======= CCDC50 ======= == Gene Information == * **Official Symbol**: CCDC50 * **Official Name**: coiled-coil domain containing 50 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=152137|152137]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8IVM0|Q8IVM0]] * **Interactions**: [[https://thebiogrid.org/search.php?search=CCDC50&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCDC50|Open PubMed]] * **OMIM**: [[https://omim.org/entry/611051|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. * **UniProt Summary**: Involved in EGFR signaling. {ECO:0000269|PubMed:15314609}. No Pfam Domain information is available for this gene. |sensory perception of sound| |sensory perception of mechanical stimulus| |ubiquitin protein ligase binding| |sensory perception| |nervous system process| |system process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. 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**: 15079 * **Expression level (log2 read counts)**: 5.95 {{:chemogenomics:nalm6 dist.png?nolink |}}