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NEK8 Gene

protein-coding   GIFtS: 56
GCID: GC17P027085

NIMA-Related Kinase 8

(Previous name: NIMA (never in mitosis gene a)- related kinase 8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NIMA-Related Kinase 81 2     RHPD22 5
JCK2 3 5     Nephrocystin 92
NIMA (Never In Mitosis Gene A)- Related Kinase 81 2     NIMA-Family Kinase NEK82
Never In Mitosis A-Related Kinase 82 3     NIMA-Related Kinase 12a2
Nima-Related Protein Kinase 12a2 3     Serine/Threonine-Protein Kinase Nek82
NimA-Related Protein Kinase 82 3     Serine/Thrionine-Protein Kinase NEK82
NEK12A2 3     EC 2.7.11.13
NPHP92 5     EC 2.7.118

External Ids:    HGNC: 133871   Entrez Gene: 2840862   Ensembl: ENSG000001606027   OMIM: 6097995   UniProtKB: Q86SG63   

Export aliases for NEK8 gene to outside databases

Previous GC identifers: GC00U991210 GC17P026917 GC17P027201 GC17P024079 GC17P027055 GC17P023264 GC17P027059 GC17P027068


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 protein serine/threonine kinase activity. An important paralog of this gene is NEK4.

UniProtKB/Swiss-Prot: NEK8_HUMAN, Q86SG6
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

Gene Wiki entry for NEK8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEK8 gene promoter:
         AP-1   ATF-2   Tal-1beta   C/EBPalpha   E47   CHOP-10   FOXI1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEK8 promoter sequence
   Search Chromatin IP Primers for NEK8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEK8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.1   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.1

NEK8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEK8 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P027085:  view genomic region     (about GC identifiers)

Start:
27,052,915 bp from pter      End:
27,070,473 bp from pter
Size:
17,559 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NEK8_HUMAN, Q86SG6 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase Nek8  
Size: 692 amino acids; 74806 Da
Cofactor: Magnesium (By similarity)
Subunit: 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
Secondary accessions: A6NIC5 Q14CL7 Q2M1S6 Q8NDH1

Explore the universe of human proteins at neXtProt for NEK8: NX_Q86SG6

Explore proteomics data for NEK8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for NEK8 (Q86SG6)
     VGRGAFG  YNQKSDI  ILHRDLK 


    See NEK8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_835464.1  
    ENSEMBL proteins: 
     ENSP00000467335   ENSP00000466896   ENSP00000268766   ENSP00000465859   ENSP00000466476  

    NEK8 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NEK8
    OriGene Custom MassSpec
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    Novus Biologicals NEK8 Proteins
    Novus Biologicals NEK8 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NEK8

    NEK8 Antibody Products:

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    ThermoFisher Antibodies for NEK8
    LSBio Antibodies in human, mouse, rat for NEK8

    NEK8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for NEK8
    Cloud-Clone Corp. CLIAs for NEK8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: NIMA-related kinase 8
    NIMA (never in mitosis gene a)- related kinase (NEK) family

    Selected InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR009091 RCC1/BLIP-II

    Graphical View of Domain Structure for InterPro Entry Q86SG6

    ProtoNet protein and cluster: Q86SG6

    UniProtKB/Swiss-Prot: NEK8_HUMAN, Q86SG6
    Similarity: Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 5 RCC1 repeats


    NEK8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEK8_HUMAN, Q86SG6
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.112 EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    NEK8 for ontologies           About GeneDecksing


    Phenotypes:
         10 GenomeRNAi human phenotypes for NEK8:
     Decreased focal adhesion (FA)   Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased substrate adherent c 
     Decreased telomerase activity  Gemcitabine induced cell-death  Increased apoptosis  Increased gamma-H2AX phosphory 
     Stronger migration  Synthetic lethal with cisplati 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nek8):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  mortality/aging 
     renal/urinary system  respiratory system 

    NEK8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nek8tm1Bei for NEK8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NEK8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NEK8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NEK8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NEK8

    miRNA
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    Block miRNA regulation of human, mouse, rat NEK8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEK8 (see all 11):
    hsa-miR-576-5p hsa-miR-4263 hsa-miR-520a-5p hsa-miR-3926 hsa-miR-2115 hsa-miR-525-5p hsa-miR-3150b-3p hsa-miR-323-5p
    SwitchGear 3'UTR luciferase reporter plasmidNEK8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NEK8
    Predesigned siRNA for gene silencing in human, mouse, rat NEK8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NEK8

    Clone
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    OriGene clones in human, mouse for NEK8 (see all 8)
    OriGene ORF clones in mouse, rat for NEK8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NEK8 (NM_178170)
    Sino Biological Human cDNA Clone for NEK8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEK8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEK8

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEK8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEK8_HUMAN, Q86SG6: Cytoplasm (By similarity). Cytoplasm, cytoskeleton. Cell projection, cilium (By similarity).
    Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in
    dividing cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0072372primary cilium ISS--

    NEK8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including NEK8: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NEK8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for NEK8 (Q86SG62, 3 ENSP000002687664) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110575 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111415 I2D: score=3 STRING: ENSP00000357656
    ACVR1Q047713, ENSP000002636404I2D: score=3 STRING: ENSP00000263640
    BICD2Q8TD163, ENSP000003493514I2D: score=1 STRING: ENSP00000349351
    CSN2P058143, ENSP000003410304I2D: score=1 STRING: ENSP00000341030
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0009887organ morphogenesis IMP--
    GO:0035330regulation of hippo signaling IDA--

    NEK8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NEK8

    3 HMDB Compounds for NEK8    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NEK8 gene: 
    NM_178170.2  

    Unigene Cluster for NEK8:

    NIMA-related kinase 8
    Hs.448468  [show with all ESTs]
    Unigene Representative Sequence: NM_178170
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579671 ENST00000584342 ENST00000579060 ENST00000268766(uc002hcp.3)
    ENST00000543014 ENST00000581000 ENST00000593261 ENST00000592510
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NEK8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEK8 (see all 11):
    hsa-miR-576-5p hsa-miR-4263 hsa-miR-520a-5p hsa-miR-3926 hsa-miR-2115 hsa-miR-525-5p hsa-miR-3150b-3p hsa-miR-323-5p
    SwitchGear 3'UTR luciferase reporter plasmidNEK8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NEK8
    Predesigned siRNA for gene silencing in human, mouse, rat NEK8
    Clone
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    OriGene ORF clones in mouse, rat for NEK8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NEK8 (NM_178170)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEK8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEK8
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NEK8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEK8
      QuantiTect SYBR Green Assays in human, mouse, rat NEK8
      QuantiFast Probe-based Assays in human, mouse, rat NEK8

    Additional mRNA sequence: 

    AK301429.1 AL833909.1 AY242354.1 AY267371.1 BC112240.1 BC113705.1 

    4 DOTS entries:

    DT.40258063  DT.120945084  DT.40304814  DT.91991104 

    Selected AceView cDNA sequences (see all 26):

    AY242354 AY267371 AL833909 AI225141 NM_178170 BG755480 BE905215 BF795289 
    BU615791 BU528160 AI086865 BX283567 CN484712 AI432103 BG329906 AA311846 
    AA076408 BF982335 AA355597 BG394326 BU194195 AW967280 AA076459 BI254389 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NEK8    About this scheme

    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:                    -                                                                                                                     


    ECgene alternative splicing isoforms for NEK8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NEK8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTATCAGG
    NEK8 Expression
    About this image

    NEK8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEK8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.448468

    UniProtKB/Swiss-Prot: NEK8_HUMAN, Q86SG6
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including NEK8: 
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NEK8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEK8
    QuantiTect SYBR Green Assays in human, mouse, rat NEK8
    QuantiFast Probe-based Assays in human, mouse, rat NEK8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEK8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NEK8 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nek81 , 5 NIMA (never in mitosis gene a)-related expressed kinase more1, 5 87.76(n)1
    94.22(a)1
      11 (46.74 cM)5
    1408591  NM_080849.31  NP_543125.11 
     781661065 
    chicken
    (Gallus gallus)
    Aves NEK81 NIMA (never in mitosis gene a)- related kinase 8 75.39(n)
    81.1(a)
      417576  XM_415822.4  XP_415822.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    36(a)
    many ↔ many
    GL343686.1(234000-236344)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.200742 Xenopus laevis transcribed sequence with weak similarity more 79.17(n)    BU911952.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nek82 NIMA (never in mitosis gene a)-related kinase 8 77.54(n)   171094  AF407580.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta niki1 nimA-like kinase 48.03(n)
    36.56(a)
      42959  NM_143036.1  NP_651293.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nekl-11 nekl-1 46.26(n)
    39.79(a)
      189769  NM_058567.3  NP_490968.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEK8 gene
    NEK42  NEK62  NEK12  NEK112  NEK32  NEK72  NEK52  NEK22  
    NEK102  NEK92  
    Selected SIMAP similar genes for NEK8 using alignment to 5 protein entries:     NEK8_HUMAN (see all proteins) (see all similar genes):
    NEK3    DKFZp564L2416    NEK6    MAPK3    MARK2    NEK4
    PHKG2    SGK494    NEK7    PRKD3    NEK9    STK36
    BRAF    STK25    MARK4    CDK7    KIN27    NEK10

    NEK8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NEK8 (see all 355)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0657714
    Nephronophthisis 9 (NPHP9)4--see VAR_0657712 A P mis40--------
    VAR_0657704
    Nephronophthisis 9 (NPHP9)4--see VAR_0657702 H Y mis40--------
    VAR_0657694
    Nephronophthisis 9 (NPHP9)4--see VAR_0657692 L F mis40--------
    rs105324841,2
    C--27056551(+) TTTTT-/TTTGAGGC 2 -- int1 cds11Minor allele frequency- TTT:0.00NA 2
    rs1121555681,2
    F--27063931(+) AACATG/ATAAGT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1116514941,2
    C--27114093(+) TGTGGC/GGCGGG 1 -- us2k10--------
    rs1416210001,2
    C--27114134(+) GCTTT-/CGGGGA 1 -- us2k10--------
    rs1861486561,2
    --27114566(+) CCTTGA/CGAGAG 1 -- us2k10--------
    rs116582331,2
    C,F,H--27114643(+) GCTAAC/ACTTCA 1 -- us2k15Minor allele frequency- A:0.01NS NA 504
    rs665163761,2
    C--27114691(+) TCTTT-/CTTTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NEK8 (27052915 - 27070473 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NEK8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908028CNV Loss21882294
    esv24071CNV Loss19812545

    Human Gene Mutation Database (HGMD): NEK8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEK8
    DNA2.0 Custom Variant and Variant Library Synthesis for NEK8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609799   
    OMIM disorders: 613824  615415  
    UniProtKB/Swiss-Prot: NEK8_HUMAN, Q86SG6
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20 diseases for NEK8:    About MalaCards
    nephronophthisis 9    renal-hepatic-pancreatic dysplasia 2    gallbladder small cell carcinoma    breast malignant phyllodes tumor
    jaw cancer    phyllode tumor    renal-hepatic-pancreatic dysplasia 1    infantile autosomal recessive medullary cystic kidney disease
    small cell carcinoma    polycystic kidney disease    mucinous adenocarcinoma    senior-loken syndrome
    nephronophthisis    cystic kidney    kidney disease    malaria
    adenocarcinoma    multiple myeloma    thyroiditis    myeloma

    5 diseases from the University of Copenhagen DISEASES database for NEK8:
    Nephronophthisis     Cystic kidney     Polycystic kidney disease     Jaw cancer
    Breast malignant phyllodes tumor

    NEK8 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: NEK8 (3 documents)

    Export disorders for NEK8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NEK8 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with NEK8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. (PubMed id 18199800)1, 2, 3 Otto E.A....Hildebrandt F. (J. Am. Soc. Nephrol. 2008)
    2. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. (PubMed id 23418306)1, 2 Frank V.... Bergmann C. (Hum. Mol. Genet. 2013)
    3. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PubMed id 23793029)1, 2 Hoff S....Lienkamp S.S. (Nat. Genet. 2013)
    4. Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors. (PubMed id 15019993)1, 2 Bowers A.J. and Boylan J.F. (Gene 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    7. NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. (PubMed id 23973373)1 Choi H.J....Cimprich K.A. (Mol. Cell 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    10. The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. (PubMed id 23026745)1 Habbig S....Schermer B. (Hum. Mol. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 284086 HGNC: 13387 AceView: NEK8 Ensembl:ENSG00000160602 euGenes: HUgn284086
    ECgene: NEK8 H-InvDB: NEK8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NEK8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NEK8 gene:
    Search GeneIP for patents involving NEK8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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