help  | about  | cite  | software

Gene : CCDC50 Homo sapiens

Name  ? coiled-coil domain containing 50 Cytological Location  3q28
Brief Description  coiled-coil domain containing 50
Description  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]
  • synonyms:
  • CCDC50,
  • uc003fsv.4,
  • DFNA44,
  • deafness, autosomal dominant 44,
  • NM_174908,
  • C3orf6,
  • C3orf6,
  • HGNC:18111,
  • Ymer,
  • YMER,
  • DFNA44,
  • OTTHUMG00000156177,
  • AJ416916
  • identifiers:
  • 152137,
  • ENSG00000152492,
  • CCDC50

Genome feature

Region: gene ? Length: 69578  
Location: 3:191329082-191398659 Cyto location: 3q28

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3740 SNPs

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results