Gene Gene information from NCBI Gene database.
Entrez ID 152137
Gene name Coiled-coil domain containing 50
Gene symbol CCDC50
Synonyms (NCBI Gene)
C3orf6DFNA44YMER
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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs138153104 C>T Conflicting-interpretations-of-pathogenicity Missense variant, intron variant, coding sequence variant
rs143628723 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
470
miRTarBase ID miRNA Experiments Reference
MIRT499020 hsa-miR-4802-3p PAR-CLIP 24398324
MIRT499019 hsa-miR-942-3p PAR-CLIP 24398324
MIRT499018 hsa-miR-6758-5p PAR-CLIP 24398324
MIRT499016 hsa-miR-6856-5p PAR-CLIP 24398324
MIRT499017 hsa-miR-6873-5p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18029035, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0007605 Process Sensory perception of sound IMP 17503326
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611051 18111 ENSG00000152492
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVM0
Protein name Coiled-coil domain-containing protein 50 (Protein Ymer)
Protein function Involved in EGFR signaling.
PDB 6LAN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15295 CCDC50_N 4 128 Coiled-coil domain-containing protein 50 N-terminus Coiled-coil
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
MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAK
QLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKE
LQEEKKRK
KHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIAR
KLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREKSSLDKRKQDPEWKPK
TAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHK
GFHYKH
Sequence length 306
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 44 Pathogenic rs2108677025 RCV002259400
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCDC50-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs115771997, rs146511344, rs794727079, rs138153104, rs114146378, rs1260207759, rs536917876, rs534593003, rs34031057, rs1036708407, rs763498226, rs753822249 RCV003927510
RCV003907417
RCV003975273
RCV004754362
RCV003917891
RCV003406171
RCV003416892
RCV003894283
RCV003919803
RCV003902247
RCV003901795
RCV003961826
Clear cell carcinoma of kidney Benign rs1474188 RCV005894340
Gastric cancer Benign rs16822378, rs75123867 RCV005921578
RCV005888308
Hearing impairment Conflicting classifications of pathogenicity rs138443787 RCV005626527
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 37965313
Carcinoma Hepatocellular Stimulate 37552104
Deafness Autosomal Dominant 1 Associate 36071244
Inflammation Associate 37965313
Leukemia Myeloid Acute Associate 31811114
Neoplasms Squamous Cell Associate 31811114
Triple Negative Breast Neoplasms Associate 38111587