CCDC50


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
coiled-coil domain containing 50MIM:611051Ensembl:ENSG00000152492HGNC:HGNC:18111PA259023q28

GO terms in CCDC50


Term TypeEvidence TypeGO Term IDGO Des.
BPIMPGO:0007605sensory perception of sound
CCIDAGO:0005829cytosol
MFIPIGO:0005515protein binding
MFIPIGO:0031625ubiquitin protein ligase binding

Gene expression in normal tissue: CCDC50

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CCDC50


DatabasePathway IDPathway Des.
netpathPathway_EGFR1EGFR1

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD554CHEMBL14341373
iGMDRD330BRD41322
iGMDRD84Lovastatin acid2
iGMDRD420Leucascandrolide A1
iGMDRD599Salermide2
iGMDRD670ML 2103
iGMDRD779PRL-3 Inhibitor I2
iGMDRD79Gemcitabine1
iGMDRD201SKI II3
iGMDRD211(1S,3R)-RSL35
iGMDRD154NSC237663
iGMDRD634SCHEMBL26080416
iGMDRD271Brefeldin A2
iGMDRD103SN-382
iGMDRD255SB2250023
iGMDRD52Rotenone2
iGMDRD77Itraconazole3
iGMDRD267Oligomycin A5
iGMDRD318PAC-11
iGMDRD441TW 372
iGMDRD871BRD63683
iGMDRD367Ro 28-16752
iGMDRD888Compound 445
iGMDRD300Tozasertib2
iGMDRD23Gossypol5
iGMDRD268Cerulenin2
iGMDRD82Quiflapon3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CCDC50

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