AlphaFold predicted structure
CEP290 · O15078
Mean pLDDT
60.5/ 100
Low
2,479 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)34%
- Low(50–70)42%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CEP290
Chr 12q21.32centrosomal protein 290
- Aliases:
- KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6
- MANE:
- ENST00000552810.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Joubert syndrome 5
0.82Leber congenital amaurosis 10
0.81Senior-Loken syndrome 6
0.81Meckel syndrome, type 4
0.80Meckel syndrome
0.77Leber congenital amaurosis
0.76Bardet-Biedl syndrome 14
0.76Joubert syndrome
0.75Senior-Loken syndrome
0.68Joubert syndrome with oculorenal defect
0.68
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Centrosomal protein of 290 kDa
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973)
Diseases associated with CEP290
Curated MONDO disease pages that list CEP290 among their top associated genes.