CCDC39 (coiled-coil domain containing 39)

2014-08-01  

Identity

HGNC
LOCATION
3q26.33
LOCUSID
ALIAS
CFAP59,CILD14,FAP59
FUSION GENES

Other Information

Locus ID:

NCBI: 339829
MIM: 613798
HGNC: 25244
Ensembl: ENSG00000284862

Variants:

dbSNP: 339829
ClinVar: 339829
TCGA: ENSG00000284862
COSMIC: CCDC39

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000284862ENST00000473854H7C4X6
ENSG00000284862ENST00000476379Q9UFE4
ENSG00000284862ENST00000489868H7C5I6
ENSG00000284862ENST00000651046A0A494C1Q3

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
254933402015Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.55
232555042013Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.54
226932852012Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.28
211319722011CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.0

Citation

Dessen P

CCDC39 (coiled-coil domain containing 39)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54197/ccdc39