Identity
HGNC
LOCATION
12q21.32
LOCUSID
ALIAS
3H11Ag,BBS14,CT87,JBTS5,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16
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: 80184
MIM: 610142
HGNC: 29021
Ensembl: ENSG00000198707
Variants:
dbSNP: 80184
ClinVar: 80184
TCGA: ENSG00000198707
COSMIC: CEP290
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36493848 | 2023 | Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. | 1 |
| 36495011 | 2023 | Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients. | 2 |
| 36493848 | 2023 | Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. | 1 |
| 36495011 | 2023 | Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients. | 2 |
| 34532855 | 2022 | HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family. | 0 |
| 35271462 | 2022 | Centrosomal protein 290 is a novel prognostic indicator that modulates liver cancer cell ferroptosis via the Nrf2 pathway. | 3 |
| 36384729 | 2022 | Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism. | 0 |
| 36469661 | 2022 | Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. | 1 |
| 34532855 | 2022 | HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family. | 0 |
| 35271462 | 2022 | Centrosomal protein 290 is a novel prognostic indicator that modulates liver cancer cell ferroptosis via the Nrf2 pathway. | 3 |
| 36384729 | 2022 | Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism. | 0 |
| 36469661 | 2022 | Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. | 1 |
| 32747192 | 2021 | Primary cilia biogenesis and associated retinal ciliopathies. | 41 |
| 33625872 | 2021 | Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. | 15 |
| 33626495 | 2021 | Knockout of the CEP290 gene in human induced pluripotent stem cells. | 0 |
Citation
Dessen P
CEP290 (centrosomal protein 290)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61722/cep290-(centrosomal-protein-290)
