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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611051 Ensembl IDEnsembl:ENSG00000152492 HGNC IDHGNC:HGNC:18111 PHARMGKB IDPA25902 Map Location3q28 | |||||
GO terms in CCDC50
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0007605 | sensory perception of sound |
| CC | IDA | GO:0005829 | cytosol |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
Gene expression in normal tissue: CCDC50
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CCDC50
Database | Pathway ID | Pathway Des. |
|---|---|---|
| netpath | Pathway_EGFR1 | EGFR1 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CCDC50
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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