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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,
  • C3orf6,
  • C3orf6,
  • YMER,
  • HGNC:18111,
  • NM_174908,
  • Ymer,
  • DFNA44,
  • deafness, autosomal dominant 44,
  • uc003fsv.4,
  • DFNA44,
  • OTTHUMG00000156177,
  • AJ416916
  • identifiers:
  • 152137,
  • ENSG00000152492,
  • CCDC50

Genome feature

Region: gene ? Length: 69589  
Location: 3:191329082-191398670 Cyto location: 3q28


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

2011 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results