NEK8
Function
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).
Involvement in disease
Nephronophthisis 9
NPHP9
An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
None
The disease is caused by variants affecting the gene represented in this entry.
Renal-hepatic-pancreatic dysplasia 2
RHPD2
A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
None
The disease is caused by variants affecting the gene represented in this entry.
Polycystic kidney disease 8
PKD8
A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD8 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Tissue Specificity
Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cell projection
- Cilium
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.
Alternative names
JCK, NEK12A, NEK8, Serine/threonine-protein kinase Nek8, Never in mitosis A-related kinase 8, Nima-related protein kinase 12a, NimA-related protein kinase 8