======= SCN2A =======
== Gene Information ==
* **Official Symbol**: SCN2A
* **Official Name**: sodium voltage-gated channel alpha subunit 2
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6326|6326]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q99250|Q99250]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=SCN2A&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SCN2A|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/182390|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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].
* **UniProt Summary**: 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. {ECO:0000269|PubMed:1325650, ECO:0000269|PubMed:17021166, ECO:0000269|PubMed:28256214}.
|Na trans assoc|
|DUF3451|
|Ion trans|
|intrinsic apoptotic signaling pathway in response to osmotic stress|
|sodium channel complex|
|paranode region of axon|
|voltage-gated sodium channel complex|
|node of Ranvier|
|voltage-gated sodium channel activity|
|neuronal action potential|
|membrane depolarization during action potential|
|cellular response to osmotic stress|
|intrinsic component of plasma membrane|
|T-tubule|
|voltage-gated ion channel activity|
|neuron apoptotic process|
|intercalated disc|
|membrane depolarization|
|neuron death|
|transmission of nerve impulse|
|integral component of presynaptic membrane|
|response to osmotic stress|
|sodium ion transmembrane transport|
|action potential|
|myelination|
|axon ensheathment|
|ensheathment of neurons|
|memory|
|multicellular organismal signaling|
|intrinsic apoptotic signaling pathway|
|sodium ion transport|
|cellular response to hypoxia|
|cellular response to decreased oxygen levels|
|cellular response to oxygen levels|
|learning or memory|
|apoptotic signaling pathway|
|axon|
|cognition|
|cellular response to environmental stimulus|
|cellular response to abiotic stimulus|
|response to hypoxia|
|glutamatergic synapse|
|response to decreased oxygen levels|
|response to oxygen levels|
|monovalent inorganic cation transport|
|regulation of membrane potential|
|regulation of ion transmembrane transport|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|behavior|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|cation transport|
|apoptotic process|
|ion transmembrane transport|
|programmed cell death|
|cell death|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|intracellular signal transduction|
|cellular response to stress|
|regulation of transport|
|system process|
|membrane|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp501|Methotrexate 0.01μM R08 exp501]]|-1.86|
No correlation found to any other genes in chemogenomics.
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**: 17424
* **Expression level (log2 read counts)**: -1.16
{{:chemogenomics:nalm6 dist.png?nolink |}}