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Aliases for NEK8 Gene

Aliases for NEK8 Gene

  • NimA-Related Kinase 8 2 3
  • NIMA (Never In Mitosis Gene A)- Related Kinase 8 2 3
  • Never In Mitosis A-Related Kinase 8 3 4
  • Nima-Related Protein Kinase 12a 3 4
  • NimA-Related Protein Kinase 8 3 4
  • NEK12A 3 4
  • JCK 3 4
  • Serine/Thrionine-Protein Kinase NEK8 3
  • NIMA-Family Kinase NEK8 3
  • NIMA-Related Kinase 12a 3
  • Nephrocystin 9 3
  • EC 2.7.11.1 4
  • EC 2.7.11 63
  • NPHP9 3
  • RHPD2 3

External Ids for NEK8 Gene

Previous GeneCards Identifiers for NEK8 Gene

  • GC00U991210
  • GC17P026917
  • GC17P027201
  • GC17P024079
  • GC17P027055
  • GC17P023264
  • GC17P027059
  • GC17P027068
  • GC17P027085

Summaries for NEK8 Gene

Entrez Gene Summary for NEK8 Gene

  • 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]

GeneCards Summary for NEK8 Gene

NEK8 (NimA-Related Kinase 8) is a Protein Coding gene. Diseases associated with NEK8 include nephronophthisis 9 and renal-hepatic-pancreatic dysplasia 2. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is NEK2.

UniProtKB/Swiss-Prot for NEK8 Gene

  • 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.

Gene Wiki entry for NEK8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEK8 Gene

Genomics for NEK8 Gene

Regulatory Elements for NEK8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NEK8 Gene

Chromosome:
17
Start:
28,725,897 bp from pter
End:
28,743,455 bp from pter
Size:
17,559 bases
Orientation:
Plus strand

Genomic View for NEK8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for NEK8 Gene

Proteins for NEK8 Gene

  • Protein details for NEK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SG6-NEK8_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Nek8
    Protein Accession:
    Q86SG6
    Secondary Accessions:
    • A6NIC5
    • Q14CL7
    • Q2M1S6
    • Q8NDH1

    Protein attributes for NEK8 Gene

    Size:
    692 amino acids
    Molecular mass:
    74806 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PKD2; may regulate PKD2 targeting to the cilium (By similarity). Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme. Interacts with ANKS3 (By similarity).

neXtProt entry for NEK8 Gene

Proteomics data for NEK8 Gene at MOPED

Selected DME Specific Peptides for NEK8 Gene

Post-translational modifications for NEK8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEK8 Gene

Antibody Products

Domains & Families for NEK8 Gene

Gene Families for NEK8 Gene

Suggested Antigen Peptide Sequences for NEK8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86SG6

UniProtKB/Swiss-Prot:

NEK8_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
  • Contains 5 RCC1 repeats.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Similarity:
  • Contains 5 RCC1 repeats.
genes like me logo Genes that share domains with NEK8: view

Function for NEK8 Gene

Molecular function for NEK8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NEK8 Gene

Gene Ontology (GO) - Molecular Function for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IBA --
GO:0005515 protein binding IPI 23418306
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NEK8: view
genes like me logo Genes that share phenotypes with NEK8: view

Animal Models for NEK8 Gene

MGI Knock Outs for NEK8:

Animal Model Products

miRNA for NEK8 Gene

miRTarBase miRNAs that target NEK8

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NEK8

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for NEK8 Gene

Localization for NEK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEK8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium. Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEK8 Gene COMPARTMENTS Subcellular localization image for NEK8 gene
Compartment Confidence
cytoskeleton 3
nucleus 2

Gene Ontology (GO) - Cellular Components for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IMP 18199800
GO:0072372 primary cilium ISS --
GO:0097543 ciliary inversin compartment IEA --
genes like me logo Genes that share ontologies with NEK8: view

Pathways & Interactions for NEK8 Gene

SuperPathways for NEK8 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IBA --
GO:0007017 microtubule-based process IBA --
GO:0009887 organ morphogenesis IMP 23418306
GO:0035330 regulation of hippo signaling IDA 23418306
genes like me logo Genes that share ontologies with NEK8: view

No data available for Pathways by source and SIGNOR curated interactions for NEK8 Gene

Drugs & Compounds for NEK8 Gene

(2) Drugs for NEK8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for NEK8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with NEK8: view

Transcripts for NEK8 Gene

Unigene Clusters for NEK8 Gene

NIMA-related kinase 8:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NEK8

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEK8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2:
SP3: - -
SP4: - -
SP5: -

Relevant External Links for NEK8 Gene

GeneLoc Exon Structure for
NEK8
ECgene alternative splicing isoforms for
NEK8

Expression for NEK8 Gene

mRNA expression in normal human tissues for NEK8 Gene

Protein differential expression in normal tissues from HIPED for NEK8 Gene

This gene is overexpressed in Liver (60.8) and Testis (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NEK8 Gene



SOURCE GeneReport for Unigene cluster for NEK8 Gene Hs.448468

mRNA Expression by UniProt/SwissProt for NEK8 Gene

Q86SG6-NEK8_HUMAN
Tissue specificity: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma.
genes like me logo Genes that share expression patterns with NEK8: view

Protein tissue co-expression partners for NEK8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NEK8 Gene

Orthologs for NEK8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEK8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NEK8 35
  • 88.82 (n)
  • 94.8 (a)
NEK8 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEK8 35
  • 89.6 (n)
  • 94.36 (a)
NEK8 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nek8 35
  • 87.76 (n)
  • 94.22 (a)
Nek8 16
Nek8 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NEK8 35
  • 97.63 (n)
  • 97.21 (a)
NEK8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nek8 35
  • 88.05 (n)
  • 94.22 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia NEK8 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEK8 35
  • 75.39 (n)
  • 81.1 (a)
NEK8 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 36 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nek8 35
  • 70.34 (n)
  • 77.39 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20074 35
zebrafish
(Danio rerio)
Actinopterygii nek8 35
  • 70.69 (n)
  • 74.27 (a)
nek8 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006872 35
  • 46.46 (n)
  • 34.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta niki 35
  • 48.03 (n)
  • 36.56 (a)
niki 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nekl-1 35
  • 46.26 (n)
  • 39.79 (a)
nekl-2 36
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1153 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
Species with no ortholog for NEK8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEK8 Gene

ENSEMBL:
Gene Tree for NEK8 (if available)
TreeFam:
Gene Tree for NEK8 (if available)

Paralogs for NEK8 Gene

Paralogs for NEK8 Gene

genes like me logo Genes that share paralogs with NEK8: view

Variants for NEK8 Gene

Sequence variations from dbSNP and Humsavar for NEK8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3809797 -- 28,738,193(-) GTCAC(A/G)CCCGA synonymous-codon, reference, missense, nc-transcript-variant
rs3833163 -- 28,740,993(+) GAGGA(-/GGA)CTTGG intron-variant
rs6505091 -- 28,731,678(+) ggctc(A/G)ttgca intron-variant
rs6505092 -- 28,731,697(+) ctccc(A/G)ggttc intron-variant
rs8073738 -- 28,740,894(+) GAGGC(C/T)CTGAG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for NEK8 Gene

Variant ID Type Subtype PubMed ID
nsv908028 CNV Loss 21882294
esv24071 CNV Loss 19812545

Variation tolerance for NEK8 Gene

Residual Variation Intolerance Score: 6.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEK8 Gene

HapMap Linkage Disequilibrium report
NEK8
Human Gene Mutation Database (HGMD)
NEK8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEK8 Gene

Disorders for NEK8 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NEK8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 9
  • nphp9
renal-hepatic-pancreatic dysplasia 2
  • rhpd2
gallbladder small cell carcinoma
  • oat cell carcinoma of the gallbladder
breast malignant phyllodes tumor
  • phyllodes tumor, malignant
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
- elite association
Search NEK8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEK8_HUMAN
  • Nephronophthisis 9 (NPHP9) [MIM:613824]: 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. {ECO:0000269 PubMed:18199800}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Renal-hepatic-pancreatic dysplasia 2 (RHPD2) [MIM:615415]: 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. {ECO:0000269 PubMed:23418306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NEK8

Human Genome Epidemiology (HuGE) Navigator
NEK8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEK8
genes like me logo Genes that share disorders with NEK8: view

No data available for Genatlas for NEK8 Gene

Publications for NEK8 Gene

  1. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. (PMID: 18199800) Otto E.A. … Hildebrandt F. (J. Am. Soc. Nephrol. 2008) 2 67
  2. Defects in ciliary localization of Nek8 is associated with cystogenesis. (PMID: 18189147) Trapp M.L. … Quarmby L.M. (Pediatr. Nephrol. 2008) 23 67
  3. 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. (PMID: 25451921) Ding X.F. … Chen G. (J. Biol. Chem. 2015) 67
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  5. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PMID: 23793029) Hoff S. … Lienkamp S.S. (Nat. Genet. 2013) 67

Products for NEK8 Gene

Sources for NEK8 Gene

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