Identity
HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
CILD17,PR46b,SMH
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: 388389
MIM: 614677
HGNC: 32700
Ensembl: ENSG00000167131
Variants:
dbSNP: 388389
ClinVar: 388389
TCGA: ENSG00000167131
COSMIC: CCDC103
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35259782 | 2022 | A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. | 7 |
| 35259782 | 2022 | A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. | 7 |
| 31858719 | 2020 | The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites. | 5 |
| 31858719 | 2020 | The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites. | 5 |
| 31273583 | 2019 | Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction. | 19 |
| 31273583 | 2019 | Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction. | 19 |
| 28790179 | 2018 | High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. | 37 |
| 28790179 | 2018 | High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. | 37 |
| 26123568 | 2015 | A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. | 8 |
| 26123568 | 2015 | A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. | 8 |
| 22581229 | 2012 | CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. | 121 |
| 22581229 | 2012 | CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. | 121 |
Citation
Dessen P
CCDC103 (coiled-coil domain containing 103)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61462/ccdc103-(coiled-coil-domain-containing-103)
