Identity
HGNC
LOCATION
3q26.33
LOCUSID
ALIAS
CFAP59,CILD14,FAP59
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: 339829
MIM: 613798
HGNC: 25244
Ensembl: ENSG00000284862
Variants:
dbSNP: 339829
ClinVar: 339829
TCGA: ENSG00000284862
COSMIC: CCDC39
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000284862 | ENST00000473854 | H7C4X6 |
| ENSG00000284862 | ENST00000476379 | Q9UFE4 |
| ENSG00000284862 | ENST00000489868 | H7C5I6 |
| ENSG00000284862 | ENST00000651046 | A0A494C1Q3 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35795318 | 2022 | Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome. | 1 |
| 35795318 | 2022 | Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome. | 1 |
| 34674941 | 2021 | A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient. | 15 |
| 34674941 | 2021 | A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient. | 15 |
| 31650533 | 2020 | Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. | 15 |
| 31772028 | 2020 | Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. | 12 |
| 31650533 | 2020 | Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. | 15 |
| 31772028 | 2020 | Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. | 12 |
| 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 |
| 21131972 | 2011 | CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. | 157 |
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-(coiled-coil-domain-containing-39)
