Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CEP250 Gene

protein-coding   GIFtS: 54
GCID: GC20P034042

Centrosomal Protein 250kDa

(Previous name: centrosomal protein 2)
(Previous symbol: CEP2)
  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)
About This Section

TryGeneCards Plus

Aliases
Centrosomal Protein 250kDa1 2     Centrosome Associated Protein2
CEP21 2 3 5     Centrosome-Associated Protein CEP2502
CNAP12 3 5     C-Nap13
Centrosomal Protein 21 3     Cep2503
Centrosomal Nek2-Associated Protein 12 3     EC 2.6.1.98
250 KDa Centrosomal Protein2 3     EC 3.1.1.618
C-NAP12     EC 4.3.2.18
Centrosomal Protein, 250-KD2     

External Ids:    HGNC: 18591   Entrez Gene: 111902   Ensembl: ENSG000001260017   OMIM: 6096895   UniProtKB: Q9BV733   

Export aliases for CEP250 gene to outside databases

Previous GC identifers: GC20P033507 GC20P030820


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CEP250 Gene:
This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the
cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the
beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also
associated with the centrosome. (provided by RefSeq, Jun 2009)

GeneCards Summary for CEP250 Gene:
CEP250 (centrosomal protein 250kDa) is a protein-coding gene. Diseases associated with CEP250 include inflammatory bowel disease, and ovarian cancer. GO annotations related to this gene include protein kinase binding and protein C-terminus binding. An important paralog of this gene is LOC728763.

UniProtKB/Swiss-Prot: CP250_HUMAN, Q9BV73
Function: Probably plays an important role in centrosome cohesion during interphase

Gene Wiki entry for CEP250 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP250 gene promoter:
         NF-1   Sox9   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP250 promoter sequence
   Search Chromatin IP Primers for CEP250

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP250


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

CEP250 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP250 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P034042:  view genomic region     (about GC identifiers)

Start:
34,042,985 bp from pter      End:
34,099,804 bp from pter
Size:
56,820 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, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CP250_HUMAN, Q9BV73 (See protein sequence)
Recommended Name: Centrosome-associated protein CEP250  
Size: 2442 amino acids; 281137 Da
Subunit: Monomer and homodimer (Probable). Interacts with CROCC/rootletin (By similarity). Forms a complex in
vitro with both NEK2 kinase and the PPP1CC catalytic subunit of protein phosphatase 1 (PP1). Interacts with
CEP135
Miscellaneous: Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed
autoantibodies against centrosomal proteins
Secondary accessions: E1P5Q3 O14812 O60588 Q9H450
Alternative splicing: 2 isoforms:  Q9BV73-1   Q9BV73-2   

Explore the universe of human proteins at neXtProt for CEP250: NX_Q9BV73

Explore proteomics data for CEP250 at MOPED

Post-translational modifications: 

  • Differentially phosphorylated during cell cycle. Phosphorylation may regulate association/dissociation from
    centrosome. During M phase of mitosis, C-terminal part is phosphorylated by NEK2, suggesting that it may trigger
    the dissociation from the mitotic centrosome. Dephosphorylated in vitro by the PP1 phosphatase1
  • Ubiquitination2 at Lys1148, Lys1577
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for CEP250 (Q9BV73)
     QALEEVL  CLRLTVG  QQLQQAL 


    See CEP250 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009117.2  
    ENSEMBL proteins: 
     ENSP00000398747   ENSP00000414651   ENSP00000380661   ENSP00000419137   ENSP00000380658  
     ENSP00000413827   ENSP00000400200   ENSP00000394346   ENSP00000395992   ENSP00000341541  
    Reactome Protein details: Q9BV73

    CEP250 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CEP250
    GenScript Custom Purified and Recombinant Proteins Services for CEP250
    Novus Biologicals CEP250 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CEP250

    CEP250 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CEP250
    Novus Biologicals CEP250 Antibody
    Abcam antibodies for CEP250
    Cloud-Clone Corp. Antibodies for CEP250
    Search ThermoFisher Antibodies for CEP250
    Search LSBio for Antibodies for CEP250

    CEP250 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CEP250
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CEP250
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CEP250
    Cloud-Clone Corp. CLIAs for CEP250


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR026048 CEP250

    Graphical View of Domain Structure for InterPro Entry Q9BV73

    ProtoNet protein and cluster: Q9BV73


    CEP250 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP250_HUMAN, Q9BV73
    Function: Probably plays an important role in centrosome cohesion during interphase

         Enzyme Numbers (IUBMB): EC 4.3.2.12 EC 3.1.1.612 EC 2.6.1.92

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10880350
    GO:0008022protein C-terminus binding IPI18851962
    GO:0019901protein kinase binding IPI9647649
         
    CEP250 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP250
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CEP250

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEP250
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CEP250

    miRNA
    Products:
        
    miRTarBase miRNAs that target CEP250:
    hsa-mir-484 (MIRT042169), hsa-mir-615-3p (MIRT040255), hsa-mir-222-3p (MIRT046692)

    Block miRNA regulation of human, mouse, rat CEP250 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate CEP250:
    hsa-miR-653 hsa-miR-182 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidCEP250 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CEP250
    Predesigned siRNA for gene silencing in human, mouse, rat CEP250

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CEP250

    Clone
    Products:
         
    OriGene clones in human, mouse for CEP250 (see all 8)
    OriGene ORF clones in mouse, rat for CEP250
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEP250 (NM_007186)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP250
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CEP250

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CEP250
    Browse ESI BIO Cell Lines and PureStem Progenitors for CEP250 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP250


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CP250_HUMAN, Q9BV73: Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, microtubule organizing center,
    centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Component of the core centrosome. In
    interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles.
    Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle
    poles. At the end of cell division, it reaccumulates at centrosomes. In photoreceptors, found at the proximal
    ends of basal bodies
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814colocalizes with centriole IDA11076968
    GO:0005815microtubule organizing center NAS9647649
    GO:0005829cytosol TAS--
    GO:0005929cilium IEA--

    CEP250 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for CEP250 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CEP250
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes



    CEP250 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CEP250
    Interactions:

        GeneGlobe Interaction Network for CEP250

    Selected Interacting proteins for CEP250 (Q9BV731, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61890 I2D: score=3 
    SIK2Q9H0K11, 3EBI-1053100,EBI-1181664 I2D: score=1 
    YWHAGP619812, 3MINT-7899812 I2D: score=1 
    YWHAHQ049172, 3MINT-7899812 I2D: score=1 
    YWHAQP273482, 3MINT-7899812 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0008104protein localization IMP18851962
    GO:0010457centriole-centriole cohesion IMP11076968
    GO:0030997regulation of centriole-centriole cohesion IDA9647649

    CEP250 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CEP250 (CP250)



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CEP250 gene (2 alternative transcripts): 
    NM_007186.4  NM_001035518.1  

    Unigene Cluster for CEP250:

    Centrosomal protein 250kDa
    Hs.443976  [show with all ESTs]
    Unigene Representative Sequence: AF049105
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446710(uc021wcn.1) ENST00000420564 ENST00000476146 ENST00000397527(uc021wco.1 uc010zve.2)
    ENST00000461386 ENST00000397524(uc010gfe.1 uc002xco.3) ENST00000425934
    ENST00000465987 ENST00000474829 ENST00000425096 ENST00000487467 ENST00000425525
    ENST00000422671 ENST00000342580(uc010zvd.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CEP250 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate CEP250:
    hsa-miR-653 hsa-miR-182 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidCEP250 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CEP250
    Predesigned siRNA for gene silencing in human, mouse, rat CEP250
    Clone
    Products:
         
    OriGene clones in human, mouse for CEP250 (see all 8)
    OriGene ORF clones in mouse, rat for CEP250
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEP250 (NM_007186)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEP250
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CEP250
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CEP250
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP250
      QuantiTect SYBR Green Assays in human, mouse, rat CEP250
      QuantiFast Probe-based Assays in human, mouse, rat CEP250

    Additional mRNA sequence: 

    AB621828.1 AF022655.1 AF049105.1 AK297572.1 AK307861.1 BC001433.2 BC071869.1 BC144706.1 

    16 DOTS entries:

    DT.453948  DT.95244114  DT.95182221  DT.75100550  DT.95230614  DT.100009448  DT.102832030  DT.120824671 
    DT.120824692  DT.91983505  DT.91651631  DT.95182229  DT.100669023  DT.91744719  DT.91869034  DT.92051999 

    Selected AceView cDNA sequences (see all 140):

    AI076401 BM917985 BM478899 BQ433535 AI022135 BQ690681 BM791892 BE783272 
    AA251364 BC071869 BX101478 BM996444 BG470214 BQ961641 AU143768 CD676969 
    Z40915 NM_007186 BM803305 BQ218659 AI699218 BU632211 BQ187178 BQ187997 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CEP250    About this scheme

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


    ECgene alternative splicing isoforms for CEP250

    (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)
    About This Section

    TryGeneCards Plus

    CEP250 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGCCTCT
    CEP250 Expression
    About this image

    CEP250 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP250 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443976

    UniProtKB/Swiss-Prot: CP250_HUMAN, Q9BV73
    Tissue specificity: Ubiquitously and weakly expressed

        Custom PCR Arrays for CEP250
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CEP250
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP250
    QuantiTect SYBR Green Assays in human, mouse, rat CEP250
    QuantiFast Probe-based Assays in human, mouse, rat CEP250
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP250

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CEP250 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep2501 , 5 centrosomal protein 2501, 5 82.34(n)1
    79.73(a)1
      2 (77.26 cM)5
    163281  NM_001129999.11  NP_001123471.11 
     1559564585 
    chicken
    (Gallus gallus)
    Aves CEP2501 centrosomal protein 250kDa 55.91(n)
    43.4(a)
      419138  XM_417323.4  XP_417323.4 
    lizard
    (Anolis carolinensis)
    Reptilia CEP2506
    centrosomal protein 250kDa
    33(a)
    1 ↔ 1
    4(134133553-134174974)
    zebrafish
    (Danio rerio)
    Actinopterygii CEP2506
    centrosomal protein 250kDa
    16(a)
    1 ↔ 1
    9(13181823-13230056) ENSDARG00000020834
    fruit fly
    (Drosophila melanogaster)
    Insecta Rootletin6
    Rootletin
    17(a)
    1 → many
    3R(19939317-19953915)


    ENSEMBL Gene Tree for CEP250 (if available)
    TreeFam Gene Tree for CEP250 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CEP250 gene
    LOC7287632  CROCC2  
    3 SIMAP similar genes for CEP250 using alignment to 12 protein entries:     CP250_HUMAN (see all proteins):
    IFT81    CROCC    CROCCP2

    CEP250 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CEP250 (see all 1363)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs583756501,2
    C--30847391(+) TAGAT-/AGAT/ 
    AGATAGAT
    TCACT
    1 -- int10--------
    rs1428838481,2
    --34041252(+) GCAAAC/TGCCCT 1 -- us2k10--------
    rs1398843091,2
    C--34041842(+) CCCGGC/TTTAGG 1 -- us2k10--------
    rs1998127331,2
    C--34041882(+) CATTT-/AACCAG 1 -- us2k10--------
    rs2243481,2
    C,F,A,H--34043946(+) CCCGAT/CCTCAG 1 -- int16Minor allele frequency- C:0.42NA WA 12
    rs1882423761,2
    --34044093(+) GAAACA/TGAGGT 1 -- int10--------
    rs1167093231,2
    F--34044240(+) TTGGCC/TCTGGG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs797353341,2
    C,F--34044289(+) CGAAGG/TCTTAG 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1814086011,2
    --34044353(+) GTACGA/CCCTCT 1 -- int10--------
    rs1864165751,2
    --34044376(+) CTTCTA/GTCTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CEP250 (34042985 - 34099804 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CEP250:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3364CNV Insertion18451855
    nsv833963CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP250
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP250

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 609689    OMIM disorders: --

    3 diseases for CEP250:    
    About MalaCards
    inflammatory bowel disease    ovarian cancer    breast cancer


    CEP250 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CEP250
    Human Genome Epidemiology (HuGE) Navigator: CEP250 (3 documents)

    Export disorders for CEP250 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for CEP250 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with CEP250)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. (PubMed id 9647649)1, 2, 3, 9 Fry A.M.... Nigg E.A. (J. Cell Biol. 1998)
    2. Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome. (PubMed id 9506584)1, 2, 3, 9 Mack G.J....Rattner J.B. (Arthritis Rheum. 1998)
    3. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    5. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    7. A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization. (PubMed id 18851962)1, 2 Kim K.... Rhee K. (Exp. Cell Res. 2008)
    8. The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles. (PubMed id 12140259)1, 2 Mayor T.... Nigg E.A. (J. Cell Sci. 2002)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    10. NIMA-related kinase 2 (Nek2), a cell-cycle-regulated protein kinase localized to centrosomes, is complexed to protein phosphatase 1. (PubMed id 10880350)1, 2 Helps N.R.... Cohen P.T.W. (Biochem. J. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 11190 HGNC: 1859 AceView: CEP2 Ensembl:ENSG00000126001 euGenes: HUgn11190
    ECgene: CEP250 H-InvDB: CEP250

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CEP250 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CEP250 gene:
    Search GeneIP for patents involving CEP250

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CEP250  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CEP250  
     OriGene qSTAR qPCR primer pairs in human, mouse for CEP250   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CEP250   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CEP250   OriGene Custom Protein Services for CEP250  

     
     
     Block miRNA regulation of human, mouse, rat CEP250 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CEP250
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP250 Predesigned siRNA for gene silencing in human, mouse, rat CEP250
     QuantiFast Probe-based Assays in human, mouse, rat CEP250 QuantiTect SYBR Green Assays in human, mouse, rat CEP250
     Custom PCR Arrays for CEP250 Search Chromatin IP Primers for CEP250
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CEP250  GeneGlobe Interaction Network for CEP250
     Regulatory tfbs in CEP250 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CEP250 GenScript cDNA clones with any tag delivered in your preferred vector for CEP250
     GenScript Custom Assay Services for CEP250 GenScript Custom overexpressing Cell Line Services for CEP250
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CEP250 (CP250)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CEP250 antibodies
     CEP250 proteins
     Antibodies for CEP250
     See all of Abcam's Antibodies, Kits and Proteins for CEP250
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CEP250
     Antibodies for CEP250
     ELISAs for CEP250
     CLIAs for CEP250



     Browse ESI BIO Cell Lines and PureStem Progenitors for CEP250
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP250
     SwitchGear 3'UTR luciferase reporter plasmids for CEP250
     SwitchGear Promoter luciferase reporter plasmids for CEP250
     Search ThermoFisher Antibodies for CEP250
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CEP250
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CEP250
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CEP250
     Search LSBio for Antibodies for CEP250
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CEP250 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4