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Ask your administrator if you think this is wrong. ======= CCBE1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CCBE1 * **<color #00a2e8>Official Name</color>**: collagen and calcium binding EGF domains 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=147372|147372]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6UXH8|Q6UXH8]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CCBE1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCBE1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612753|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]. * **<color #00a2e8>UniProt Summary</color>**: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. {ECO:0000269|PubMed:19935664}. <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'> |EGF CA| |Collagen| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of lymphangiogenesis| |regulation of lymphangiogenesis| |positive regulation of vascular endothelial growth factor signaling pathway| |venous blood vessel morphogenesis| |lymphangiogenesis| |respiratory system process| |venous blood vessel development| |lymph vessel morphogenesis| |regulation of vascular endothelial growth factor signaling pathway| |regulation of cellular response to vascular endothelial growth factor stimulus| |lymph vessel development| |positive regulation of protein processing| |positive regulation of protein maturation| |positive regulation of vascular endothelial growth factor production| |regulation of vascular endothelial growth factor production| |respiratory gaseous exchange by respiratory system| |sprouting angiogenesis| |collagen trimer| |collagen binding| |regulation of protein processing| |regulation of protein maturation| |positive regulation of endothelial cell migration| |protease binding| |positive regulation of epithelial cell migration| |regulation of endothelial cell migration| |positive regulation of angiogenesis| |lung development| |respiratory tube development| |positive regulation of vasculature development| |respiratory system development| |regulation of epithelial cell migration| |extracellular matrix| |regulation of cellular response to growth factor stimulus| |regulation of angiogenesis| |angiogenesis| |regulation of vasculature development| |positive regulation of proteolysis| |blood vessel morphogenesis| |positive regulation of cytokine production| |blood vessel development| |positive regulation of cell migration| |vasculature development| |cardiovascular system development| |positive regulation of cell motility| |positive regulation of cellular component movement| |positive regulation of locomotion| |tube morphogenesis| |regulation of cytokine production| |calcium ion binding| |regulation of proteolysis| |tube development| |regulation of cell migration| |circulatory system development| |anatomical structure formation involved in morphogenesis| |regulation of cell motility| |regulation of locomotion| |regulation of cellular component movement| |regulation of anatomical structure morphogenesis| |positive regulation of developmental process| |extracellular space| |positive regulation of cellular protein metabolic process| |positive regulation of signal transduction| |positive regulation of protein metabolic process| |positive regulation of multicellular organismal process| |positive regulation of cell communication| |positive regulation of signaling| |system process| |positive regulation of gene expression| </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: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|1/28| |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>**: 16067 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.17 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='CCBE1 Expression in NALM6 Cells: 3.17'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1