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

Summary

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
NEK8 regulates colorectal cancer progression via phosphorylating MYC.
Title: NEK8 regulates colorectal cancer progression via phosphorylating MYC.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.7.11.1

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

NG_012263.1 RefSeqGene

Range

4975..19642

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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