CCDC50 (coiled-coil domain containing 50)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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152137 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Coiled-coil domain containing 50 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CCDC50 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C3orf6, DFNA44, YMER |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q28 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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