Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NEK2 Gene

Aliases for NEK2 Gene

  • NIMA Related Kinase 2 2 3 5
  • NIMA (Never In Mitosis Gene A)-Related Kinase 2 2 3
  • Protein Phosphatase 1, Regulatory Subunit 111 2 3
  • NimA-Related Protein Kinase 2 3 4
  • NimA-Like Protein Kinase 1 3 4
  • EC 2.7.11.1 4 61
  • HsPK 21 2 4
  • NEK2A 3 4
  • NLK1 3 4
  • Serine/Threonine-Protein Kinase Nek2 3
  • Never In Mitosis A-Related Kinase 2 4
  • EC 2.7.11 61
  • PPP1R111 3
  • HsPK21 3
  • RP67 3

External Ids for NEK2 Gene

Previous GeneCards Identifiers for NEK2 Gene

  • GC01M210565
  • GC01M207702
  • GC01M208475
  • GC01M208915
  • GC01M208224
  • GC01M209902
  • GC01M211836
  • GC01M182513

Summaries for NEK2 Gene

Entrez Gene Summary for NEK2 Gene

  • This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for NEK2 Gene

NEK2 (NIMA Related Kinase 2) is a Protein Coding gene. Diseases associated with NEK2 include Retinitis Pigmentosa 67 and Nek-Related Retinitis Pigmentosa. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and APC-Cdc20 mediated degradation of Nek2A. 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 NEK2 Gene

  • Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856).

  • Isoform 1: Phosphorylates and activates NEK11 in G1/S-arrested cells.

  • Isoform 2: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells.

Gene Wiki entry for NEK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEK2 Gene

Genomics for NEK2 Gene

Regulatory Elements for NEK2 Gene

Enhancers for NEK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G211646 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +27.0 26997 4.7 SIN3A ARID4B GATA2 ZNF143 FOS NFYC REST PPARG TBX21 MIER3 SNORA16B SLC30A1 ENSG00000223649 RD3 LOC91548 NEK2 ENSG00000228792 FDPSP8
GH01G211927 1.6 Ensembl ENCODE dbSUPER 11 -253.8 -253828 3.7 HDGF FOXA2 ARNT ARID4B FEZF1 DMAP1 YY1 ZNF766 FOS SP5 LOC102723727 LPGAT1 NEK2 LOC91548 ENSG00000212187 INTS7 ENSG00000233626 PIR53279
GH01G211738 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -63.9 -63871 2.7 FEZF1 CHD7 ZIC2 ZNF664 ZNF316 ZFHX2 FOS NFE2 MAFK EGR2 ENSG00000212187 LOC91548 NEK2 LPGAT1 PIR57135 PIR47428
GH01G211641 1.5 Ensembl ENCODE dbSUPER 10.5 +32.2 32160 4.3 ATF1 MLX ARID4B FEZF1 ZNF48 YY1 TCF12 ZNF121 SLC30A9 GLIS2 SLC30A1 ENSG00000223649 RD3 LOC91548 NEK2 ENSG00000228792 FDPSP8
GH01G212029 1.5 Ensembl ENCODE dbSUPER 10.4 -355.6 -355575 2.5 FOXA2 ATF1 FOS DEK CAVIN1 JUNB PPARG ZNF518A KAT8 ZNF592 NEK2 LOC91548 RCOR3 INTS7 DTL ENSG00000212187
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEK2 on UCSC Golden Path with GeneCards custom track

Promoters for NEK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000019601 30 1201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 ZNF143 SP3 NFYC MEF2D GLIS1

Genomic Location for NEK2 Gene

Chromosome:
1
Start:
211,658,256 bp from pter
End:
211,675,630 bp from pter
Size:
17,375 bases
Orientation:
Minus strand

Genomic View for NEK2 Gene

Genes around NEK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEK2 Gene

Proteins for NEK2 Gene

  • Protein details for NEK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51955-NEK2_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Nek2
    Protein Accession:
    P51955
    Secondary Accessions:
    • Q53FD6
    • Q5I1Z9
    • Q5VXZ1
    • Q6NZX8
    • Q7Z634
    • Q86XH2
    • Q96QN9

    Protein attributes for NEK2 Gene

    Size:
    445 amino acids
    Molecular mass:
    51763 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Isoform 1, isoform 2 and isoform 4 form homo- and heterodimers. Interacts with NECAB3 and HMGA2 (By similarity). Isoform 1 interacts with CDC20, CTNB1, MAD1L1, MAPK, NEK11, NPM1, NDC80, PCNT and SGO1 (PubMed:14978040, PubMed:15358203, PubMed:15388344, PubMed:15161910, PubMed:17621308, PubMed:18086858, PubMed:18297113, PubMed:20599736, PubMed:20034488). Isoform 1 interacts with STK3/MST2 (via SARAH domain) and SAV1 (via SARAH domain) (PubMed:21076410). Isoform 1 and isoform 2 interact with MAD2L1 (PubMed:20034488). Isoform 1 and isoform 4 interact with PPP1CA and PPP1CC (PubMed:15659832, PubMed:17283141). Interacts with CEP68; the interaction leads to phosphorylation of CEP68. Interacts with CNTLN; the interaction leads to phosphorylation of CNTLN (PubMed:24554434). Isoform 1 interacts with CEP85 (PubMed:26220856).
    SequenceCaution:
    • Sequence=AAH65932.1; Type=Frameshift; Positions=213; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEK2 Gene

    Alternative splice isoforms for NEK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEK2 Gene

Selected DME Specific Peptides for NEK2 Gene

P51955:
  • LGDFGLA
  • GTPYYMSPE
  • KSDIWSLGC
  • VLHRDLK

Post-translational modifications for NEK2 Gene

  • Activated by autophosphorylation. Protein phosphatase 1 represses autophosphorylation and activation of isoform 1 by dephosphorylation. Phosphorylation by STK3/MST2 is necessary for its localization to the centrosome.
  • Ubiquitination at posLast=3737, posLast=152152, Lys174, posLast=359359, and posLast=362362
  • Modification sites at PhosphoSitePlus

Other Protein References for NEK2 Gene

Antibody Products

  • Abcam antibodies for NEK2

Domains & Families for NEK2 Gene

Protein Domains for NEK2 Gene

Suggested Antigen Peptide Sequences for NEK2 Gene

Graphical View of Domain Structure for InterPro Entry

P51955

UniProtKB/Swiss-Prot:

NEK2_HUMAN :
  • The leucine-zipper domain is required for its dimerization and activation.
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Domain:
  • The leucine-zipper domain is required for its dimerization and activation.
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
genes like me logo Genes that share domains with NEK2: view

Function for NEK2 Gene

Molecular function for NEK2 Gene

GENATLAS Biochemistry:
never in mitosis gene A-related kinase 2,Aspergillus nidulans NIMA ortholog,located to the centrosome,expressed in a cell-cycle dependent pattern,undetectable during G1,appearing in S,reacting maximum levels in late G2
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform 1 is inhibited by ionizing radiation in the presence of PPP1CA. Its catalytic activity is inhibited by the inhibitor CCT241950. In the presence of this inhibitor, displays an autoinhibited conformation: Tyr-70 side chain points into the active site, interacts with the activation loop, and blocks the alphaC helix.
UniProtKB/Swiss-Prot Function:
Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856).
UniProtKB/Swiss-Prot Function:
Isoform 1: Phosphorylates and activates NEK11 in G1/S-arrested cells.
UniProtKB/Swiss-Prot Function:
Isoform 2: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells.
UniProtKB/Swiss-Prot Induction:
Expression and activity peak in the G2 phase of the mitotic cycle and decrease once the cells have entered mitosis due to degradation by the anaphase promoting complex APC/C-CDC20. In G1 phase, both isoform 1 and isoform 2 are almost undetectable. However, at the G1/S transition, there is an increase in expression of both isoforms which then remain at this increased level throughout S and G2. At the onset of mitosis, isoform 1 undergoes a rapid disappearance whereas isoform 2 continues to be present at about the same level as in G2. During the rest of mitosis, isoform 1 remains absent, while isoform 2 only begins to decline upon re-entry into the next G1 phase.

Enzyme Numbers (IUBMB) for NEK2 Gene

Gene Ontology (GO) - Molecular Function for NEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IMP,IEA 24554434
GO:0004674 protein serine/threonine kinase activity TAS 16280549
GO:0005515 protein binding IPI 9647649
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NEK2: view
genes like me logo Genes that share phenotypes with NEK2: view

Human Phenotype Ontology for NEK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NEK2

CRISPR Products

miRNA for NEK2 Gene

miRTarBase miRNAs that target NEK2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NEK2 Gene

Localization for NEK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEK2 Gene

Isoform 1: Nucleus. Nucleus, nucleolus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Chromosome, centromere, kinetochore. Chromosome, centromere. Note=STK3/MST2 and SAV1 are required for its targeting to the centrosome. Colocalizes with SGO1 and MAD1L1 at the kinetochore. Not associated with kinetochore in the interphase but becomes associated with it upon the breakdown of the nuclear envelope. Has a nucleolar targeting/ retention activity via a coiled-coil domain at the C-terminal end.
Isoform 2: Cytoplasm. Note=Predominantly cytoplasmic.
Isoform 4: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Predominantly nuclear.

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 NEK2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for NEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore IEA,IDA 17621308
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000794 condensed nuclear chromosome IEA --
GO:0000922 spindle pole IEA --
genes like me logo Genes that share ontologies with NEK2: view

Pathways & Interactions for NEK2 Gene

genes like me logo Genes that share pathways with NEK2: view

SIGNOR curated interactions for NEK2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NEK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IEA --
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS 9430639
GO:0001824 blastocyst development IEA --
GO:0006468 protein phosphorylation IEA,IMP 24554434
genes like me logo Genes that share ontologies with NEK2: view

Drugs & Compounds for NEK2 Gene

(6) Drugs for NEK2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
5-[(Z)-(5-CHLORO-2-OXO-1,2-DIHYDRO-3H-INDOL-3-YLIDENE)METHYL]-N-(DIETHYLAMINO)ETHYL]-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXAMIDE Experimental Pharma Target 0
INH6 Pharma 0
Magnesium Nutra 0

(1) Additional Compounds for NEK2 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

(1) ApexBio Compounds for NEK2 Gene

Compound Action Cas Number
INH6 1001753-24-7
genes like me logo Genes that share compounds with NEK2: view

Transcripts for NEK2 Gene

Unigene Clusters for NEK2 Gene

NIMA-related kinase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEK2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - -
SP6: -
SP7:

Relevant External Links for NEK2 Gene

GeneLoc Exon Structure for
NEK2
ECgene alternative splicing isoforms for
NEK2

Expression for NEK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NEK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEK2 Gene

This gene is overexpressed in Testis (x17.5).

Protein differential expression in normal tissues from HIPED for NEK2 Gene

This gene is overexpressed in Plasma (58.0) and Uterus (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NEK2 Gene



Protein tissue co-expression partners for NEK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NEK2 Gene:

NEK2

SOURCE GeneReport for Unigene cluster for NEK2 Gene:

Hs.153704

mRNA Expression by UniProt/SwissProt for NEK2 Gene:

P51955-NEK2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in peripheral blood T-cells and a wide variety of transformed cell types. Isoform 1 and isoform 4 are expressed in the testis. Up-regulated in various cancer cell lines, as well as primary breast tumors.

Evidence on tissue expression from TISSUES for NEK2 Gene

  • Blood(4.1)
  • Skin(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with NEK2: view

Primer Products

Orthologs for NEK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NEK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEK2 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia NEK2 34 35
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia NEK2 34 35
  • 89.01 (n)
oppossum
(Monodelphis domestica)
Mammalia NEK2 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nek2 34 16 35
  • 83.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEK2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEK2 34 35
  • 71.63 (n)
lizard
(Anolis carolinensis)
Reptilia NEK2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nek2 34
  • 68.11 (n)
Str.3912 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53202 34
zebrafish
(Danio rerio)
Actinopterygii nek2 34 35
  • 64.84 (n)
zgc55602 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2217 34
fruit fly
(Drosophila melanogaster)
Insecta Nek2 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC581.1 36
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KIN3 35 37
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fin1 34
  • 49.19 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11998 34
Species where no ortholog for NEK2 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)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 NEK2 Gene

ENSEMBL:
Gene Tree for NEK2 (if available)
TreeFam:
Gene Tree for NEK2 (if available)

Paralogs for NEK2 Gene

Paralogs for NEK2 Gene

(20) SIMAP similar genes for NEK2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NEK2: view

Variants for NEK2 Gene

Sequence variations from dbSNP and Humsavar for NEK2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs398122961 Pathogenic 211,671,216(-) CTTGC(A/TGTATGAG)TTATG reference, frameshift-variant
rs1000313915 -- 211,677,087(+) GCTTG(C/T)TGTGG nc-transcript-variant, upstream-variant-2KB
rs1000674023 -- 211,673,984(+) TATAC(C/G)TGGCT intron-variant, upstream-variant-2KB
rs1000771069 -- 211,658,245(+) ATTCC(A/G)GAAAA downstream-variant-500B
rs1000935500 -- 211,662,638(+) GCGCC(A/T)TACAG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NEK2 Gene

Variant ID Type Subtype PubMed ID
nsv945280 CNV duplication 23825009

Variation tolerance for NEK2 Gene

Residual Variation Intolerance Score: 39.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEK2 Gene

Human Gene Mutation Database (HGMD)
NEK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEK2 Gene

Disorders for NEK2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NEK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 67
  • rp67
nek-related retinitis pigmentosa
  • retinitis pigmentosa 67
retinitis pigmentosa
  • retinitis pigmentosa 1
plexiform neurofibroma
  • neurofibroma plexiform
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
- elite association - COSMIC cancer census association via MalaCards
Search NEK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEK2_HUMAN
  • Retinitis pigmentosa 67 (RP67) [MIM:615565]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:24043777}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NEK2

Genetic Association Database (GAD)
NEK2
Human Genome Epidemiology (HuGE) Navigator
NEK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEK2
genes like me logo Genes that share disorders with NEK2: view

No data available for Genatlas for NEK2 Gene

Publications for NEK2 Gene

  1. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. (PMID: 24043777) Nishiguchi K.M. … Rivolta C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 4 64
  2. beta-Catenin is a Nek2 substrate involved in centrosome separation. (PMID: 18086858) Bahmanyar S. … Barth A.I. (Genes Dev. 2008) 3 4 22 64
  3. Structure and regulation of the human Nek2 centrosomal kinase. (PMID: 17197699) Rellos P. … Smerdon S.J. (J. Biol. Chem. 2007) 3 4 22 64
  4. Protein phosphatase-1alpha regulates centrosome splitting through Nek2. (PMID: 17283141) Mi J. … Larner J.M. (Cancer Res. 2007) 3 4 22 64
  5. Alternative splice variants of the human centrosome kinase Nek2 exhibit distinct patterns of expression in mitosis. (PMID: 11742531) Hames R.S. … Fry A.M. (Biochem. J. 2002) 3 4 22 64

Products for NEK2 Gene

Sources for NEK2 Gene

Content
Loading form....