Homo Sapiens
SCN2A - Sodium Voltage-gated Channel Alpha Subunit 2
Alias:
EA9
HBA
NAC2
BFIC3
BFIS3
BFNIS
DEE11
HBSCI
EIEE11
HBSCII
Nav1.2
SCN2A1
SCN2A2
Na(v)1.2
FDA approved drug targets
Human disease related genes
Transporters
Voltage-gated ion channels
Basic Information
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
SCN2A Genetics information (Positive Sense)
- Chr
Sequence Homology
Humans, mice, and rats have highly similar genes, making them important for disease research and drug development. By studying their gene relationships, researchers can develop effective treatments for both humans and animals. Gene homology among these organisms allows for the translation of animal experimental results to humans, improving disease treatment and prevention.
Orthologs:
No Orthologs
Disease & Mutation
The fundamental building blocks of an organism's genetic code are its genes. The biological qualities and functions are determined by the genetic instructions they contain. On the other hand, genetic mutations, or differences in their sequence, can result in aberrant protein activity, which impacts cellular function and eventually causes illness. Consequently, thorough investigation into the connection between genetic abnormalities and illnesses is essential for both therapy and prevention. Knowing the genetic abnormalities causing certain diseases can aid in the development of targeted therapies, enhance patients' quality of life, and perhaps lead to the disease's cure.
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Disease
Anatomical category
Score
Count
Transcripts & Proteins
Transcripts are RNA molecules that are created during DNA transcription, and the translation products of these transcripts are proteins that serve numerous roles in the body. Transcripts and proteins are both important in biological research. The research of transcripts can help us uncover the subtle links between genes and illnesses, whereas the study of proteins can help us understand the processes of cellular function and disease etiology, as well as give prospective treatment targets.
Table View
Tile View
#
Transcript
Length(nt)
Exon count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
The level of gene activity in a particular tissue or cell can be identified by its expression. Understanding the physiological processes and disease causes of organisms depends heavily on the specificity of gene expression levels in various tissues or cells. A thorough examination of the tissue and cell specificity of gene expression will contribute to the understanding of the genetic basis of disease and offer novel approaches to both prevent and cure disease.
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Protein-protein interaction is when two or more proteins bind together to perform their functions. It plays a vital role in most biochemical processes, such as signal molecules transmitting signals between cells. Molecular machines within the cells perform important functions through protein-protein interactions.
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
Name
CAS Number
Status
Phase
Group
Mechanism of Action
Link
References
Within the biological sciences, gene-related research literature is a valuable and essential resource. They meticulously document the composition, operation, and interaction of genes, giving us important hints to solve the enigmas surrounding life.
Title
PMID
Journal
Year
IF
Comparison
BioGPT