CCM2 [The Human Chemical-Genetic Interaction Map Project]

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======= CCM2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CCM2
  * **<color #00a2e8>Official Name</color>**: CCM2 scaffold protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=83605|83605]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BSQ5|Q9BSQ5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CCM2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCM2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607929|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|blood vessel endothelial cell differentiation|
|venous blood vessel morphogenesis|
|endothelial tube morphogenesis|
|morphogenesis of an endothelium|
|venous blood vessel development|
|pericardium development|
|endothelial cell development|
|vasculogenesis|
|endothelial cell differentiation|
|multicellular organism growth|
|integrin-mediated signaling pathway|
|endothelium development|
|stress-activated MAPK cascade|
|cell-cell junction organization|
|stress-activated protein kinase signaling cascade|
|epithelial cell development|
|inner ear development|
|cell junction organization|
|ear development|
|epithelial tube morphogenesis|
|MAPK cascade|
|in utero embryonic development|
|developmental growth|
|growth|
|signal transduction by protein phosphorylation|
|blood vessel morphogenesis|
|morphogenesis of an epithelium|
|blood vessel development|
|vasculature development|
|cardiovascular system development|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|protein-containing complex|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|epithelial cell differentiation|
|tube development|
|circulatory system development|
|protein phosphorylation|
|embryo development|
|epithelium development|
|mitochondrion|
|phosphorylation|
|cell development|
|intracellular signal transduction|
|cellular response to stress|
|tissue development|
</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:exp330|5-Azacytidine 2μM R07 exp330]]|-3.3|
|[[:results:exp214|2-Deoxy-D-glucose 800μM R05 exp214]]|-3.14|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|-2.41|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|-2.35|
|[[:results:exp474|CR131-b 0.005μM R08 exp474]]|-2.23|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|-2.22|
|[[:results:exp450|Artemisinin 50μM R08 exp450]]|-2.18|
|[[:results:exp512|Olaparib 4μM R08 exp512]]|-2.18|
|[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|-2.14|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|-2.14|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|-2.12|
|[[:results:exp38|Wortmannin 5μM R00 exp38]]|-2.09|
|[[:results:exp443|SNS-032 15μM R08 exp443]]|-2.04|
|[[:results:exp436|Dynasore 7μM R08 exp436]]|-2.01|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-1.94|
|[[:results:exp435|JQ1 0.8μM R08 exp435]]|-1.94|
|[[:results:exp134|MS023 2μM R03 exp134]]|-1.9|
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|-1.85|
|[[:results:exp355|Dinaciclib 0.007μM R07 exp355]]|-1.84|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-1.83|
|[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|-1.81|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|-1.77|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-1.77|
|[[:results:exp29|Rapamycin 1μM R00 exp29]]|-1.7|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|1.7|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|1.74|
|[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|1.79|
|[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|1.86|
|[[:results:exp64|Nocodazole 0.2μM R02 exp64]]|1.88|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:m:mesdc1|MESDC1]]|0.55|
|[[:human genes:p:pdcd10|PDCD10]]|0.51|
|[[:human genes:k:krit1|KRIT1]]|0.467|
</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>**: 6942
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.64 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CCM2 Expression in NALM6 Cells: 4.64'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>