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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CENPJ Gene

protein-coding   GIFtS: 59
GCID: GC13M025456

centromere protein J

(Previous names: microcephaly, primary autosomal recessive 6 )
(Previous symbol: MCPH6)
 Explore 9 diseases affiliated with
CENPJ via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CENPJ    

Aliases
for CENPJ gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Centromere Protein J1 2     Sas-41 2
CPAP1 2 3 5     Centrosomal P4.1-Associated Protein2 3
LAP1 2 3     CENP-J2 3
LIP11 2 3     LAG-3-Associated Protein2 3
MCPH61 2 5     LYST-Interacting Protein 12 3
SCKL41 2 5     Microcephaly, Primary Autosomal Recessive 61
BM0321 2     LYST-Interacting Protein LIP12
SASS41 2     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


Summaries
for CENPJ gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences 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 plasmid: CENPJ promoter sequence
   Search SABiosciences Chromatin IP Primers for CENPJ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CENPJ gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, 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
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HC77

    • CENPJ Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060921.3  
    ENSEMBL proteins: 
     ENSP00000371308   ENSP00000399334   ENSP00000441090  
    Reactome Protein details: Q9HC77
    Human Recombinant Protein Products: 
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    Novus Biologicals CENPJ Proteins
    Novus Biologicals CENPJ Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CENPJ

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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


    CENPJ for ontologies           About GeneDecksing



    CENPJ Antibody Products: 
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    Uscn ELISAs and CLIAs for CENPJ

    Protein Domains /
    Families
    for CENPJ gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CENPJ for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for CENPJ gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CENPJ 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for CENPJ

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16713569
    GO:0015631tubulin binding IDA15047868
    GO:0019901protein kinase binding IPI--
    GO:0019904protein domain specific binding IPI11984006


    CENPJ for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Cenpjtm1.1Tkt for CENPJ
         13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cenpj):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     reproductive system  skeleton  vision/eye 

    CENPJ for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CENPJ gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    		Centrosome maturation1.00
    		Mitotic G2-G2/M phases0.81
    		Recruitment of mitotic centrosome proteins and complexes1.00
    		Loss of proteins required for interphase microtubule organization from the centrosome0.78
    		G2/M Transition0.83
    		Loss of Nlp from mitotic centrosomes0.78
    2Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for CENPJ (see all 8)
        Centrosome maturation
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    G2/M Transition
    Loss of proteins required for interphase microtubule organization from the centrosome



    CENPJ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CENPJ

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

    5/82 Interacting proteins for CENPJ (Q9HC771, 2, 3 ENSP000003713084) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STILQ154682MINT-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
    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
    CCP110O433032, 3MINT-7994591 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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--


    CENPJ for ontologies           About GeneDecksing



    Drugs & Compounds
    for CENPJ gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CENPJ
    Search CenterWatch for drugs/clinical trials and news about CENPJ 

    Transcripts
    for CENPJ gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CENPJ gene: 
    NM_018451.4  

    Unigene Cluster for CENPJ:

    Centromere protein J
    Hs.741581  [show with all ESTs]
    Unigene Representative Sequence: NR_047594
    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 plasmid: CENPJ 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CENPJ (see all 7)
    OriGene shRNA RFP: CENPJ
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CENPJ (NM_018451)
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    Primer
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    Additional cDNA sequence: 

    AF139625.1 AF141337.1 AF141343.1 AF217509.1 AJ303006.1 AK123551.1 AK292406.1 BC024209.2 
    BC092467.1 BC113110.1 BC113112.1 BC113113.1 BC113662.1 BC113664.1 BC143757.1 BC143758.1 
    NR_047594.1 NR_047595.1 

    8 DOTS entries:

    DT.309849  DT.100019163  DT.86853901  DT.91791377  DT.40301517  DT.92424568  DT.120779584  DT.99998384 

    24/74 AceView cDNA sequences (see all 74):

    BI061698 AA332916 AW614896 AL833182 BP353966 AJ303006 CN482691 AX751424 
    BM474978 AA644279 BX090146 BI062621 AI221875 CB127446 BE884264 CD643097 
    BE745823 BG259304 BQ894278 AA968554 CB270667 AA452123 T78536 AI288949 

    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

    Expression
    for CENPJ gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CENPJ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGTAACAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CENPJ expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CENPJ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CENPJ

    SOURCE GeneReport for Unigene cluster: Hs.741581
        SABiosciences Custom PCR Arrays for CENPJ
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    In Situ
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    Orthologs
    for CENPJ gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for CENPJ gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Cenpj1 , 5 centromere protein J1, 5 79.92(n)1
    74.68(a)1    		   14 (28.28 cM)5
    2191031  NM_001014996.21  NP_001014996.21 
     565267615 
    chicken
    (Gallus gallus)    		 Aves CENPJ1 centromere protein J 62.03(n)
    52.96(a)    		   418960  XM_417152.3  XP_417152.3 
    lizard
    (Anolis carolinensis)    		 Reptilia CENPJ6
    		 --
    		 46(a)
    		 1 ↔ 1
    		 3(186906008-186918835)
    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
    for CENPJ gene

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

    CENPJ for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CENPJ
    PGOHUM00000248536


    Genomic Variants
    for CENPJ gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/928 NCBI SNPs in CENPJ are shown (see all 928)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs413005921,2
    		C,non-pathogenic25459805(+) GTGGAT/CTGCCT 4 /N /S mis11Minor allele frequency- C:0.00NA 4490
    rs413060291,2
    		Cnon-pathogenic25479498(+) GGTCTG/TGACTT 4 Q P nc-transcript-variantmis10--------
    rs341778111,2
    		C,F,non-pathogenic25486200(+) GTACTT/CCTTTC 4 /E /G nc-transcript-variantmis14Minor allele frequency- C:0.00NA 4610
    rs413060271,2
    		Cnon-pathogenic25486875(+) GGCTGT/CATGGG 4 /T /A mis11Minor allele frequency- C:0.00NA 4550
    rs73362161,2
    		C,F,A,H,non-pathogenic25486977(+) GCTATC/GAGAAA 4 H D nc-transcript-variantmis112Minor allele frequency- G:0.03NA NS EA WA 5286
    rs170813891,2
    		C,F,H,non-pathogenic25487001(+) AATAGG/CAAAGC 4 /P /A mis1 ese318Minor allele frequency- C:0.03NA NS EA WA CSA EU 6913
    rs354989941,2
    		C,F,non-pathogenic25487103(+) GGTCAA/C/TCCACT 7 M V L nc-transcript-variantmis112NA NS EA WA EU 6714
    rs1214343111,2
    		Cpathogenic25458221(-) AACAGA/TAAAAC 4 E V nc-transcript-variantmis10--------
    rs355995631,2
    		C--6280399(+) CTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1163153061,2
    		F,--25455953(+) ATCTAT/ACTATA 3 -- ds50011Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for CENPJ (25456412 - 25497085 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CENPJ: --
    Human Gene Mutation Database (HGMD): CENPJ

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CENPJ
    DNA2.0 Custom Variant and Variant Library Synthesis for CENPJ

    Disorders / Diseases
    for CENPJ gene

    (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.)
    About This Section
    CENPJ for disorders           About GeneDecksing

    OMIM gene information: 609279   
    OMIM disorders: 608393  613676  
    UniProtKB/Swiss-Prot: CENPJ_HUMAN, Q9HC77
  • Defects in CENPJ are the cause of microcephaly primary type 6 (MCPH6) [MIM:608393]. A disorder 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. Primary microcephaly is further defined
    by the absence of other syndromic features or significant neurological deficits
  • Defects in CENPJ are the cause of Seckel syndrome type 4 (SCKL4) [MIM:613676]. SCKL4 is 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

    9 diseases for CENPJ:    About MalaCards
    primary autosomal recessive microcephaly    microcephaly    seckel syndrome 4    seckel syndrome
    dwarfism    gigantism    rheumatoid arthritis    arthritis
    ataxia

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

    2 Novoseek 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
    Primary Autosomal Recessive Microcephaly

    Human Genome Epidemiology (HuGE) Navigator: CENPJ (2 documents)

    Export disorders for CENPJ gene to outside databases

    Publications
    for CENPJ gene

    (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

    PubMed articles for CENPJ gene, integrated from 9 sources (see all 48):
    (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. (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. (2004)
    3. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PubMed id 15793586)1, 2, 9 Bond J.... Woods C.G. (2005)
    4. Plk4-induced centriole biogenesis in human cells. (PubMed id 17681131)1, 2, 9 Kleylein-Sohn J.... Nigg E.A. (2007)
    5. Tankyrase 1 regulates centrosome function by controlli ng CPAP stability. (PubMed id 22699936)1, 3 Kim M.K....Smith S. (2012)
    6. Novel CENPJ mutation causes Seckel syndrome. (PubMed id 20522431)1, 2 Al-Dosari M.S....Alkuraya F.S. (2010)
    7. PLK2 phosphorylation is critical for CPAP function in procentriole formation during the centrosome cycle. (PubMed id 20531387)1, 2 Chang J....Rhee K. (2010)
    8. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    9. 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. (2004)
    10. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PubMed id 11984006)1, 2 Tchernev V.T....Kingsmore S.F. (2002)

    External Searches for CENPJ gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing CENPJ gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55835 HGNC: 17272 AceView: CENPJ Ensembl:ENSG00000151849 euGenes: HUgn55835
    ECgene: CENPJ H-InvDB: CENPJ

    Other Databases showing CENPJ gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CENPJ gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CENPJ Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CENPJ Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CENPJ gene

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