CCDC40 (coiled-coil domain containing 40)

2014-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
CFAP172,CILD15,FAP172
FUSION GENES

Other Information

Locus ID:

NCBI: 55036
MIM: 613799
HGNC: 26090
Ensembl: ENSG00000141519

Variants:

dbSNP: 55036
ClinVar: 55036
TCGA: ENSG00000141519
COSMIC: CCDC40

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141519ENST00000269318Q4G0X9
ENSG00000141519ENST00000374876Q4G0X9
ENSG00000141519ENST00000374877Q4G0X9
ENSG00000141519ENST00000397545Q4G0X9
ENSG00000141519ENST00000571028I3L477
ENSG00000141519ENST00000573474I3L3G6
ENSG00000141519ENST00000574099I3L2X6
ENSG00000141519ENST00000576033I3L292

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211319742011The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.101
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
289392162018A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.8
256195952016CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.4

Citation

Dessen P

CCDC40 (coiled-coil domain containing 40)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61544/ccdc40