CASQ2 [The Human Chemical-Genetic Interaction Map Project]

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======= CASQ2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CASQ2
  * **<color #00a2e8>Official Name</color>**: calsequestrin 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=845|845]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O14958|O14958]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CASQ2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CASQ2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/114251|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats. {ECO:0000269|PubMed:16908766, ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795, ECO:0000269|PubMed:21416293}.

<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'>
|Calsequestrin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sequestering of calcium ion|
|Purkinje myocyte to ventricular cardiac muscle cell signaling|
|Purkinje myocyte to ventricular cardiac muscle cell communication|
|junctional membrane complex|
|junctional sarcoplasmic reticulum membrane|
|sarcoplasmic reticulum lumen|
|cellular response to caffeine|
|negative regulation of ryanodine-sensitive calcium-release channel activity|
|regulation of cell communication by electrical coupling|
|detection of calcium ion|
|cellular response to purine-containing compound|
|negative regulation of release of sequestered calcium ion into cytosol|
|positive regulation of sequestering of calcium ion|
|response to diuretic|
|response to caffeine|
|negative regulation of calcium ion transport into cytosol|
|negative regulation of potassium ion transmembrane transporter activity|
|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|
|calcium channel complex|
|negative regulation of potassium ion transmembrane transport|
|regulation of cardiac muscle contraction by calcium ion signaling|
|regulation of ryanodine-sensitive calcium-release channel activity|
|cell-cell signaling involved in cardiac conduction|
|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|
|negative regulation of calcium-mediated signaling|
|sarcoplasmic reticulum membrane|
|negative regulation of potassium ion transport|
|regulation of membrane repolarization|
|negative regulation of calcium ion transmembrane transporter activity|
|cellular response to alkaloid|
|negative regulation of calcium ion transmembrane transport|
|negative regulation of cation channel activity|
|sarcoplasmic reticulum|
|cell communication involved in cardiac conduction|
|sarcomere organization|
|regulation of potassium ion transmembrane transporter activity|
|negative regulation of calcium ion transport|
|calcium-dependent protein binding|
|myofibril assembly|
|regulation of cardiac conduction|
|negative regulation of ion transmembrane transporter activity|
|regulation of cardiac muscle contraction|
|regulation of release of sequestered calcium ion into cytosol|
|cardiac muscle contraction|
|negative regulation of transporter activity|
|regulation of potassium ion transmembrane transport|
|negative regulation of cation transmembrane transport|
|protein polymerization|
|heart contraction|
|regulation of calcium ion transmembrane transporter activity|
|regulation of striated muscle contraction|
|cardiac conduction|
|negative regulation of ion transmembrane transport|
|regulation of potassium ion transport|
|regulation of heart rate|
|regulation of calcium-mediated signaling|
|regulation of calcium ion transport into cytosol|
|heart process|
|cellular component assembly involved in morphogenesis|
|striated muscle contraction|
|response to alkaloid|
|actomyosin structure organization|
|negative regulation of transmembrane transport|
|regulation of sequestering of calcium ion|
|Z disc|
|striated muscle cell development|
|multicellular organismal signaling|
|calcium-mediated signaling|
|regulation of calcium ion transmembrane transport|
|negative regulation of ion transport|
|muscle cell development|
|response to calcium ion|
|response to purine-containing compound|
|regulation of muscle contraction|
|maintenance of location|
|regulation of cation channel activity|
|cellular response to xenobiotic stimulus|
|striated muscle cell differentiation|
|regulation of muscle system process|
|regulation of heart contraction|
|muscle cell differentiation|
|regulation of calcium ion transport|
|muscle contraction|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|regulation of transporter activity|
|regulation of blood circulation|
|muscle system process|
|response to xenobiotic stimulus|
|regulation of cation transmembrane transport|
|second-messenger-mediated signaling|
|response to metal ion|
|regulation of metal ion transport|
|blood circulation|
|circulatory system process|
|cellular response to drug|
|regulation of membrane potential|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|supramolecular fiber organization|
|cellular divalent inorganic cation homeostasis|
|muscle structure development|
|regulation of ion transmembrane transport|
|negative regulation of transport|
|divalent inorganic cation homeostasis|
|actin cytoskeleton organization|
|negative regulation of intracellular signal transduction|
|detection of chemical stimulus|
|response to inorganic substance|
|cellular response to organic cyclic compound|
|cellular metal ion homeostasis|
|regulation of transmembrane transport|
|actin filament-based process|
|regulation of system process|
|cellular response to organonitrogen compound|
|metal ion homeostasis|
|cellular cation homeostasis|
|cellular ion homeostasis|
|cellular response to nitrogen compound|
|detection of stimulus|
|regulation of ion transport|
|cation homeostasis|
|inorganic ion homeostasis|
|calcium ion binding|
|cellular chemical homeostasis|
|organelle assembly|
|ion homeostasis|
|cellular component morphogenesis|
|cellular protein-containing complex assembly|
|protein homodimerization activity|
|anatomical structure formation involved in morphogenesis|
|cellular homeostasis|
|regulation of cellular localization|
|response to organic cyclic compound|
|ion transmembrane transport|
|response to organonitrogen compound|
|response to drug|
|response to nitrogen compound|
|cytoskeleton organization|
|chemical homeostasis|
|cell-cell signaling|
|negative regulation of molecular function|
|cellular response to endogenous stimulus|
|negative regulation of signal transduction|
|transmembrane transport|
|negative regulation of cell communication|
|negative regulation of signaling|
|ion transport|
|response to endogenous stimulus|
|protein-containing complex assembly|
|negative regulation of response to stimulus|
|homeostatic process|
|cell development|
|intracellular signal transduction|
|regulation of intracellular signal transduction|
|protein-containing complex subunit organization|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 6281
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.81 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CASQ2 Expression in NALM6 Cells: -0.81'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>