Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PCNT Gene

protein-coding   GIFtS: 64
GCID: GC21P047744

Pericentrin

(Previous name: pericentrin 2 (kendrin))
(Previous symbol: PCNT2)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
pericentrin1 2     PCNTB2
PCNT21 2 3 5     PCTN22
kendrin1 2     Pericentrin B2
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
PCN2     

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

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, and among its related super-pathways are G2/M Transition and Cell Cycle, Mitotic. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PCNT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95613

  • PCNT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PCNT Protein Expression
    REFSEQ proteins: NP_006022.3  
    ENSEMBL proteins: 
     ENSP00000352572   ENSP00000404708  
    Reactome Protein details: O95613
    Human Recombinant Protein Products for PCNT: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PCNT
    GenScript Custom Purified and Recombinant Proteins Services for PCNT
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PCNT 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



    PCNT Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PCNT
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PCNT
    GenScript Custom Superior Antibodies Services for PCNT
    Novus Biologicals PCNT Antibodies
    Abcam antibodies for PCNT
    Cloud-Clone Corp. Antibodies for PCNT 
    Search ThermoFisher Antibodies for PCNT
    LSBio Antibodies in human, mouse, rat for PCNT 

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  limbs/digits/tail 
     mortality/aging  nervous system 

    PCNT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PCNT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCNT

       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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCNT
    3 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCNT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCNT

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


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PCNT (see all 5)
    OriGene ORF clones in mouse, rat for PCNT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PCNT (NM_006031)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCNT
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PCNT

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PCNT
    Search LifeMap BioReagents cell lines for PCNT
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCNT


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCNT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for PCNT (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



    PCNT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PCNT

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

    5/616 Interacting proteins for PCNT (O956131, 2, 3 ENSP000003525724) via UniProtKB, MINT, STRING, and/or I2D (see all 616)
    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
    C12orf52Q96K302, 3MINT-8094907 I2D: score=1 
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PCNT for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about PCNT

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCNT
    3 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCNT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCNT
    Clone
    Products:
         
    OriGene clones in human, mouse for PCNT (see all 5)
    OriGene ORF clones in mouse, rat for PCNT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PCNT (NM_006031)
    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
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PCNT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCNT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCNT
      QIAGEN 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 

    24/163 AceView cDNA sequences (see all 163):

    AI220041 NM_006031 AA306406 BM977718 AA991614 AF515282 BX504936 BM452021 
    N54774 AL703675 CR626553 AW452809 AB007862 BQ232886 C21273 T07674 
    AW274704 AI580194 BE350864 BF438100 AW004972 AL044798 AI332441 BQ433454 

    GeneLoc Exon Structure

    5/19 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™, 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

    PCNT expression in normal human tissues (normalized intensities)      PCNT embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             skeletal muscle ; myocytes   
             gastrocnemius muscle   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             kidney ; cells in tubules   
             visceral organ/mesonephros/nephric duct, mesonephric portion   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   

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

    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

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCNT

    (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 PCNT gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcnt1 , 5 pericentrin (kendrin)1, 5 68.04(n)1
    59.28(a)1
      10 (38.80 cM)5
    185411  NM_008787.31  NP_032813.31 
     763512545 
    chicken
    (Gallus gallus)
    Aves PCNT1 pericentrin 47.43(n)
    36.16(a)
      424039  XM_421895.3  XP_421895.3 
    lizard
    (Anolis carolinensis)
    Reptilia PCNT6
    Uncharacterized protein
    31(a)
    1 ↔ 1
    GL343645.1(51349-136689)
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fc85c011 wu:fc85c01 45.63(n)
    33.23(a)
      325536  XM_002662304.2  XP_002662350.2 
    worm
    (Caenorhabditis elegans)
    Secernentea lfi-16
    Protein LFI-1, isoform e
    7(a)
    1 → many
    X(4983066-4993236)


    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)
    About This Section
    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) 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

    10/3810 SNPs in PCNT are shown (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
    VAR_0694204
    ----see VAR_0694202 G R mis40--------
    VAR_0694214
    ----see VAR_0694212 R Q mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCNT
    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/28 diseases for PCNT (see all 28):    About MalaCards
    dwarfism    microcephalic osteodysplastic primordial dwarfism type 2    seckel syndrome 4    seckel syndrome
    bipolar disorder    cerebellar ataxia    major depressive disorder    mantle cell lymphoma
    prostate cancer, progression of    microcephaly    vaccinia    schizophrenia
    myeloid leukemia    chronic myeloid leukemia    down syndrome    ataxia
    acute myeloid leukemia    insulin resistance    glioblastoma    prostate cancer

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

    PCNT for disorders           About GeneDecksing

    10/11 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)
    About This Section

    PubMed articles for PCNT gene, integrated from 9 sources (see all 150):
    (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. (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. (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. (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. (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. (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. (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. (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. (2008)
    9. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. (PubMed id 18174396)1, 2, 9 Rauch A....Reis A. (2008)
    10. Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex. (PubMed id 20466722)1, 2 Wang Z....Qi R.Z. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5116 HGNC: 16068 AceView: PCNT2 Ensembl:ENSG00000160299 euGenes: HUgn5116
    ECgene: PCNT H-InvDB: PCNT

    (According to HUGE)
    About This Section
    HUGE: KIAA0402

    (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 PCNT Pharmacogenomics, SNPs, Pathways

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



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

     EMD Millipore Mono- and Polyclonal Antibodies for the study of PCNT
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

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

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PCNT
     QIAGEN SeqTarget long-range PCR primers for resequencing PCNT
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCNT
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCNT
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCNT
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCNT
     GenScript Custom Purified and Recombinant Proteins Services for PCNT GenScript cDNA clones with any tag delivered in your preferred vector for PCNT
     GenScript Custom Assay Services for PCNT GenScript Custom Superior Antibodies Services for PCNT
     GenScript Custom overexpressing Cell Line Services for PCNT CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PCNT promoter
     Search Chromatin IP Primers for PCNT
     RT2 qPCR Primer Assay in human, mouse, rat PCNT
     GNC Network for PCNT
     SABiosciences Custom PCR Arrays for PCNT
     Search Tocris compounds for PCNT
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PCNT antibodies
     Antibodies for PCNT
     See all of Abcam's Antibodies, Kits and Proteins for PCNT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for PCNT
     Antibodies for PCNT
     ELISAs for PCNT
     CLIAs for PCNT
     Search LifeMap BioReagents cell lines for PCNT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCNT
     SwitchGear 3'UTR luciferase reporter plasmids for PCNT
     SwitchGear Promoter luciferase reporter plasmids for PCNT
     Search ThermoFisher Antibodies for PCNT
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PCNT
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PCNT
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCNT
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     LSBio Antibodies in human, mouse, rat for PCNT
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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

    Hot genes      Disease genes      PCNT gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4