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NEK3 Gene

protein-coding   GIFtS: 66
GCID: GC13M052706

NIMA-Related Kinase 3

(Previous name: NIMA (never in mitosis gene a)-related kinase 3)
  See NEK3-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 31 2     Never In Mitosis A-Related Kinase 32 3
NIMA (Never In Mitosis Gene A)-Related Kinase 31 2     NimA-Related Protein Kinase 32 3
Glycogen Synthase A Kinase1 2     HSPK 362 3
Hydroxyalkyl-Protein Kinase1 2     EC 2.7.11.13 8
Phosphorylase B Kinase Kinase1 2     HSPK362
Serine/Threonine-Protein Kinase NEK31 2     EC 2.7.118

External Ids:    HGNC: 77461   Entrez Gene: 47522   Ensembl: ENSG000001360987   OMIM: 6040445   UniProtKB: P519563   

Export aliases for NEK3 gene to outside databases

Previous GC identifers: GC13U990024 GC13M046694 GC13M051643 GC13M050504 GC13M051604 GC13M033494


(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 NEK3 Gene:
This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The
encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found
primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2
guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2009)

GeneCards Summary for NEK3 Gene:
NEK3 (NIMA-related kinase 3) is a protein-coding gene. Diseases associated with NEK3 include muscular phosphorylase kinase deficiency, and muscle phosphorylase kinase deficiency. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is NEK4.

UniProtKB/Swiss-Prot: NEK3_HUMAN, P51956
Function: Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules.
Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2.
Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through
mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2

Gene Wiki entry for NEK3 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 at NCBI GenBank:
NC_018924.2  NC_000013.10  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEK3 gene promoter:
         PPAR-gamma1   HOXA3   AML1a   PPAR-gamma2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEK3 promoter sequence
   Search Chromatin IP Primers for NEK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEK3


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

Entrez Gene cytogenetic band: 13q14.13   Ensembl cytogenetic band:  13q14.3   HGNC cytogenetic band: 13q14.2-q21.1

NEK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEK3 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M052706:  view genomic region     (about GC identifiers)

Start:
52,706,775 bp from pter      End:
52,733,996 bp from pter
Size:
27,222 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for NEK3

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEK3_HUMAN, P51956 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase Nek3  
Size: 506 amino acids; 57705 Da
Cofactor: Magnesium
Subunit: Interacts with PXN, PRLR, VAV1 and VAV2 and this interaction is prolactin-dependent
Sequence caution: Sequence=CAI12895.1; Type=Erroneous gene model prediction; Sequence=EAX08907.1; Type=Erroneous
gene model prediction;
Secondary accessions: A8K2J4 Q5TAP2 Q8J023 Q8WUN5
Alternative splicing: 2 isoforms:  P51956-1   P51956-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NEK3: NX_P51956

Explore proteomics data for NEK3 at MOPED

Post-translational modifications: 

  • Phosphorylation at Thr-479 regulates its catalytic activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for NEK3 (P51956)
     HRDIKSKN  KSDIWSLGC  MIGEGSFGR 


    See NEK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139571.1  NP_002489.1  NP_689933.1  

    ENSEMBL proteins: 
     ENSP00000448782   ENSP00000449608   ENSP00000383210   ENSP00000449055   ENSP00000447995  
     ENSP00000449679   ENSP00000404197   ENSP00000339429   ENSP00000367341  

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    (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 3
    NIMA (never in mitosis gene a)- related kinase (NEK) family

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry P51956

    ProtoNet protein and cluster: P51956

    UniProtKB/Swiss-Prot: NEK3_HUMAN, P51956
    Similarity: Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with NEK3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEK3_HUMAN, P51956
    Function: Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules.
    Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2.
    Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through
    mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Prolactin stimulates its activity

         Genatlas biochemistry entry for NEK3:
    never in mitosis gene A-related kinase 3,predominantly cytoplasmic,widely expressed in a non dependent cell cycle
    pattern

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         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 NAS7522034
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI15618286
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with NEK3           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for NEK3:
     Decreased substrate adherent c  Increased apoptosis  Increased cell death HMECs cel  Increased number of small and  

    Animal Models:
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    miRNA
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    hsa-mir-181b-5p (MIRT047278), hsa-mir-98-5p (MIRT027849)

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    Selected qRT-PCR Assays for microRNAs that regulate NEK3 (see all 12):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-miR-26b* hsa-let-7c hsa-let-7i hsa-miR-188-3p hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidNEK3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NEK3

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    Addgene plasmids for NEK3 

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    (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
    NEK3_HUMAN, P51956: Cytoplasm (By similarity). Cell projection, axon (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7522034
    GO:0005737cytoplasm IEA--
    GO:0030424axon IEA--

    Find genes that share ontologies with NEK3           About GenesLikeMe


    (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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    SuperPaths for NEK3 About    
    See pathways by source

    SuperPathContained pathways About
    1Prolactin Signaling Pathway
    Development Prolactin receptor signaling0.39
    Prolactin Signaling Pathway0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for NEK3
        Development Prolactin receptor signaling

    1 BioSystems Pathway for NEK3
        Prolactin Signaling Pathway



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NEK3
    Interactions:

        GeneGlobe Interaction Network for NEK3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for NEK3 (P519561, 3 ENSP000003832104) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAV2P527351, 3, ENSP000003609164EBI-476041,EBI-297549 I2D: score=2 STRING: ENSP00000360916
    VAV1P154983, ENSP000003022694I2D: score=1 STRING: ENSP00000302269
    CSN2P058143, ENSP000003410304I2D: score=1 STRING: ENSP00000341030
    PRLRP164713, ENSP000003714324I2D: score=3 STRING: ENSP00000371432
    BPGMENSP000003420324STRING: ENSP00000342032
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0007049cell cycle ----
    GO:0007067mitosis NAS7522034

    Find genes that share ontologies with NEK3           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for NEK3

    3 HMDB Compounds for NEK3    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--

    5 Novoseek inferred chemical compound relationships for NEK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 72.7 8 1905390 (1), 10832587 (1), 10487978 (1), 2122111 (1) (see all 5)
    lactate 27.2 2 15199064 (1), 8795843 (1)
    creatinine 7.05 1 15199064 (1)
    calcium 5.32 3 9334188 (1), 2122111 (1)
    serine 0 2 15618286 (1)



    Find genes that share compounds with NEK3           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NEK3 gene (3 alternative transcripts): 
    NM_001146099.1  NM_002498.2  NM_152720.2  

    Unigene Cluster for NEK3:

    NIMA-related kinase 3
    Hs.409989  [show with all ESTs]
    Unigene Representative Sequence: AK131359
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258597 ENST00000548127(uc010tgx.2 uc010tgy.2) ENST00000550331
    ENST00000400357 ENST00000547820 ENST00000551355 ENST00000552973 ENST00000550841
    ENST00000452082(uc001vgh.3) ENST00000339406 ENST00000378101(uc001vgi.3)

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    Selected qRT-PCR Assays for microRNAs that regulate NEK3 (see all 12):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-miR-26b* hsa-let-7c hsa-let-7i hsa-miR-188-3p hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidNEK3 3' UTR sequence
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    Additional mRNA sequence: 

    AB072828.1 AK131359.1 AK290259.1 BC019916.1 NR_027415.1 Z25434.1 Z29067.1 

    8 DOTS entries:

    DT.114332  DT.100786893  DT.100715201  DT.95351264  DT.100661681  DT.100786890  DT.120793542  DT.75116772 

    Selected AceView cDNA sequences (see all 102):

    BQ432111 AI474772 AA429561 AA774582 CB215347 BF111674 AI865107 AB072828 
    AI360208 BU608251 BM696814 AI141017 AI801489 BI754945 BX364188 AI248318 
    CR606903 AW043698 CF529717 AI393796 BX395060 NM_002498 BU622080 BM662593 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NEK3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:        -     -                                                                                                                     
    SP2:                                                                                            -                                       
    SP3:                          -                                                                                                         
    SP4:                                                                                            -                 -                     
    SP5:              -                                                                                                                     


    ECgene alternative splicing isoforms for NEK3

    (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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    NEK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGACGTATAT
    NEK3 Expression
    About this image


    NEK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Brain (Nervous System)
             Cerebral Cortex
    NEK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409989

    UniProtKB/Swiss-Prot: NEK3_HUMAN, P51956
    Tissue specificity: Up-regulated in malignant versus normal breast tissue. Isoform 2 shows a high level of
    expression in testis, ovary and brain

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEK3

    (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 eukaryotes.

    Orthologs for NEK3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nek31 , 5 NIMA (never in mitosis gene a)-related expressed kinase more1, 5 79.45(n)1
    75.86(a)1
      8 (11.07 cM)5
    239541  NM_011848.41  NP_035978.21 
     221282835 
    chicken
    (Gallus gallus)
    Aves NEK31 NIMA (never in mitosis gene a)-related kinase 3 68.44(n)
    63.93(a)
      770196  XM_001232685.3  XP_001232686.2 
    lizard
    (Anolis carolinensis)
    Reptilia NEK36
    NIMA-related kinase 3
    64(a)
    1 ↔ 1
    1(132741258-132761897)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.199642 Transcribed sequence with weak similarity to protein more 77.7(n)    CF221766.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005368941 serine/threonine-protein kinase Nek3-like 68.68(n)
    69.78(a)
      100536894  XM_003200001.2  XP_003200049.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NEK51 NEK5 47.95(n)
    38.49(a)
      821634  NM_112977.1  NP_188722.1 


    ENSEMBL Gene Tree for NEK3 (if available)
    TreeFam Gene Tree for NEK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEK3 gene
    NEK42  NEK62  NEK12  NEK112  NEK72  NEK52  NEK22  NEK82  
    NEK102  NEK92  
    Selected SIMAP similar genes for NEK3 using alignment to 7 protein entries:     NEK3_HUMAN (see all proteins) (see all similar genes):
    DKFZp434B079    DKFZp564L2416    NEK1    NEK5    NEK9    NEK8
    NEK4    SGK2    RPS6KA3    NEK6    MARK4    CDC42BPA
    NEK11    STK11    NEK7    RPS6KA6    PRKACB    AKT1

    Find genes that share paralogs with NEK3           About GenesLikeMe



    (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 NEK3 (see all 629)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18865421,2
    C,F,A,H--52706281(-) ACATCT/GTTTAA 4 -- ds5001 int120Minor allele frequency- G:0.37NS EA NA CSA WA 2340
    rs1177634081,2
    C,F--52706384(+) GCTCAC/TGTCTC 4 -- ds5001 int11Minor allele frequency- T:0.02NA 120
    rs1911499721,2
    --52706390(+) GTCTCC/TTTGAG 4 -- ds5001 int10--------
    rs1997662911,2
    --52706392(+) CTCTT-/TGAGAGG 4 -- ds5001 int10--------
    rs1385712211,2
    --52706403(+) GTGTTC/GAGCGA 4 -- ds5001 int10--------
    rs1824582611,2
    --52706433(+) ATATTC/GTCATC 4 -- ds5001 int10--------
    rs562630931,2
    C,F--52706454(+) GCACAC/GTATTA 4 -- ds5001 int12Minor allele frequency- G:0.04WA 120
    rs735001751,2
    C--52706497(+) TGTGCG/ACCATG 4 -- ds5001 int12Minor allele frequency- A:0.04WA 120
    rs1883266641,2
    --52706516(+) TATTCA/GTTCCA 4 -- ds5001 int10--------
    rs1416729311,2
    --52706546(+) ATATTC/TACCAT 4 -- ds5001 int10--------

    HapMap Linkage Disequilibrium report for NEK3 (52706775 - 52733996 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NEK3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428288CNV Loss18775914
    nsv900082CNV Gain21882294

    Human Gene Mutation Database (HGMD): NEK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEK3
    DNA2.0 Custom Variant and Variant Library Synthesis for NEK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604044    OMIM disorders: --

    4 diseases for NEK3:    
    About MalaCards
    muscular phosphorylase kinase deficiency    muscle phosphorylase kinase deficiency    phosphorylase kinase deficiency    muscle glycogenosis


    Find genes that share disorders with NEK3           About GenesLikeMe

    5 Novoseek inferred disease relationships for NEK3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen storage disease 87 7 1905390 (1), 10832587 (1), 9847997 (1), 9019646 (1) (see all 6)
    glycogen storage disease type i 72.9 3 8362811 (2), 1905390 (1)
    enzyme deficiency 69.6 2 9847997 (1), 8795843 (1)
    hepatomegaly 55.6 1 2252364 (1)
    hypoglycemia 31.3 1 7562285 (1)

    Genetic Association Database (GAD): NEK3
    Human Genome Epidemiology (HuGE) Navigator: NEK3 (2 documents)

    Export disorders for NEK3 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 NEK3 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with NEK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cell cycle-dependent expression of Nek2, a novel human protein kinase related to the NIMA mitotic regulator of Aspergillus nidulans. (PubMed id 7522034)1, 2, 3, 9 Schultz S.J.... Nigg E.A. (Cell Growth Differ. 1994)
    2. Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans. (PubMed id 8274451)1, 2, 3 Schultz S.J. and Nigg E.A. (Cell Growth Differ. 1993)
    3. Novel association of Vav2 and Nek3 modulates signaling through the human prolactin receptor. (PubMed id 15618286)1, 2, 9 Miller S.L.... Clevenger C.V. (Mol. Endocrinol. 2005)
    4. Molecular cloning and characterization of the human NIMA-related protein kinase 3 gene (NEK3). (PubMed id 12063396)1, 2, 9 Kimura M. and Okano Y. (Cytogenet. Cell Genet. 2001)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Nek3 kinase regulates prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells. (PubMed id 17297458)1, 2 Miller S.L....Clevenger C.V. (Oncogene 2007)
    7. 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)
    8. A regulatory circuit that involves HR23B and HDAC6 governs the biological response to HDAC inhibitors. (PubMed id 23703321)1 New M....La Thangue N.B. (Cell Death Differ. 2013)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4752 HGNC: 7746 AceView: NEK3 Ensembl:ENSG00000136098 euGenes: HUgn4752
    ECgene: NEK3 H-InvDB: NEK3

    (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 NEK3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NEK3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NEK3 gene:
    Search GeneIP for patents involving NEK3

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



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