CCDC50 (coiled-coil domain containing 50)

2010-01-01  

Identity

HGNC
LOCATION
3q28
LOCUSID
ALIAS
C3orf6,DFNA44,YMER
FUSION GENES

Other Information

Locus ID:

NCBI: 152137
MIM: 611051
HGNC: 18111
Ensembl: ENSG00000152492

Variants:

dbSNP: 152137
ClinVar: 152137
TCGA: ENSG00000152492
COSMIC: CCDC50

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152492ENST00000392455Q8IVM0
ENSG00000152492ENST00000392456Q8IVM0

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
168038942006Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein.7
196415242009Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia.6
124832952003A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.5
271429902016Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.5
190592082009Inhibition of NF-kappaB signaling via tyrosine phosphorylation of Ymer.4
223310272012Ymer acts as a multifunctional regulator in nuclear factor-κB and Fas signaling pathways.2

Citation

Dessen P

CCDC50 (coiled-coil domain containing 50)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51303/ccdc50-(coiled-coil-domain-containing-50)