Gene: NEK8

Alternate names for this Gene: JCK|NEK12A|NPHP9|RHPD2

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: NIMA related kinase 8

Type of Gene: protein-coding

rs118204032 in NEK8 gene and NEPHRONOPHTHISIS 9 PMID 18199800 2008 NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

PMID 23418306 2013 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

rs756231248 in NEK8 gene and Pancreatic Neoplasm PMID 20581473 2010 Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM).

rs57466243 in NEK8 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.