Identity
HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
C-NAP1,CEP2,CNAP1,CRDHL2
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: 11190
MIM: 609689
HGNC: 1859
Ensembl: ENSG00000126001
Variants:
dbSNP: 11190
ClinVar: 11190
TCGA: ENSG00000126001
COSMIC: CEP250
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35729462 | 2022 | Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway. | 2 |
| 35729462 | 2022 | Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway. | 2 |
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 34223797 | 2021 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | 10 |
| 33109182 | 2020 | Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma. | 6 |
| 33109182 | 2020 | Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma. | 6 |
| 30998843 | 2019 | Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. | 17 |
| 30998843 | 2019 | Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. | 17 |
| 29718797 | 2018 | CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. | 23 |
| 30459346 | 2018 | High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. | 22 |
| 29718797 | 2018 | CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. | 23 |
| 30459346 | 2018 | High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. | 22 |
| 28100636 | 2017 | Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. | 15 |
| 28100636 | 2017 | Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification. | 15 |
| 25660448 | 2015 | The tumor suppressor proteins ASPP1 and ASPP2 interact with C-Nap1 and regulate centrosome linker reassembly. | 5 |
Citation
Dessen P
CEP250 (centrosomal protein 250)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54212/new-content/case-report-explorer/
