Identity
HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
CFAP172,CILD15,FAP172
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55036
MIM: 613799
HGNC: 26090
Ensembl: ENSG00000141519
Variants:
dbSNP: 55036
ClinVar: 55036
TCGA: ENSG00000141519
COSMIC: CCDC40
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34941110 | 2021 | CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia. | 5 |
| 34941110 | 2021 | CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia. | 5 |
| 31650533 | 2020 | Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. | 15 |
| 31650533 | 2020 | Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. | 15 |
| 28939216 | 2018 | A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. | 16 |
| 28939216 | 2018 | A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. | 16 |
| 25619595 | 2016 | CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. | 11 |
| 25619595 | 2016 | CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. | 11 |
| 25493340 | 2015 | Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. | 109 |
| 25493340 | 2015 | Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. | 109 |
| 23255504 | 2013 | Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. | 99 |
| 23255504 | 2013 | Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. | 99 |
| 22693285 | 2012 | Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. | 44 |
| 22693285 | 2012 | Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. | 44 |
| 21131974 | 2011 | The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. | 155 |
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-(coiled-coil-domain-containing-40)
