KCNQ2 [The Human Chemical-Genetic Interaction Map Project]

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======= KCNQ2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KCNQ2
  * **<color #00a2e8>Official Name</color>**: potassium voltage-gated channel subfamily Q member 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3785|3785]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43526|O43526]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KCNQ2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KCNQ2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602235|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<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|
|Ion trans 2|
|KCNQC3-Ank-G bd|
|KCNQ channel|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|node of Ranvier|
|ankyrin binding|
|axon initial segment|
|delayed rectifier potassium channel activity|
|voltage-gated potassium channel activity|
|voltage-gated potassium channel complex|
|potassium ion transmembrane transport|
|potassium ion transport|
|calmodulin binding|
|monovalent inorganic cation transport|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|trans-synaptic signaling|
|synaptic signaling|
|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|
|cell-cell signaling|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp457|Bisphenol F 50μM R08 exp457]]|-1.75|
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|1.87|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.403|
</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>**: 4201
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.56 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KCNQ2 Expression in NALM6 Cells: -2.56'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>