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PCNT Gene

protein-coding   GIFtS: 65
GCID: GC21P047744

Pericentrin

(Previous name: pericentrin 2 (kendrin))
(Previous symbol: PCNT2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
pericentrin1 2     PCN2
PCNT21 2 3 5     PCNTB2
kendrin1 2     PCTN22
KEN2 5     pericentrin-22
MOPD22 5     pericentrin-3802
SCKL42 5     pericentrin-B2
Pericentrin 2 (Kendrin)1     KIAA04023
Seckel Syndrome 41     Kendrin3
Pericentrin, Kendrin (KIAA0402)11     Pericentrin-B3

External Ids:    HGNC: 160681   Entrez Gene: 51162   Ensembl: ENSG000001602997   OMIM: 6059255   UniProtKB: O956133   

Export aliases for PCNT gene to outside databases

Previous GC identifers: GC21P046569 GC21P033126


(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 PCNT Gene:
The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral
component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly
conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the
microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes,
cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic
osteodysplastic primordial dwarfism type II. (provided by RefSeq, Jul 2008)

GeneCards Summary for PCNT Gene:
PCNT (pericentrin) is a protein-coding gene. Diseases associated with PCNT include dwarfism, and microcephalic osteodysplastic primordial dwarfism type 2. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is AKAP9.

UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613
Function: Integral component of the filamentous matrix of the centrosome involved in the initial establishment of
organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule
network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in
preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome

Gene Wiki entry for PCNT 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCNT gene promoter:
         HOXA9B   HOXA9   STAT5B   Nkx2-5   POU6F1 (c2)   Roaz   AREB6   Meis-1a   Meis-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PCNT promoter sequence

   Search Chromatin IP Primers for PCNT

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


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
PCNT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCNT gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P047744:   GeneLoc Nature:405,311-319
Start:
47,744,036 bp from pter       33,250,559 bp from centromere
End:
47,865,682 bp from pter 33,372,115 bp from centromere
Size:
121,647 bases 121,557 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U52962
genomic clones: CTD2308H15 to pT1957


(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.)
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UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613 (See protein sequence)
Recommended Name: Pericentrin  
Size: 3336 amino acids; 378037 Da
Subunit: Interacts with CHD3. Interacts with CHD4; the interaction regulates centrosome integrity (By similarity).
Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to
centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2
Sequence caution: Sequence=AAD10838.1; Type=Frameshift; Positions=3320; Sequence=BAA23698.3; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAC04252.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: O43152 Q7Z7C9
Alternative splicing: 2 isoforms:  O95613-1   O95613-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCNT: NX_O95613

Explore proteomics data for PCNT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys505, Lys788, Lys2932, Lys2944, Lys3057
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_006022.3  
    ENSEMBL proteins: 
     ENSP00000352572   ENSP00000404708  
    Reactome Protein details: O95613

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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:
     IPR024151 Pericentrin
     IPR019528 PACT_domain

    Graphical View of Domain Structure for InterPro Entry O95613

    ProtoNet protein and cluster: O95613

    UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613
    Domain: Composed of a coiled-coil central region flanked by non-helical N- and C-terminals


    PCNT 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCNT_HUMAN, O95613
    Function: Integral component of the filamentous matrix of the centrosome involved in the initial establishment of
    organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule
    network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in
    preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome

         Genatlas biochemistry entry for PCNT:
    murine pericentrin homolog (integral component of the filamentous matrix of the centrosome),>100kDa

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12812986
    GO:0005516calmodulin binding IEA--
         
    PCNT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PCNT:
     Synthetic lethal with c-Myc af 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pcnt):
     behavior/neurological  cellular  embryogenesis  growth/size/body  limbs/digits/tail 
     mortality/aging  nervous system 

    PCNT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCNT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCNT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCNT

    miRNA
    Products:
        
    miRTarBase miRNAs that target PCNT:
    hsa-mir-30a-5p (MIRT028428), hsa-mir-30b-5p (MIRT046166), hsa-mir-30e-5p (MIRT044148), hsa-mir-155-5p (MIRT020608), hsa-mir-615-3p (MIRT040017), hsa-mir-484 (MIRT041629), hsa-mir-193b-3p (MIRT016284), hsa-mir-222-3p (MIRT046776), hsa-mir-26b-5p (MIRT029023)

    Block miRNA regulation of human, mouse, rat PCNT using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PCNT:
    hsa-miR-3671 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidPCNT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PCNT

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PCNT (NM_006031)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCNT


    (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
    PCNT_HUMAN, O95613: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Centrosomal at all
    stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized
    with DISC1 at the centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IEA--
    GO:0005815microtubule organizing center ----
    GO:0005829cytosol TAS--

    PCNT 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).
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    SuperPaths for PCNT 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 PCNT
        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



    PCNT for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for PCNT

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

    Selected Interacting proteins for PCNT (O956131, 2, 3 ENSP000003525724) via UniProtKB, MINT, STRING, and/or I2D (see all 643)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-530012,EBI-529989 I2D: score=3 STRING: ENSP00000355596
    DYNC1LI1Q9Y6G92, 3, ENSP000002731304MINT-7947479 I2D: score=1 STRING: ENSP00000273130
    MTA2O947762, 3, ENSP000002788234MINT-7947479 I2D: score=1 STRING: ENSP00000278823
    RITA1Q96K302, 3MINT-8094907 I2D: score=1 
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000226microtubule cytoskeleton organization IMP18955030
    GO:0000278mitotic cell cycle TAS--
    GO:0001701in utero embryonic development IEA--
    GO:0001764neuron migration IEA--

    PCNT 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)
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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 PCNT

    2 Novoseek inferred chemical compound relationships for PCNT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 60.3 1 14620743 (1)
    aspartate 0 1 17314514 (1)



    PCNT for compounds           About GeneDecksing



    (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 )
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    REFSEQ mRNAs for PCNT gene: 
    NM_006031.5  

    Unigene Cluster for PCNT:

    Pericentrin
    Hs.474069  [show with all ESTs]
    Unigene Representative Sequence: NM_006031
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359568(uc002zji.4) ENST00000490468(uc010gqk.1) ENST00000480896(uc002zjj.3)
    ENST00000466474 ENST00000483844 ENST00000482575 ENST00000418394 ENST00000465356

    miRNA
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    Block miRNA regulation of human, mouse, rat PCNT using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate PCNT:
    hsa-miR-3671 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidPCNT 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCNT
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PCNT
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PCNT
      QuantiTect SYBR Green Assays in human, mouse, rat PCNT
      QuantiFast Probe-based Assays in human, mouse, rat PCNT

    Additional mRNA sequence: 

    AB007862.3 AF515282.1 AK024009.1 AK093923.1 AK296731.1 BC035913.1 U52962.1 

    20 DOTS entries:

    DT.444851  DT.100781365  DT.92429996  DT.91707801  DT.92429997  DT.100781362  DT.95364953  DT.95364954 
    DT.444852  DT.92429991  DT.95364955  DT.100781363  DT.40108700  DT.40230302  DT.40285789  DT.91794556 
    DT.91904409  DT.95113900  DT.97779100  DT.100024957 

    Selected AceView cDNA sequences (see all 163):

    AI220041 AW004972 BF438100 AL703675 NM_006031 AW452809 CA976041 CR626553 
    AL044798 AI332441 AB007862 BX504936 AA306406 C21273 N54774 T07674 
    BQ232886 BQ433454 AA454507 AW274704 AA991614 BE350864 AF515282 AI580194 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PCNT (see all 19)    About this scheme

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

    ExUns: 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c · 31d ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^ 36a ·
    SP1:                          -                                                                 -                 -                       -                 -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 36b · 36c ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43a · 43b · 43c · 43d ^ 44a · 44b ^ 45 ^ 46a · 46b ^ 47 ^ 48a · 48b · 48c ^ 49a · 49b ^ 50 ^ 51a ·
    SP1:  -     -                                         -                                               -                             -           -           -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                -           -     -     -   
    SP5:                                                                                                                                -           -     -     -   

    ExUns: 51b ^ 52a · 52b · 52c ·
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:  -                     
    SP5:                        


    ECgene alternative splicing isoforms for PCNT

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


    PCNT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Skeletal Muscle (Muscoskeletal System)
    PCNT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCNT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474069

    UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613
    Tissue specificity: Expressed in all tissues tested, including placenta, liver, kidney and thymus

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    (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 PCNT gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcnt5 pericentrin (kendrin)   --   10 (38.80 cM) 76351254 
    chicken
    (Gallus gallus)
    Aves PCNT1 pericentrin 54.4(n)
    43.58(a)
      424039  XM_004942559.1  XP_004942616.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCNT6
    pericentrin
    34(a)
    1 ↔ 1
    GL343645.1(51349-136689)
    zebrafish
    (Danio rerio)
    Actinopterygii pcnt6
    pericentrin
    22(a)
    1 ↔ 1
    6(11183233-11273818) ENSDARG00000033012


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCNT gene
    AKAP92  
    1 SIMAP similar gene for PCNT using alignment to 3 protein entries:     PCNT_HUMAN (see all proteins):
    AKAP9

    PCNT for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PCNT
    PGOHUM00000239187


    (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 PCNT (see all 3810)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194790631,2
    C,Fpathogenic147786998(+) GAACCA/G/TAAGTG 2 E * stg11NA 4332
    rs58442661,2
    C--47744903(+) GCGTAG/-CGCTG 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs786254101,2
    C,F--47745803(+) AAGATG/ATGAGA 1 -- int11Minor allele frequency- A:0.08NA 120
    rs1144517531,2
    F--47745851(+) CTTGTC/TTCAGA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1832638831,2
    --47745921(+) GCAAGA/GAGGGA 1 -- int10--------
    rs1876219841,2
    --47745991(+) TTTATA/CCAAAT 1 -- int10--------
    rs1925210431,2
    --47746004(+) TTTTTA/GAAGTT 1 -- int10--------
    rs2017230881,2
    --47746312(+) AGAGAA/GAAACA 2 K E mis10--------
    rs1128370711,2
    C,F--47746375(+) CTGTCG/CATGCG 2 /H /D mis12Minor allele frequency- C:0.00CSA NA 4553
    rs2018086211,2
    C--47746413(+) AAGGAG/AGACAG 2 /E syn11Minor allele frequency- A:0.00EU 1323

    HapMap Linkage Disequilibrium report for PCNT (47744036 - 47865682 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PCNT (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1006886CNV Deletion20482838
    esv2014405CNV Deletion18987734
    esv2292596CNV Deletion18987734
    esv4867CNV Deletion18987735
    nsv821371CNV Deletion20802225
    esv2673664CNV Deletion23128226
    esv1965087CNV Deletion18987734
    esv2518438CNV Insertion19546169
    nsv513581CNV Insertion21212237
    dgv4818n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PCNT
    Locus Specific Mutation Databases (LSDB): PCNT

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PCNT

    (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: 605925   
    OMIM disorders: 210720  
    UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613
  • Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2) [MIM:210720]: Adults with this rare inherited
    condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby,
    but are of near-normal intelligence. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for PCNT (see all 31):    
    About MalaCards
    dwarfism    microcephalic osteodysplastic primordial dwarfism type 2    seckel syndrome    seckel syndrome type 1
    bipolar disorder    cerebellar ataxia    major depressive disorder    mantle cell lymphoma
    microcephaly    vaccinia    schizophrenia    myeloid leukemia
    chronic myeloid leukemia    down syndrome    intellectual disability    ataxia
    acute myeloid leukemia    insulin resistance    prostate cancer    cerebritis

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

    PCNT for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PCNT gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bipolar disorder 32 11 17884020 (5), 19191256 (2), 19448849 (1)
    schizophrenia 16.5 14 19191256 (4), 17884020 (3), 20096683 (2), 19448849 (1)
    chromosomal aberrations 8.28 1 20062006 (1)
    genetic disorder 4.32 1 8812505 (1)
    breast carcinoma 0 2 10823944 (1), 14506732 (1)
    psychiatric disorder 0 2 17664024 (1), 17389905 (1)
    shock 0 5 8886893 (3), 8557693 (1)
    glioma 0 1 16251193 (1)
    tumors 0 6 18701509 (4), 15878869 (1)
    carcinoma 0 2 11864908 (1), 10613729 (1)

    Genetic Association Database (GAD): PCNT
    Human Genome Epidemiology (HuGE) Navigator: PCNT (7 documents)

    Export disorders for PCNT 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 PCNT gene, integrated from 10 sources (see all 154):
    (articles sorted by number of sources associating them with PCNT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1997)
    2. Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1. (PubMed id 11171385)1, 2, 9 Li Q.... Balczon R. (J. Cell Sci. 2001)
    3. Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder. (PubMed id 19191256)1, 4, 9 Anitha A....Mori N. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    4. Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder. (PubMed id 17884020)1, 4, 9 Anitha A....Mori N. (Biol. Psychiatry 2008)
    5. Positive association of the pericentrin (PCNT) gene with major depressive disorder in the Japanese population. (PubMed id 19448849)1, 4, 9 Numata S....Ohmori T. (amp 2009)
    6. Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin. (PubMed id 10823944)1, 2, 9 Flory M.R.... Davis T.N. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. (PubMed id 8812505)1, 3, 9 Chen H....Antonarakis S.E. (Genomics 1996)
    8. Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (PubMed id 18157127)1, 2, 9 Griffith E.... O'Driscoll M. (Nat. Genet. 2008)
    9. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. (PubMed id 18174396)1, 2, 9 Rauch A.... Reis A. (Science 2008)
    10. 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)

    (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: 5116 HGNC: 16068 AceView: PCNT2 Ensembl:ENSG00000160299 euGenes: HUgn5116
    ECgene: PCNT H-InvDB: PCNT

    (According to HUGE)
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    HUGE: KIAA0402

    (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 PCNT 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 PCNT gene:
    Search GeneIP for patents involving PCNT

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



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