CCDC65 (coiled-coil domain containing 65)

2014-11-01  

Identity

HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
CFAP250,DRC2,FAP250,NYD-SP28

Other Information

Locus ID:

NCBI: 85478
MIM: 611088
HGNC: 29937
Ensembl: ENSG00000139537

Variants:

dbSNP: 85478
ClinVar: 85478
TCGA: ENSG00000139537
COSMIC: CCDC65

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139537ENST00000266984Q8IXS2
ENSG00000139537ENST00000320516Q8IXS2
ENSG00000139537ENST00000547861F8W0R6
ENSG00000139537ENST00000552942F8VR42

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
239910852013CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.40
170890172006Cloning and characterization of a novel sperm tail protein, NYD-SP28.5

Citation

Dessen P

CCDC65 (coiled-coil domain containing 65)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61558/ccdc65-(coiled-coil-domain-containing-65)