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CENPJ Gene

protein-coding   GIFtS: 59
GCID: GC13M025456

Centromere Protein J

(Previous names: microcephaly, primary autosomal recessive 6)
(Previous symbol: MCPH6)
  See CENPJ-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
Centromere Protein J1 2     LYST-Interacting Protein 12 3
Centrosomal P4.1-Associated Protein1 2 3     SCKL42 5
MCPH61 2 5     Microcephaly, Primary Autosomal Recessive 61
CPAP2 3 5     BM0322
CENP-J2 3     SASS42
LAP2 3     Sas-42
LIP12 3     LYST-Interacting Protein LIP12
LAG-3-Associated Protein2 3     LYST-Interacting Protein LIP72

External Ids:    HGNC: 172721   Entrez Gene: 558352   Ensembl: ENSG000001518497   OMIM: 6092795   UniProtKB: Q9HC773   

Export aliases for CENPJ gene to outside databases

Previous GC identifers: GC13M023437 GC13M019437 GC13M024387 GC13M023255 GC13M024355 GC13M006269


(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 CENPJ Gene:
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein
plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is
involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator
in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its
interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary
autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for CENPJ Gene:
CENPJ (centromere protein J) is a protein-coding gene. Diseases associated with CENPJ include primary autosomal recessive microcephaly type 6, and primary autosomal recessive microcephalies and seckel syndrome spectrum disorders. GO annotations related to this gene include protein kinase binding and tubulin binding.

UniProtKB/Swiss-Prot: CENPJ_HUMAN, Q9HC77
Function: Plays an important role in cell division and centrosome function by participating in centriole
duplication. Inhibits microtubule nucleation from the centrosome

Gene Wiki entry for CENPJ 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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Regulatory elements:
   Regulatory transcription factor binding sites in the CENPJ gene promoter:
         GATA-3   AML1a   FOXJ2 (long isoform)   p300   STAT3   FOXJ2   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCENPJ promoter sequence
   Search Chromatin IP Primers for CENPJ

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


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

Entrez Gene cytogenetic band: 13q12.12   Ensembl cytogenetic band:  13q12.12   HGNC cytogenetic band: 13q12.12

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

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M025456:  view genomic region     (about GC identifiers)

Start:
25,456,412 bp from pter      End:
25,497,085 bp from pter
Size:
40,674 bases      Orientation:
minus 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, 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: CENPJ_HUMAN, Q9HC77 (See protein sequence)
Recommended Name: Centromere protein J  
Size: 1338 amino acids; 153000 Da
Subunit: Part of a ternary complex composed of SASS6, CENPJ and CEP350. Associated with the gamma-tubulin complex.
Interacts with the head domain of EPB41. Interacts with LYST. Interacts with CEP152 (via C-terminus)
Sequence caution: Sequence=AAH24209.3; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q2KHM6 Q5T6R5 Q96KS5 Q9C067

Explore the universe of human proteins at neXtProt for CENPJ: NX_Q9HC77

Explore proteomics data for CENPJ at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation.
    Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during
    the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4
    function in procentriole assembly1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CENPJ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060921.3  
    ENSEMBL proteins: 
     ENSP00000371308   ENSP00000399334   ENSP00000441090  
    Reactome Protein details: Q9HC77

    CENPJ Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CENPJ

     
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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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    2 InterPro protein domains:
     IPR009852 Tcp10_C_dom
     IPR026581 TCP10_fam

    Graphical View of Domain Structure for InterPro Entry Q9HC77

    ProtoNet protein and cluster: Q9HC77

    UniProtKB/Swiss-Prot: CENPJ_HUMAN, Q9HC77
    Similarity: Belongs to the TCP10 family


    Find genes that share domains with CENPJ           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: CENPJ_HUMAN, Q9HC77
    Function: Plays an important role in cell division and centrosome function by participating in centriole
    duplication. Inhibits microtubule nucleation from the centrosome

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11003675
    GO:0015631tubulin binding IDA15047868
    GO:0019901protein kinase binding IPI--
    GO:0019904protein domain specific binding IPI11984006
         
    Find genes that share ontologies with CENPJ           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CENPJ:
     G0/1 arrest  Increased G1 DNA content 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cenpj) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  reproductive system 

    Find genes that share phenotypes with CENPJ           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cenpjtm1.1Tkt for CENPJ

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CENPJ
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CENPJ

    miRNA
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    miRTarBase miRNAs that target CENPJ:
    hsa-mir-193b-3p (MIRT016265), hsa-mir-15a-5p (MIRT000829), hsa-mir-16-5p (MIRT000828)

    Block miRNA regulation of human, mouse, rat CENPJ using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate CENPJ:
    hsa-miR-433 hsa-miR-607 hsa-miR-493* hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCENPJ 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CENPJ

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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for CENPJ 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CENPJ


    (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
    CENPJ_HUMAN, Q9HC77: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton,
    microtubule organizing center, centrosome, centriole. Note=Localized within the center of microtubule asters.
    During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and
    procentrioles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA17681131
    GO:0005829cytosol TAS--
    GO:0005874microtubule IEA--
    GO:0008275gamma-tubulin small complex NAS11003675

    Find genes that share ontologies with CENPJ           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 CENPJ 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


    Find genes that share SuperPaths with CENPJ           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CENPJ
        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


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

        GeneGlobe Interaction Network for CENPJ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CENPJ (Q9HC771, 2, 3 ENSP000003713084) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STILQ154681, 2EBI-946194,EBI-7488405 MINT-8389200 MINT-8389100 MINT-8389119 MINT-8388987 MINT-8389061 MINT-8389076 MINT-8389227 MINT-8389213 MINT-8389143 MINT-8389045 MINT-8389027 MINT-8389177 MINT-8389160
    TNKSO952711, 2EBI-946194,EBI-1105254 MINT-8398637 MINT-8398667 MINT-8398617 MINT-8398586
    YWHAGP619812, 3, ENSP000003063304MINT-8007377 I2D: score=5 STRING: ENSP00000306330
    CICQ96RK01, 3, ENSP000001607404EBI-946194,EBI-945857 I2D: score=2 STRING: ENSP00000160740
    GFI1BQ5VTD91, 3, ENSP000003447824EBI-946194,EBI-946212 I2D: score=2 STRING: ENSP00000344782
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007020microtubule nucleation TAS11003675
    GO:0007099centriole replication IMP17681131
    GO:0046599regulation of centriole replication IMP--

    Find genes that share ontologies with CENPJ           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CENPJ



    (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 CENPJ gene: 
    NM_018451.4  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381884(uc001upt.4 uc010tdf.2 uc010aaf.3) ENST00000471870
    ENST00000493190 ENST00000418179(uc001upu.3) ENST00000545981
    miRNA
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    hsa-miR-433 hsa-miR-607 hsa-miR-493* hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidCENPJ 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CENPJ
      QuantiFast Probe-based Assays in human, mouse, rat CENPJ

    Selected AceView cDNA sequences (see all 74):

    BX090146 BI062621 AW614896 AA644279 AL833182 AJ303006 BI061698 BP353966 
    AA332916 CN482691 AX751424 BM474978 BU617749 CB127446 BU150232 BG259304 
    BQ894278 AI065058 AI288949 BC024209 AA447226 BG941999 CB270667 AF139625 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for CENPJ

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


    CENPJ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
    CENPJ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CENPJ Protein Expression
        Custom PCR Arrays for CENPJ
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CENPJ

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

    Orthologs for CENPJ gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cenpj1 , 5 centromere protein J1, 5 79.84(n)1
    74.75(a)1
      14 (28.28 cM)5
    2191031  NM_001014996.21  NP_001014996.21 
     565267615 
    chicken
    (Gallus gallus)
    Aves CENPJ1 centromere protein J 61.99(n)
    53.05(a)
      418960  XM_417152.4  XP_417152.4 
    lizard
    (Anolis carolinensis)
    Reptilia CENPJ6
    centromere protein J
    41(a)
    1 ↔ 1
    3(186905816-186933205)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.139272 Xenopus laevis transcribed sequence with weak similarity more 71.43(n)    BJ077635.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi46g112 Transcribed sequence with weak similarity to protein more 73.53(n)    57067435 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100613   -- 45(a)   84C7   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CENPJ gene
    1 SIMAP similar gene for CENPJ using alignment to 4 protein entries:     CENPJ_HUMAN (see all proteins):
    DKFZp667E025

    Find genes that share paralogs with CENPJ           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CENPJ
    PGOHUM00000248536


    (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 CENPJ (see all 1154)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0324334
    Microcephaly 6, primary, autosomal recessive (MCPH6)4--see VAR_0324332 E V mis40--------
    rs413005921,2
    Cnon-pathogenic125459805(+) GTGGAT/CTGCCT 4 /N /S nc-transcript-variantmis11Minor allele frequency- C:0.00NA 4490
    rs413060291,2
    Cnon-pathogenic125479498(+) GGTCTG/TGACTT 4 Q P nc-transcript-variantmis10--------
    rs174028921,2,,4
    C,F,Hnon-pathogenic125479541(+) ATCTGA/CCTTTG 4 A S nc-transcript-variantmis134Minor allele frequency- C:0.09NA NS EA EU 8946
    rs341778111,2,,4
    C,Fnon-pathogenic125486200(+) GTACTT/CCTTTC 4 /E /G nc-transcript-variantmis14Minor allele frequency- C:0.00NA 4610
    rs413060271,2
    Cnon-pathogenic125486875(+) GGCTGT/CATGGG 4 /T /A nc-transcript-variantmis11Minor allele frequency- C:0.00NA 4550
    rs73362161,2,,4
    C,F,A,Hnon-pathogenic125486977(+) GCTATC/GAGAAA 4 H D nc-transcript-variantmis112Minor allele frequency- G:0.03NA NS EA WA 5286
    rs170813891,2,,4
    C,F,Hnon-pathogenic125487001(+) AATAGG/CAAAGC 4 /P /A nc-transcript-variantmis1 ese318Minor allele frequency- C:0.03NA NS EA WA CSA EU 6913
    rs354989941,2,,4
    C,Fnon-pathogenic125487103(+) GGTCAA/C/TCCACT 4 M V nc-transcript-variantmis112NA NS EA WA EU 6714
    rs1214343111,2
    Cpathogenic125458221(-) AACAGA/TAAAAC 4 E V nc-transcript-variantmis10--------

    HapMap Linkage Disequilibrium report for CENPJ (25456412 - 25497085 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CENPJ:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747155CNV Deletion23290073
    nsv899941CNV Gain21882294

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

    (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: 609279   
    OMIM disorders: 608393  613676  
    UniProtKB/Swiss-Prot: CENPJ_HUMAN, Q9HC77
  • Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Seckel syndrome 4 (SCKL4) [MIM:613676]: A rare autosomal recessive disorder characterized by
    proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe
    microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 9 diseases for CENPJ:    
    About MalaCards
    primary autosomal recessive microcephaly type 6    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders    seckel syndrome type 4    microcephaly, primary autosomal recessive
    microcephaly    seckel syndrome    seckel syndrome type 8    orotic aciduria
    primary autosomal recessive microcephaly type 1

    2 diseases from the University of Copenhagen DISEASES database for CENPJ:
    Microcephaly     Seckel syndrome

    Find genes that share disorders with CENPJ           About GenesLikeMe

    2 Novoseek inferred disease relationships for CENPJ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly, primary 94.6 3 16829198 (1), 16900296 (1)
    microcephaly 57.3 3 16829198 (1), 16814722 (1)

    GeneTests: CENPJ
    GeneReviews: CENPJ
    Genetic Association Database (GAD): CENPJ
    Human Genome Epidemiology (HuGE) Navigator: CENPJ (2 documents)

    Export disorders for CENPJ 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 CENPJ gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with CENPJ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex. (PubMed id 11003675)1, 2, 3, 9 Hung L.-Y.... Tang T.K. (Mol. Cell. Biol. 2000)
    2. Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly. (PubMed id 15047868)1, 2, 9 Hung L.-Y.... Tang T.K. (Mol. Biol. Cell 2004)
    3. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PubMed id 15793586)1, 2, 9 Bond J.... Woods C.G. (Nat. Genet. 2005)
    4. Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2, 9 Kleylein-Sohn J.... Nigg E.A. (Dev. Cell 2007)
    5. Tankyrase 1 regulates centrosome function by controlling CPAP stability. (PubMed id 22699936)1, 3 Kim M.K....Smith S. (EMBO Rep. 2012)
    6. Novel CENPJ mutation causes Seckel syndrome. (PubMed id 20522431)1, 2 Al-Dosari M.S.... Alkuraya F.S. (J. Med. Genet. 2010)
    7. Sex-dependent association of common variants of microcephaly genes with brain structure. (PubMed id 20080800)1, 4 Rimol L.M....Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    8. PLK2 phosphorylation is critical for CPAP function in procentriole formation during the centrosome cycle. (PubMed id 20531387)1, 2 Chang J.... Rhee K. (EMBO J. 2010)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    10. 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)

    (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: 55835 HGNC: 17272 AceView: CENPJ Ensembl:ENSG00000151849 euGenes: HUgn55835
    ECgene: CENPJ H-InvDB: CENPJ

    (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 CENPJ Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CENPJ 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 CENPJ gene:
    Search GeneIP for patents involving CENPJ

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



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