CCDC50 (coiled-coil domain containing 50)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 152137 |
| Gene name | Coiled-coil domain containing 50 |
| Gene symbol | CCDC50 |
| Synonyms (NCBI Gene) |
C3orf6DFNA44YMER
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| Chromosome | 3 |
| Chromosome location | 3q28 |
| 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 expresse |
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SNPs
SNP information provided by dbSNP.
2
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miRNA
miRNA information provided by mirtarbase database.
470
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8IVM0 | ||||||||||
| Protein name | Coiled-coil domain-containing protein 50 (Protein Ymer) | ||||||||||
| Protein function | Involved in EGFR signaling. | ||||||||||
| PDB | 6LAN | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269|PubMed:14527723}. | ||||||||||
| Sequence |
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| Sequence length | 306 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
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