NEK8 NIMA related kinase 8

Gene ID: 284086, updated on 17-Mar-2024
Gene type: protein coding
Also known as: JCK; NPHP9; RHPD2; NEK12A

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Nephronophthisis 9 MedGen: C3151188OMIM: 613824GeneReviews: Nephronophthisis-Related Ciliopathies	See labs
Renal-hepatic-pancreatic dysplasia 2 MedGen: C3809434OMIM: 615415GeneReviews: Not available	See labs

Genomic context

Location:: 17q11.2

Sequence:: Chromosome: 17; NC_000017.11 (28728788..28743455)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NEK8 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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