AlphaFold predicted structure
CEP164 · Q9UPV0
Mean pLDDT
61.7/ 100
Low
1,460 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)18%
- Low(50–70)6%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CEP164
Chr 11q23.3centrosomal protein 164
- Aliases:
- KIAA1052, NPHP15
- MANE:
- ENST00000278935.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalTubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Senior-Loken syndrome
0.77nephronophthisis 15
0.76ciliopathy
0.51Retinal dystrophy
0.43nephronophthisis
0.40bronchiectasis
0.37CEP164-related ciliopathy
0.37familial lipoprotein lipase deficiency
0.26inborn disorder of amino acid metabolism
0.22hereditary disease
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Centrosomal protein of 164 kDa
Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1
Diseases associated with CEP164
Curated MONDO disease pages that list CEP164 among their top associated genes.