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Aliases for NEK8 Gene

Aliases for NEK8 Gene

  • NimA-Related Kinase 8 2 3
  • JCK 3 4 6
  • 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
  • NPHP9 3 6
  • RHPD2 3 6
  • Serine/Threonine-Protein Kinase Nek8 3
  • 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 64

External Ids for NEK8 Gene

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 renal-hepatic-pancreatic dysplasia 2 and nephronophthisis 9. GO annotations related to this gene include protein serine/threonine 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

Genomic Location for NEK8 Gene

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:
Genomic Location for NEK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEK8 Gene

Regulatory Elements 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

Domains for NEK8 Gene

UniProtKB/Swiss-Prot:

NEK8_HUMAN
Domain:
  • Contains 1 protein kinase domain.:
    • Q86SG6
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.:
    • Q86SG6
Similarity:
  • Contains 5 RCC1 repeats.:
    • Q86SG6
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:0004713 protein tyrosine kinase activity --
GO:0005515 protein binding IPI 23418306
GO:0005524 ATP 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:

No data available for miRNA , Transcription Factor Targeting 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 5
cytosol 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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 for NEK8 Gene

SuperPathways for NEK8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IBA --
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 for NEK8 Gene

Compounds for NEK8 Gene

(3) HMDB Compounds for NEK8 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
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:

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

Integrated Proteomics: protein expression 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 expressions with NEK8: view

Orthologs for NEK8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEK8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEK8 36
  • 97.63 (n)
  • 97.21 (a)
NEK8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEK8 36
  • 88.82 (n)
  • 94.8 (a)
NEK8 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEK8 36
  • 89.6 (n)
  • 94.36 (a)
NEK8 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nek8 36
  • 87.76 (n)
  • 94.22 (a)
Nek8 16
Nek8 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEK8 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nek8 36
  • 88.05 (n)
  • 94.22 (a)
chicken
(Gallus gallus)
Aves NEK8 36
  • 75.39 (n)
  • 81.1 (a)
NEK8 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 36 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.20074 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nek8 36
  • 70.34 (n)
  • 77.39 (a)
zebrafish
(Danio rerio)
Actinopterygii nek8 36
  • 70.69 (n)
  • 74.27 (a)
nek8 37
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006872 36
  • 46.46 (n)
  • 34.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta niki 36
  • 48.03 (n)
  • 36.56 (a)
niki 37
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nekl-1 36
  • 46.26 (n)
  • 39.79 (a)
nekl-2 37
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1153 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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, 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, nc-transcript-variant

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

Relevant External Links for NEK8 Gene

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

Disorders for NEK8 Gene

(2) OMIM Diseases for NEK8 Gene (609799)

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

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 3 4
  2. Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors. (PMID: 15019993) Bowers A.J. … Boylan J.F. (Gene 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. (PMID: 23418306) Frank V. … Bergmann C. (Hum. Mol. Genet. 2013) 3 4
  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) 3 4

Products for NEK8 Gene

  • Addgene plasmids for NEK8

Sources for NEK8 Gene

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