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CEP152 Gene

protein-coding   GIFtS: 58
GCID: GC15M049005

Centrosomal Protein 152kDa

(Previous names: microcephaly, primary autosomal recessive 4)
(Previous symbol: MCPH4)
  See CEP152-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
Centrosomal Protein 152kDa1 2     SCKL52 5
MCPH41 2     KIAA09123 5
Microcephaly, Primary Autosomal Recessive 41 2     Centrosomal Protein Of 152 KDa2
asterless1 2     Cep1523
MCPH92 5     

External Ids:    HGNC: 292981   Entrez Gene: 229952   Ensembl: ENSG000001039957   OMIM: 6135295   UniProtKB: O949863   

Export aliases for CEP152 gene to outside databases

Previous GC identifers: GC15M046818 GC15M049030 GC15M025862


(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 CEP152 Gene:
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have
been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Aug 2010)

GeneCards Summary for CEP152 Gene:
CEP152 (centrosomal protein 152kDa) is a protein-coding gene. Diseases associated with CEP152 include seckel syndrome type 5, and primary autosomal recessive microcephaly type 9. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot: CE152_HUMAN, O94986
Function: Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4
and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole
amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive
amplification of centrioles

Gene Wiki entry for CEP152 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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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CEP152 gene promoter:
         NF-YA   NF-YC   HNF-4alpha2   CBF-C   HNF-4alpha1   NF-YB   CBF-B   CP1C   CP1A   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP152 promoter sequence
   Search Chromatin IP Primers for CEP152

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CEP152


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

CEP152 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP152 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M049005:  view genomic region     (about GC identifiers)

Start:
49,005,125 bp from pter      End:
49,103,343 bp from pter
Size:
98,219 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CE152_HUMAN, O94986 (See protein sequence)
Recommended Name: Centrosomal protein of 152 kDa  
Size: 1710 amino acids; 195626 Da
Subunit: Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts
with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes
Sequence caution: Sequence=AAH69186.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA74935.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: E7ER66 Q17RV1 Q6NTA0
Alternative splicing: 4 isoforms:  O94986-4   O94986-1   O94986-2   O94986-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CEP152: NX_O94986

Explore proteomics data for CEP152 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys788, Lys848, Lys905, Lys996, Lys1263
  • Modification sites at PhosphoSitePlus

  • See CEP152 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001181927.1  NP_055800.2  

    ENSEMBL proteins: 
     ENSP00000453591   ENSP00000370337   ENSP00000382271   ENSP00000321000   ENSP00000453440  
     ENSP00000453914  
    Reactome Protein details: O94986

    CEP152 Human Recombinant Protein Products:

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    antibodies-online antibodies for CEP152 (23 products) 

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    antibodies-online kits for CEP152 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: O94986

    UniProtKB/Swiss-Prot: CE152_HUMAN, O94986
    Similarity: Belongs to the CEP152 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: CE152_HUMAN, O94986
    Function: Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4
    and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole
    amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive
    amplification of centrioles

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019901protein kinase binding IPI--
         
    Find genes that share ontologies with CEP152           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CEP152:
     Decreased Wnt reporter activit 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cep152):
     no phenotypic analysis 

    Find genes that share phenotypes with CEP152           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CEP152

    miRNA
    Products:
        
    miRTarBase miRNAs that target CEP152:
    hsa-mir-454-5p (MIRT039254), hsa-mir-877-3p (MIRT036813), hsa-mir-197-3p (MIRT048076), hsa-mir-18a-3p (MIRT040946), hsa-mir-615-3p (MIRT039610), hsa-mir-21-5p (MIRT031041), hsa-mir-92b-3p (MIRT040600), hsa-mir-30b-5p (MIRT046124), hsa-mir-1229-3p (MIRT036267), hsa-mir-30c-5p (MIRT047867)

    Block miRNA regulation of human, mouse, rat CEP152 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CEP152:
    hsa-miR-141 hsa-miR-3163 hsa-miR-196a* hsa-miR-200a hsa-miR-3121-3p hsa-miR-616* hsa-miR-548c-3p hsa-miR-373*
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    (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
    CE152_HUMAN, O94986: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with
    CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is
    predicted to engage parental centrioles and procentrioles. Localizes to the deuterosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ----
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with CEP152           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 CEP152 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 CEP152           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CEP152
        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 CEP152
    Interactions:

        Search GeneGlobe Interaction Network for CEP152

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

    Selected Interacting proteins for CEP152 (O949862, 3 ENSP000003822714) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRF5Q135683, ENSP000003497704I2D: score=1 STRING: ENSP00000349770
    EPB41L3Q9Y2J23, ENSP000003411384I2D: score=3 STRING: ENSP00000341138
    AKAP9ENSP000003485734STRING: ENSP00000348573
    ALMS1ENSP000002644484STRING: ENSP00000264448
    CDK5RAP2ENSP000003438184STRING: ENSP00000343818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007099centriole replication ISS--
    GO:0030030cell projection organization IEA--
    GO:0051298centrosome duplication IMP--

    Find genes that share ontologies with CEP152           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 CEP152 (CE152)



    (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 CEP152 gene (2 alternative transcripts): 
    NM_001194998.1  NM_014985.3  

    Unigene Clusters for CEP152:

    Centrosomal protein 152kDa
    Hs.443005  [show with all ESTs], Hs.597323  [show with all ESTs]
    Unigene Representative Sequences: BC029603, NM_001194998
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561245 ENST00000380950(uc001zwz.3 uc001zwy.3) ENST00000399334
    ENST00000325747(uc001zxa.2) ENST00000559398 ENST00000560322 ENST00000558337
    ENST00000559444 ENST00000558591 ENST00000559630
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate CEP152:
    hsa-miR-141 hsa-miR-3163 hsa-miR-196a* hsa-miR-200a hsa-miR-3121-3p hsa-miR-616* hsa-miR-548c-3p hsa-miR-373*
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      QuantiTect SYBR Green Assays in human, mouse, rat CEP152
      QuantiFast Probe-based Assays in human, mouse, rat CEP152

    Additional mRNA sequence: 

    AB020719.1 AK025247.1 AK303805.1 BC069186.1 BC107721.1 BC117182.1 BX648822.1 

    11 DOTS entries:

    DT.205906  DT.75182146  DT.40310610  DT.205905  DT.97803856  DT.101981156  DT.121033891  DT.100009923 
    DT.100746254  DT.92063175  DT.99955488 

    Selected AceView cDNA sequences (see all 50):

    AW241971 AB020719 BX500989 BF984778 BQ028309 AI798388 BU733934 AI250831 
    BX648822 AA337377 CA430524 CA429005 CA413310 AI183572 BC069186 BG391093 
    BU629989 AI916980 AA337144 BG614741 BX095521 AA778875 AI130715 AV713877 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CEP152 (see all 9)    About this scheme

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

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for CEP152

    (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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    CEP152 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGCCACA
    CEP152 Expression
    About this image


    CEP152 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    CEP152 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CEP152 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.443005 Hs.597323
        Custom PCR Arrays for CEP152
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP152

    (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 chordates.

    Orthologs for CEP152 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep1521 , 5 centrosomal protein 1521, 5 75.3(n)1
    67.09(a)1
      2 (61.76 cM)5
    991001  NM_001081091.11  NP_001074560.11 
     1255630885 
    chicken
    (Gallus gallus)
    Aves CEP1521 centrosomal protein 152kDa 60.67(n)
    50.29(a)
      415437  XM_004943803.1  XP_004943860.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEP1526
    centrosomal protein 152kDa
    50(a)
    1 ↔ 1
    GL343506.1(375434-404598)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480119802   -- 72.79(n)    48011980 
    zebrafish
    (Danio rerio)
    Actinopterygii cep1521 centrosomal protein 152kDa 50.48(n)
    39.97(a)
      565873  XM_689135.4  XP_694227.4 


    ENSEMBL Gene Tree for CEP152 (if available)
    TreeFam Gene Tree for CEP152 (if available)

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

    (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 CEP152 (see all 1422)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008794361,2,,4
    CSeckel syndrome 5 (SCKL5)4 --29126570(+) CTTGTC/TTGTCA 4 K R mis10--------
    VAR_0638134
    Microcephaly 9, primary, autosomal recessive (MCPH9)4--see VAR_0638132 Q P mis40--------
    rs2676067171,2
    Cpathogenic129151689(-) ACGTCA/CAATTC 4 Q P mis10--------
    rs112925461,2
    C,F--25900128(+) ACAGTA/-AAAAA 2 -- int1 trp33Minor allele frequency- -:0.50NA CSA 6
    rs2016819531,2
    --25920530(+) CACAC-/ATATATA 2 -- int10--------
    rs347773871,2
    C--25931765(+) TCTCA-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs1917638561,2
    --29095784(+) ACCTAA/GAGCAT 2 -- ds50010--------
    rs785682411,2
    C,F--29095885(+) AAGGTC/TGTATT 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1823571861,2
    --29095886(+) AGGTCA/GTATTT 2 -- ds50010--------
    rs1872131251,2
    --29096325(+) AATTTA/GTAAGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CEP152 (49005125 - 49103343 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CEP152:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833001CNV Gain17160897

    Human Gene Mutation Database (HGMD): CEP152
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CEP152
    DNA2.0 Custom Variant and Variant Library Synthesis for CEP152

    (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.)
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    OMIM gene information: 613529   
    OMIM disorders: 614852  613823  
    UniProtKB/Swiss-Prot: CE152_HUMAN, O94986
  • Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]: 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 5 (SCKL5) [MIM:613823]: 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

  • 8 diseases for CEP152:    
    About MalaCards
    seckel syndrome type 5    primary autosomal recessive microcephaly type 9    microcephaly, primary autosomal recessive    seckel syndrome type 8
    seckel syndrome    microcephaly    primary autosomal recessive microcephaly type 1    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    2 diseases from the University of Copenhagen DISEASES database for CEP152:
    Seckel syndrome     Microcephaly

    Find genes that share disorders with CEP152           About GenesLikeMe

    Genetic Association Database (GAD): CEP152
    Human Genome Epidemiology (HuGE) Navigator: CEP152 (1 document)

    Export disorders for CEP152 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 CEP152 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with CEP152)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. (PubMed id 21131973)1, 2, 3 Kalay E.... Wollnik B. (Nat. Genet. 2011)
    2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (Carcinogenesis 2012)
    3. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. (PubMed id 20598275)1, 2 Guernsey D.L.... Samuels M.E. (Am. J. Hum. Genet. 2010)
    4. A Japanese-specific allele in the GALNT11 gene. (PubMed id 20547088)1, 2 Yuasa I....Henke J. (Leg Med (Tokyo) 2010)
    5. Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome. (PubMed id 21059844)1, 2 Cizmecioglu O.... Hoffmann I. (J. Cell Biol. 2010)
    6. Asterless is a scaffold for the onset of centriole assembly. (PubMed id 20852615)1, 2 Dzhindzhev N.S.... Glover D.M. (Nature 2010)
    7. 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)
    8. Proteomic characterization of the human centrosome by protein correlation profiling. (PubMed id 14654843)1, 3 Andersen J.S....Mann M. (Nature 2003)
    9. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    10. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (J. Proteome Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 22995 HGNC: 29298 AceView: Cep152 Ensembl:ENSG00000103995 euGenes: HUgn22995
    ECgene: CEP152 H-InvDB: CEP152

    (According to HUGE)
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    HUGE: KIAA0912

    (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 CEP152 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CEP152 gene:
    Search GeneIP for patents involving CEP152

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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