• Gene id: 152137

Gene Summary

• Gene Symbol: CCDC50   Gene   UCSC   Ensembl
• Aliases: C3orf6, DFNA44, YMER
• Gene name: coiled-coil domain containing 50
• Alternate names: coiled-coil domain-containing protein 50, protein Ymer,
• Gene location: 3q28 (170770041: 170798976)     Exons: 14     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 611051

Protein Summary

• Protein general information: Q8IVM0  
  • Name: Coiled coil domain containing protein 50 (Protein Ymer)
  • Length: 306  
  • Mass: 35822
  • 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
• Sequence:

  MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAKQLQEEDLKAQAQLQK
  RYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKELQEEKKRKKHFPEFPATRAYADSYYYEDGG
  MKPRVMKEAVSTPSRMAHRDQEWYDAEIARKLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREK
  SSLDKRKQDPEWKPKTAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHK
  GFHYKH

• Structural information:
  • Interpro: IPR039303  IPR029311  
  • STRING: ENSP00000376250
• Other Databases: GeneCards:  CCDC50  Malacards:  CCDC50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
mantle cell lymphoma	PMID:19641524
Autosomal dominant nonsyndromic deafness 44	PMID:17503326
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)