Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152137
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil domain containing 50
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCDC50
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf6, DFNA44, YMER
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA44
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18029035, 32296183
GO:0005829 Component Cytosol IDA
GO:0007605 Process Sensory perception of sound IMP 17503326
GO:0031625 Function Ubiquitin protein ligase binding IPI 23418353
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611051 18111 ENSG00000152492
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

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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness Deafness, Autosomal Dominant 44 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
17503326
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Nonsyndromic deafness Nonsyndromic Deafness rs606231410, rs794729665, rs730880338, rs1566538321 27911912, 17503326, 27068579
Associations from Text Mining
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