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: 755
MIM: 603191
HGNC: 1260
Ensembl: ENSG00000160226
Variants:
dbSNP: 755
ClinVar: 755
TCGA: ENSG00000160226
COSMIC: CFAP410
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160226 | ENST00000325223 | O43822 |
| ENSG00000160226 | ENST00000339818 | O43822 |
| ENSG00000160226 | ENST00000397956 | O43822 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37188479 | 2023 | Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. | 2 |
| 37188479 | 2023 | Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. | 2 |
| 28422394 | 2017 | Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. | 12 |
| 28422394 | 2017 | Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. | 12 |
| 26974433 | 2016 | Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. | 18 |
| 27455348 | 2016 | Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. | 274 |
| 27548899 | 2016 | Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. | 12 |
| 26974433 | 2016 | Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. | 18 |
| 27455348 | 2016 | Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. | 274 |
| 27548899 | 2016 | Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. | 12 |
| 26290490 | 2015 | The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. | 36 |
| 26294103 | 2015 | C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. | 14 |
| 26290490 | 2015 | The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. | 36 |
| 26294103 | 2015 | C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. | 14 |
| 15068244 | 2003 | Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain. | 9 |
Citation
Dessen P
CFAP410 (cilia and flagella associated protein 410)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57670/cfap410-(cilia-and-flagella-associated-protein-410)
