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NEK8 NIMA related kinase 8 [ Homo sapiens (human) ]

Gene ID: 284086, updated on 17-Mar-2024

Summary

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Official Symbol
NEK8provided by HGNC
Official Full Name
NIMA related kinase 8provided by HGNC
Primary source
HGNC:HGNC:13387
See related
Ensembl:ENSG00000160602 MIM:609799; AllianceGenome:HGNC:13387
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in thyroid (RPKM 2.8), lymph node (RPKM 2.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28728788..28743455)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29671595..29686240)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27055806..27070473)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8350 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27052063-27052786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27052787-27053510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27053511-27054234 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27054959-27055682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27055683-27056406 Neighboring gene ribosomal protein L23a Neighboring gene small nucleolar RNA, C/D box 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11944 Neighboring gene TLC domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27064492-27065026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11951 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27070105-27071105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27074109-27075108 Neighboring gene TNF receptor associated factor 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27087700-27088297 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27088298-27088894 Neighboring gene family with sequence similarity 222 member B Neighboring gene uncharacterized LOC124903965

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease. Hassan S, et al. J Pediatr Gastroenterol Nutr, 2020 Jan. PMID 31633649
  2. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Rajagopalan R, et al. Am J Med Genet A, 2016 Mar. PMID 26697755
  3. The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. Zalli D, et al. Hum Mol Genet, 2012 Mar 1. PMID 22106379, Free PMC Article
  4. Never-in-mitosis A-related kinase 8, a novel target of von-Hippel-Lindau tumor suppressor protein, promotes gastric cancer cell proliferation. Ding XF, et al. Oncol Lett, 2018 Nov. PMID 30333866, Free PMC Article
  5. The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells. Ding XF, et al. J Biol Chem, 2015 Jan 16. PMID 25451921, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
    Title: Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
  2. NEK8 regulates colorectal cancer progression via phosphorylating MYC.
    Title: NEK8 regulates colorectal cancer progression via phosphorylating MYC.
  3. Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
    Title: Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
  4. NEK8 plays a critical role in replication fork stability through its regulation of the DNA repair and replication fork protection protein RAD51.
    Title: NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.
  5. The mutations: c.2069_2070insC variant (p.Ter693LeufsTer86), and a c.1043C>T variant (p.Thr348Met) in RCC1 domain of NEK8 in two brothers with cardiac, renal, and hepatic anomalies
    Title: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
  6. our study demonstrates that NEK8 human mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway
    Title: Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
  7. NEK8 may be a new target gene of HIFs; pVHL can down-regulate NEK8 via HIFs to maintain the primary cilia structure in human renal cancer cells
    Title: The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells.
  8. NEK8 is essential for organ development and that the complete loss of NEK8 perturbs multiple signalling pathways resulting in a severe early embryonic phenotype.
    Title: Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
  9. Mutation in NEK8 is associated with renal ciliopathies
    Title: NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
  10. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
    Title: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Nephronophthisis 9
MedGen: C3151188 OMIM: 613824 GeneReviews: Nephronophthisis-Related Ciliopathies
Compare labs
Renal-hepatic-pancreatic dysplasia 2
MedGen: C3809434 OMIM: 615415 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138445

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of hippo signaling IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary base IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary inversin compartment IEA
Inferred from Electronic Annotation
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serine/threonine-protein kinase Nek8
Names
NIMA (never in mitosis gene a)- related kinase 8
NIMA-family kinase NEK8
NIMA-related kinase 12a
nephrocystin 9
never in mitosis A-related kinase 8
nimA-related protein kinase 8
nima-related protein kinase 12a
serine/thrionine-protein kinase NEK8
NP_835464.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012263.1 RefSeqGene

    Range
    4975..19642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178170.3 → NP_835464.1  serine/threonine-protein kinase Nek8

    See identical proteins and their annotated locations for NP_835464.1

    Status: REVIEWED

    Source sequence(s)
    AC010761, AY242354, CV811826
    Consensus CDS
    CCDS32597.1
    UniProtKB/Swiss-Prot
    A6NIC5, Q14CL7, Q2M1S6, Q86SG6, Q8NDH1
    Related
    ENSP00000268766.6, ENST00000268766.11
    Conserved Domains (2) summary
    cd08220
    Location:3 → 258
    STKc_Nek8; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 8
    cl27697
    Location:276 → 657
    RCC1; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28728788..28743455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29671595..29686240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SG6.1 GenPept UniProtKB/Swiss-Prot:Q86SG6

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