AlphaFold predicted structure
NEK8 · Q86SG6
Mean pLDDT
84.9/ 100
Confident
692 residues
Confidence breakdown
- Very high(≥ 90)64%
- Confident(70–90)22%
- Low(50–70)4%
- Very low(< 50)11%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NEK8
Chr 17q11.2NIMA related kinase 8
- Aliases:
- NPHP9
- MANE:
- ENST00000268766.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalCAKUT
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Primary ciliary disorders
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Disease associations (Open Targets)
renal-hepatic-pancreatic dysplasia 2
0.74nephronophthisis
0.73nephronophthisis 9
0.71renal-hepatic-pancreatic dysplasia
0.63polycystic kidney disease 8
0.61autosomal dominant polycystic kidney disease
0.47hereditary disease
0.42nephronophthisis 2
0.38polycystic kidney disease
0.37familial cystic renal disease
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Serine/threonine-protein kinase Nek8
Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and is involved in the regulation of the Hippo signaling pathway (PubMed:26967905)
Diseases associated with NEK8
Curated MONDO disease pages that list NEK8 among their top associated genes.