of cytoplasm
- sarcolemma
- membrane
- intercalated disc
- voltage-gated sodium channel complex
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein domain specific binding
- voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential
- ion channel binding
- voltage-gated sodium channel activity
- scaffold protein binding
- calmodulin binding
- protein binding
- ubiquitin protein ligase binding
- ankyrin binding
- voltage-gated sodium channel activity involved in regulation of AV node cardiac muscle cell action potential
- voltage-gated sodium channel activity involved in regulation of bundle of His cardiac muscle cell action potential
- fibroblast growth factor binding
- nitric-oxide synthase binding
- voltage-gated sodium channel activity involved in regulation of Purkinje myocyte action potential
- voltage-gated sodium channel activity involved in regulation of SA node cardiac muscle cell action potential
- enzyme binding