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Aliases for NEK4 Gene

Aliases for NEK4 Gene

  • NIMA Related Kinase 4 2 3 5
  • NIMA (Never In Mitosis Gene A)-Related Kinase 4 2 3
  • Serine/Threonine-Protein Kinase NRK2 3 4
  • Never In Mitosis A-Related Kinase 4 3 4
  • Serine/Threonine Protein Kinase-2 2 3
  • NimA-Related Protein Kinase 4 3 4
  • Serine/Threonine Kinase 2 2 3
  • EC 2.7.11.1 4 56
  • STK2 3 4
  • Serine/Threonine-Protein Kinase Nek4 Variant 2 3
  • Serine/Threonine-Protein Kinase Nek4 3
  • Serine/Threonine-Protein Kinase 2 4
  • EC 2.7.11 56
  • Pp12301 3
  • NRK2 3

External Ids for NEK4 Gene

Previous HGNC Symbols for NEK4 Gene

  • STK2

Previous GeneCards Identifiers for NEK4 Gene

  • GC03M051836
  • GC03M051996
  • GC03M052599
  • GC03M052702
  • GC03M052719

Summaries for NEK4 Gene

Entrez Gene Summary for NEK4 Gene

  • The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]

GeneCards Summary for NEK4 Gene

NEK4 (NIMA Related Kinase 4) is a Protein Coding gene. Diseases associated with NEK4 include Retinitis Pigmentosa 23 and Meckel Syndrome, Type 1. Among its related pathways are Sweet Taste Signaling. Gene Ontology (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 NEK1.

UniProtKB/Swiss-Prot for NEK4 Gene

  • Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage.

Additional gene information for NEK4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEK4 Gene

Genomics for NEK4 Gene

GeneHancer (GH) Regulatory Elements for NEK4 Gene

Promoters and enhancers for NEK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I052769 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 62 2.1 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B NEK4 PBRM1 RRP9 RFT1 ITIH3 ITIH4-AS1 ENSG00000243696 ITIH4 SNORD69 GNL3
GH03I053345 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 10.4 -576.4 -576376 2.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 DCP1A NISCH PBRM1 ENSG00000271976 RFT1 PHF7 ENSG00000212608 PRKCD NEK4 ACTR8
GH03I053140 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -370.2 -370152 1.4 HDGF ZSCAN26 ZSCAN4 ZNF133 MAX PAX8 SALL2 EBF1 ZFHX2 FOXK2 GLT8D1 RFT1 NISCH PRKCD ACTR8 NEK4 STIMATE ITIH4 DCP1A ITIH3
GH03I052061 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.9 +708.4 708363 2.5 ZBTB6 JUN KLF17 FOSL1 ZFHX2 ZNF23 FOSL2 FOS MAFK IKZF2 NEK4 GPR62 LINC00696 DUSP7
GH03I052528 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 4.3 +237.3 237296 9.6 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NT5DC2 SMIM4 PBRM1 STAB1 ITIH4 ITIH1 GNL3 NEK4 RPL29 PIR41495
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NEK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NEK4 gene promoter:

Genomic Locations for NEK4 Gene

Genomic Locations for NEK4 Gene
chr3:52,708,449-52,770,949
(GRCh38/hg38)
Size:
62,501 bases
Orientation:
Minus strand
chr3:52,744,796-52,804,965
(GRCh37/hg19)

Genomic View for NEK4 Gene

Genes around NEK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEK4 Gene

Proteins for NEK4 Gene

  • Protein details for NEK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51957-NEK4_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Nek4
    Protein Accession:
    P51957
    Secondary Accessions:
    • A5YM70
    • B2R633
    • B7Z200
    • Q6P576

    Protein attributes for NEK4 Gene

    Size:
    841 amino acids
    Molecular mass:
    94597 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with RPGRIP1 and RPGRIP1L.

    Alternative splice isoforms for NEK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEK4 Gene

Selected DME Specific Peptides for NEK4 Gene

P51957:
  • ILHRDLK
  • GTPYYMSPE

Post-translational modifications for NEK4 Gene

No Post-translational modifications

Domains & Families for NEK4 Gene

Gene Families for NEK4 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P51957

UniProtKB/Swiss-Prot:

NEK4_HUMAN :
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
genes like me logo Genes that share domains with NEK4: view

Function for NEK4 Gene

Molecular function for NEK4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage.

Enzyme Numbers (IUBMB) for NEK4 Gene

Phenotypes From GWAS Catalog for NEK4 Gene

Gene Ontology (GO) - Molecular Function for NEK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity ISS,TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NEK4: view
genes like me logo Genes that share phenotypes with NEK4: view

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NEK4 Gene

Localization for NEK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEK4 Gene

Cell projection, cilium. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEK4 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NEK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005829 cytosol IDA --
GO:0005929 cilium IEA --
GO:0035253 ciliary rootlet IEA --
GO:0035869 ciliary transition zone IEA --
genes like me logo Genes that share ontologies with NEK4: view

Pathways & Interactions for NEK4 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
genes like me logo Genes that share pathways with NEK4: view

Pathways by source for NEK4 Gene

1 Qiagen pathway for NEK4 Gene

Gene Ontology (GO) - Biological Process for NEK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 22851694
GO:0006468 protein phosphorylation ISS --
GO:0006974 cellular response to DNA damage stimulus IMP 22851694
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IBA --
genes like me logo Genes that share ontologies with NEK4: view

No data available for SIGNOR curated interactions for NEK4 Gene

Drugs & Compounds for NEK4 Gene

(2) Drugs for NEK4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for NEK4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with NEK4: view

Transcripts for NEK4 Gene

Unigene Clusters for NEK4 Gene

NIMA-related kinase 4:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEK4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: -

Relevant External Links for NEK4 Gene

GeneLoc Exon Structure for
NEK4
ECgene alternative splicing isoforms for
NEK4

Expression for NEK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NEK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEK4 Gene

This gene is overexpressed in Adipocyte (25.5), Testis (15.0), Tlymphocyte (12.4), and Peripheral blood mononuclear cells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NEK4 Gene



Protein tissue co-expression partners for NEK4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NEK4 Gene:

NEK4

SOURCE GeneReport for Unigene cluster for NEK4 Gene:

Hs.631921

mRNA Expression by UniProt/SwissProt for NEK4 Gene:

P51957-NEK4_HUMAN
Tissue specificity: Highest expression in adult heart, followed by pancreas, skeletal muscle, brain, testis, retina, liver, kidney, lung and placenta. Present in most primary carcinomas.

Evidence on tissue expression from TISSUES for NEK4 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with NEK4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEK4 Gene

Orthologs for NEK4 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEK4 33
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia NEK4 33 34
  • 86.87 (n)
dog
(Canis familiaris)
Mammalia NEK4 33 34
  • 86.74 (n)
mouse
(Mus musculus)
Mammalia Nek4 16 34 33
  • 82.61 (n)
rat
(Rattus norvegicus)
Mammalia Nek4 33
  • 81.08 (n)
oppossum
(Monodelphis domestica)
Mammalia NEK4 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEK4 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEK4 33 34
  • 65.24 (n)
lizard
(Anolis carolinensis)
Reptilia NEK4 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nek4 33
  • 56.57 (n)
Str.18724 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18997 33
zebrafish
(Danio rerio)
Actinopterygii nek4 33 34
  • 67.59 (n)
-- 33
worm
(Caenorhabditis elegans)
Secernentea Y39G10AR.4 35
  • 42 (a)
ZC581.1 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
OneToOne
Species where no ortholog for NEK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 NEK4 Gene

ENSEMBL:
Gene Tree for NEK4 (if available)
TreeFam:
Gene Tree for NEK4 (if available)

Paralogs for NEK4 Gene

Paralogs for NEK4 Gene

genes like me logo Genes that share paralogs with NEK4: view

Variants for NEK4 Gene

Sequence variations from dbSNP and Humsavar for NEK4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs770418305 likely-pathogenic, Ciliopathy 52,741,487(-) T/TT coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant
VAR_040921 A colorectal adenocarcinoma sample p.Arg777Lys
rs1000011731 -- 52,715,492(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000040160 -- 52,722,395(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000054705 -- 52,758,402(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NEK4 Gene

Variant ID Type Subtype PubMed ID
nsv834698 CNV gain 17160897
nsv508928 CNV insertion 20534489
nsv508219 CNV deletion 20534489
nsv1010761 CNV gain 25217958
esv3596162 CNV loss 21293372
esv2762328 CNV loss 21179565

Variation tolerance for NEK4 Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.57; 88.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEK4 Gene

Human Gene Mutation Database (HGMD)
NEK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEK4 Gene

Disorders for NEK4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NEK4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 23
  • rp23
meckel syndrome, type 1
  • mks1
- elite association - COSMIC cancer census association via MalaCards
Search NEK4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEK4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEK4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEK4 Gene

Publications for NEK4 Gene

  1. Two novel human serine/threonine kinases with homologies to the cell cycle regulating Xenopus MO15, and NIMA kinases: cloning and characterization of their expression pattern. (PMID: 8208544) Levedakou EN … Lewis TB (Oncogene 1994) 2 3 4 58
  2. Nek4 regulates entry into replicative senescence and the response to DNA damage in human fibroblasts. (PMID: 22851694) Nguyen CL … Hahn WC (Molecular and cellular biology 2012) 3 4 58
  3. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. (PMID: 21685204) Coene KL … Roepman R (Human molecular genetics 2011) 3 4 58
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58

Products for NEK4 Gene

  • Addgene plasmids for NEK4

Sources for NEK4 Gene

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