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

PCNT Gene

protein-coding   GIFtS: 61
GCID: GC21P047744

pericentrin

(Previous name: pericentrin 2 (kendrin) )
(Previous symbol: PCNT2)
 Explore 30 diseases affiliated with
PCNT via our new
 Human Malady Compendium 
Biological research products
for PCNT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Pericentrin1     Pericentrin, Kendrin (KIAA0402)11
PCNT21 2 3 5     PCTN22
KEN1 2 5     Kendrin3
SCKL41 2 5     Pericentrin B2
PCN1 2     Pericentrin-21
PCNTB1 2     Pericentrin-3801
KIAA04021 3     Pericentrin-B3
MOPD22 5     Kendrin3
Pericentrin 2 (Kendrin)1     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PCNT:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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, 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95613

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

    REFSEQ proteins: NP_006022.3  
    ENSEMBL proteins: 
     ENSP00000352572   ENSP00000404708  
    Reactome Protein details: O95613
    Human Recombinant Protein Products: 
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    Uscn 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: 
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    Assay Products for PCNT: 
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    Uscn ELISAs and CLIAs for PCNT


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

    PCNT for domains           About GeneDecksing

    2 InterPro domains/families:
     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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    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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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCNT

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15094396
    GO:0005516calmodulin binding IEA--


    PCNT for ontologies           About GeneDecksing


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

    Animal Models:
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for 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)

    5/588 Interacting proteins for PCNT (O956131, 2, 3 ENSP000003525724) via UniProtKB, MINT, STRING, and/or I2D (see all 588)
    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
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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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    Inhib. RNA
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    Additional cDNA 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):

    BQ433454 BM452021 BE350864 T07674 C21273 AF515282 BQ232886 AI580194 
    AI220041 AW452809 AL703675 BM977718 AL044798 AW004972 AW274704 N54774 
    BX504936 AA991614 AI332441 CR626553 AA306406 BF438100 CA976041 AA454507 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCCTGGCT

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

    About this image
    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

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PCNT gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PCNT1 pericentrin 47.43(n)
    36.16(a)
      424039  XM_421895.3  XP_421895.3 
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fc85c011 wu:fc85c01 45.63(n)
    33.23(a)
      325536  XM_002662304.2  XP_002662350.2 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    9(a)
    possible ortholog
    Group8.17(54593-62455)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G315706
    uncharacterized protein
    7(a)
    1 → many
    4(15297014-15306410)
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    11(a)
    1 → many
    2(2656063-2659126)


    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
    GOLGA42  GCC22  CEP2502  AKAP92  LOC7287632  CROCC2  EEA12  NUMA12  
    TRIP112  CENPF2  CNTRL2  GOLGB12  
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3097 NCBI SNPs in PCNT are shown (see all 3097    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,Fpathogenic47786998(+) GAACCA/G/TAAGTG 3 K E * mis1 stg11NA 4332
    rs1126301661,2
    --33124917(+) TAATTG/CCAGCT 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1133681391,2
    --33125235(+) CTGTTG/CCTGGA 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs2013869361,2
    C--33125726(+) GCCCGA/GAGGAC 1 -- ut510--------
    rs72830681,2
    C--33126281(+) AGTTCC/TTCTCT 1 -- ut510--------
    rs763287361,2
    F,--33126419(+) AGCCTC/TCTCCG 1 -- ut512Minor allele frequency- T:0.05WA NA 238
    rs38105921,2
    C,F,H--33126614(+) CGAACT/CTTTTG 1 -- ut512Minor allele frequency- C:0.22NS NA 282
    rs775585581,2
    F,--33126788(+) CAGAGC/TGCGCG 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs1157848901,2
    C,F,--33126810(+) GGAAAC/TGCAGC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs612306371,2
    C,--33127995(+) GCTGGG/TGTGCT 1 -- us2k13Minor allele frequency- T:0.32WA NA 240

    HapMap Linkage Disequilibrium report for PCNT (47744036 - 47865682 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for PCNT
         8 CNVs: 90833 67821 50792 79393 59581 50791 50790 73668
         5 Indels: 46197 46196 40489 41457 103125
    Human Gene Mutation Database (HGMD): PCNT

    Locus Specific Mutation Databases (LSDB): PCNT

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PCNT for disorders           About GeneDecksing

    OMIM gene information: 605925   
    OMIM disorders: 210720  
    UniProtKB/Swiss-Prot: PCNT_HUMAN, O95613
  • Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2)
  • [MIM:210720]; also known as osteodysplastic primordial dwarfism type 2. 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

    20/30 diseases for PCNT (see all 30):    About MalaCards
    microcephalic osteodysplastic primordial dwarfism type 2    seckel syndrome    dwarfism    seckel syndrome 4
    adenomatous polyposis coli    major depressive disorder    mantle cell lymphoma    myeloid leukemia
    bipolar disorder    cerebellar ataxia    chronic myeloid leukemia    acute myeloid leukemia
    insulin resistance    polyposis    prostate cancer, progression of    down syndrome
    microcephaly    prostate cancer    vaccinia    ataxia

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

    10/11 Novoseek 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)

    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 144):
    (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. 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)
    4. 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)
    5. 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)
    6. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. (PubMed id 18174396)1, 2, 9 Rauch A....Reis A. (2008)
    7. Involvement of a centrosomal protein kendrin in the m aintenance of centrosome cohesion by modulating Nek2A kinase activity. (PubMed id 20599736)1, 2 Matsuo K....Takahashi M. (2010)
    8. DISC1-kendrin interaction is involved in centrosomal microtubule network formation. (PubMed id 18955030)1, 2 Shimizu S....Tohyama M. (2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)

    (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



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