NEK8

This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans.

Full Name

NIMA RELATED KINASE 8

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 (By similarity).

Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway.

Biological Process

Animal organ morphogenesis Source: UniProtKB
Chromosome segregation Source: GO_Central
Determination of left/right symmetry Source: Ensembl
Heart development Source: Ensembl
Regulation of hippo signaling Source: UniProtKB

Cellular Location

Cytoplasm
Cytoskeleton
centrosome
Other locations
cilium
Note: Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.

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.
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.