CCDC50

GENE INFORMATION

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Gene name

CCDC50 (HGNC Symbol)

Synonyms

C3orf6, DFNA44, Ymer

Description

Coiled-coil domain containing 50 (HGNC Symbol)

Entrez gene 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 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]

Chromosome

3

Cytoband

q28

Chromosome location (bp)

191046866 - 191116459

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152492 (version 75.37)

Entrez gene

152137

UniProt

Q8IVM0 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IVM0

Antibodypedia

CCDC50 antibodies
 

PROTEIN VIEW

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CCDC50-001
 
CCDC50-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CCDC50-001 ENSP00000376249
ENST00000392455
Q8IVM0
Show all »
Show » Show » 306 35.8 No 0
CCDC50-002 ENSP00000376250
ENST00000392456
Q8IVM0
Show all »
Show » Show » 482 56.3 No 0