======= CCM2 ======= == Gene Information == * **Official Symbol**: CCM2 * **Official Name**: CCM2 scaffold protein * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=83605|83605]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9BSQ5|Q9BSQ5]] * **Interactions**: [[https://thebiogrid.org/search.php?search=CCM2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCM2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/607929|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: N/A No Pfam Domain information is available for this gene. |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| \\ === CRISPR Data === ^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| ^Gene^Correlation^ |[[:human genes:m:mesdc1|MESDC1]]|0.55| |[[:human genes:p:pdcd10|PDCD10]]|0.51| |[[:human genes:k:krit1|KRIT1]]|0.467| 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**: 6942 * **Expression level (log2 read counts)**: 4.64 {{:chemogenomics:nalm6 dist.png?nolink |}}