SCN8A [The Human Chemical-Genetic Interaction Map Project]

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======= SCN8A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SCN8A
  * **<color #00a2e8>Official Name</color>**: sodium voltage-gated channel alpha subunit 8
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6334|6334]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UQD0|Q9UQD0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SCN8A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SCN8A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600702|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Ion trans|
|Na trans assoc|
|DUF3451|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|voltage-gated sodium channel complex|
|node of Ranvier|
|voltage-gated sodium channel activity|
|axon initial segment|
|neuronal action potential|
|membrane depolarization during action potential|
|voltage-gated ion channel activity|
|membrane depolarization|
|transmission of nerve impulse|
|peripheral nervous system development|
|sodium ion transmembrane transport|
|action potential|
|myelination|
|ensheathment of neurons|
|axon ensheathment|
|Z disc|
|multicellular organismal signaling|
|sodium ion transport|
|cytoplasmic vesicle|
|axon|
|monovalent inorganic cation transport|
|regulation of membrane potential|
|regulation of ion transmembrane transport|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|cation transport|
|ion transmembrane transport|
|transmembrane transport|
|ion transport|
|nervous system process|
|ATP binding|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp348|Cyclosporin-A 3μM R07 exp348]]|-2.15|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|-2.06|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|-1.72|
|[[:results:exp490|Hydroxychloroquine 30μM R08 exp490]]|1.85|
|[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|1.86|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6236
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.87 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SCN8A Expression in NALM6 Cells: 1.87'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>