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

PLAG1 Gene

protein-coding   GIFtS: 60
GCID: GC08M057073

Pleiomorphic Adenoma Gene 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pleiomorphic Adenoma Gene 11 2     COL1A2/PLAG1 Fusion2
PSA2 5     Zinc Finger Protein PLAG12
SGPA2 5     Pleiomorphic Adenoma Gene 1 Protein3
ZNF9122     

External Ids:    HGNC: 90451   Entrez Gene: 53242   Ensembl: ENSG000001816907   OMIM: 6030265   UniProtKB: Q6DJT93   

Export aliases for PLAG1 gene to outside databases

Previous GC identifers: GC08M056256 GC08M057012 GC08M056796 GC08M057123 GC08M057236 GC08M052540


(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 PLAG1 Gene:
Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1,
which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the
salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of
salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PLAG1 Gene: 
PLAG1 (pleiomorphic adenoma gene 1) is a protein-coding gene. Diseases associated with PLAG1 include vulvar leiomyoma, and adenomas, salivary gland pleomorphic. GO annotations related to this gene include DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ZNF768.

UniProtKB/Swiss-Prot: PLAG1_HUMAN, Q6DJT9
Function: Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading
to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and
transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells
with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas
of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently
observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene
important for myeloid leukemia

Gene Wiki entry for PLAG1 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)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLAG1 gene promoter:
         Pbx1a   Nkx2-2   STAT3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   HNF-3beta   POU3F2   LyF-1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLAG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PLAG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLAG1


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

Entrez Gene cytogenetic band: 8q12   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12

PLAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLAG1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M057073:  view genomic region     (about GC identifiers)

Start:
57,073,463 bp from pter      End:
57,123,883 bp from pter
Size:
50,421 bases      Orientation:
minus strand

(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: PLAG1_HUMAN, Q6DJT9 (See protein sequence)
Recommended Name: Zinc finger protein PLAG1  
Size: 500 amino acids; 55909 Da
Subunit: Interacts with KPNA2, which escorts protein to the nucleus via interaction with nuclear localization
signal. Interacts with E3 SUMO-protein ligase PIAS1, PIAS2 and PIAS4
Subcellular location: Nucleus. Note=Strong nucleolar localization when sumoylation is inhibited
Miscellaneous: Residual nuclear import after mutation of the nuclear localization signal is assigned to zinc
finger domains of PLAG1
Miscellaneous: When cultured cells transformed by PLAG1 overexpression are injected in nude mouse, rapidly growing
tumors (fibrosarcomaS) are observed at the site of inoculation
Sequence caution: Sequence=BAD92368.1; Type=Erroneous initiation;
Secondary accessions: B4DLC2 Q59GH8 Q9Y4L2
Alternative splicing: 2 isoforms:  Q6DJT9-1   Q6DJT9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLAG1: NX_Q6DJT9

Explore proteomics data for PLAG1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated with SUMO1; which inhibits transcriptional activity, but does not affect nuclear localization. Blockers
    of sumoylation pathway such as SENP3 and inactive UBE2I increases transcriptional capacity. Sumoylation is
    increased in the presence of PIAS1
  • UniProtKB: Acetylated by lysine acetyltransferase EP300; which activates transcriptional capacity. Lysine residues that are
    sumoylated also seem to be target for acetylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6DJT9

  • PLAG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLAG1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001108106.1  NP_001108107.1  NP_002646.2  

    ENSEMBL proteins: 
     ENSP00000325546   ENSP00000404067   ENSP00000416537  

    Human Recombinant Protein Products for PLAG1: 
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    OriGene Protein Over-expression Lysate for PLAG1
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    GenScript Custom Purified and Recombinant Proteins Services for PLAG1
    Novus Biologicals PLAG1 Protein
    Novus Biologicals PLAG1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLAG1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--

    PLAG1 for ontologies           About GeneDecksing



    PLAG1 Antibody Products: 
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    ThermoFisher Antibodies for PLAG1
    LSBio Antibodies in human, mouse, rat for PLAG1 

    Assay Products for PLAG1: 
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    Cloud-Clone Corp. ELISAs for PLAG1 
    Cloud-Clone Corp. CLIAs for PLAG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q6DJT9

    ProtoNet protein and cluster: Q6DJT9

    UniProtKB/Swiss-Prot: PLAG1_HUMAN, Q6DJT9
    Domain: C2H2-type zinc fingers 3 interacts with DNA-binding site G-clusterinc fingers. C2H2-type zinc fingers 6
    and 7 interact with DNA-binding site core sequence
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 7 C2H2-type zinc fingers


    PLAG1 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: PLAG1_HUMAN, Q6DJT9
    Function: Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading
    to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and
    transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells
    with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas
    of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently
    observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene
    important for myeloid leukemia

         Genatlas biochemistry entry for PLAG1:
    putative pleomorphic adenoma gene 1,not normally expressed in adult tissues,fused with beta catenin in
    adenomas,with translocation t(3;8)(p21;q12),see ADPL,PSA2 and with TCEA1 t(3;8)(p21;q12) in salivary adenomas
    (see PSA2)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IBA--
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9722527
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    PLAG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PLAG1:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Plag1):
     embryogenesis  endocrine/exocrine gland  growth/size  reproductive system  vision/eye 

    PLAG1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLAG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLAG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLAG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLAG1 

    miRNA
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    miRTarBase miRNAs that target PLAG1:
    hsa-mir-424 (MIRT000696), hsa-mir-107 (MIRT000371), hsa-mir-375 (MIRT003057), hsa-mir-144 (MIRT003058), hsa-mir-181a (MIRT000698), hsa-mir-26a (MIRT001772), hsa-mir-181b (MIRT000697)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLAG1
    8/152 QIAGEN miScript miRNA Assays for microRNAs that regulate PLAG1 (see all 152):
    hsa-miR-640 hsa-miR-193a-3p hsa-miR-376b hsa-miR-199a-3p hsa-miR-106a hsa-miR-128 hsa-miR-138-2* hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLAG1
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                         Customized lentivirus expression plasmids for stable overexpression of PLAG1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PLAG1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAG1


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLAG1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for PLAG1 (Q6DJT92, 3 ENSP000003255464) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3MINT-61729 I2D: score=3 
    KPNA2P522923, ENSP000003324554I2D: score=2 STRING: ENSP00000332455
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter IBA--
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0010628positive regulation of gene expression IEA--
    GO:0010629negative regulation of gene expression IEA--
    GO:0022612gland morphogenesis IEA--

    PLAG1 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

    PLAG1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PLAG1

    1 HMDB Compound for PLAG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    3 Novoseek inferred chemical compound relationships for PLAG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 44.6 13 9722527 (2), 10029085 (1), 9268638 (1), 10334569 (1) (see all 11)
    sialic acid 31.7 9 8567623 (3), 11089916 (1), 10850459 (1)
    oligonucleotide 9.89 1 14712223 (1)

    Search CenterWatch for drugs/clinical trials and news about PLAG1

    (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 PLAG1 gene (3 alternative transcripts): 
    NM_001114634.1  NM_001114635.1  NM_002655.2  

    Unigene Cluster for PLAG1:

    Pleiomorphic adenoma gene 1
    Hs.14968  [show with all ESTs]
    Unigene Representative Sequence: NM_002655
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316981(uc003xsq.4 uc003xsr.4 uc010lyi.3 uc010lyj.3)
    ENST00000522009 ENST00000423799 ENST00000429357 ENST00000519027
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLAG1
    8/152 QIAGEN miScript miRNA Assays for microRNAs that regulate PLAG1 (see all 152):
    hsa-miR-640 hsa-miR-193a-3p hsa-miR-376b hsa-miR-199a-3p hsa-miR-106a hsa-miR-128 hsa-miR-138-2* hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLAG1
    Clone
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    OriGene clones in human, mouse for PLAG1 (see all 18)
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    GenScript: all cDNA clones in your preferred vector (see all 3): PLAG1 (NM_002655)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLAG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLAG1
    Sirion Biotech Customized lentivirus for stable overexpression of PLAG1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLAG1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLAG1

    Additional mRNA sequence: 

    AB209131.1 AF221549.1 AF221550.1 AK296933.1 AK313663.1 BC075047.2 BC075048.2 EF525168.1 
    EF525169.1 EF525170.1 U65002.1 U78783.1 

    5 DOTS entries:

    DT.413427  DT.95109227  DT.75175426  DT.100741100  DT.100808133 

    24/48 AceView cDNA sequences (see all 48):

    BX402039 AA707386 N79057 AA628501 AA418372 BC075048 AA706806 AA621141 
    AW339499 W23999 CA413047 BC075047 BF115791 AI334157 CA411972 BF432133 
    AI873014 BG613583 BU686683 AA418251 AU138448 AW007402 AW274762 BU181917 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PLAG1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
    SP1:                                -                 -     -                           
    SP2:                                -                                                   
    SP3:                          -     -                                                   
    SP4:                          -     -           -     -     -                           
    SP5:                                                                                    


    ECgene alternative splicing isoforms for PLAG1

    (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

    PLAG1 expression in normal human tissues (normalized intensities)      PLAG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATCGTGT
    PLAG1 Expression
    About this image


    PLAG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             stem cells (umbilical cord cd34+)   
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Amnion (Extraembryonic Tissues)
             amniotic fluid   

    See PLAG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLAG1

    SOURCE GeneReport for Unigene cluster: Hs.14968

    UniProtKB/Swiss-Prot: PLAG1_HUMAN, Q6DJT9
    Tissue specificity: Expressed in fetal tissues such as lung, liver and kidney. Not detected or weak detection in
    normal adult tissues, but highly expressed in salivary gland with benign or malignant pleiomorphic adenomas with
    or without 8q12 abberations, with preferential occurrence in benign tumors

        SABiosciences Custom PCR Arrays for PLAG1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLAG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAG1

    (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 chordates.

    Orthologs for PLAG1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plag11 , 5 pleiomorphic adenoma gene 11, 5 90.51(n)1
    95.59(a)1
      4 (2.18 cM)5
    567111  NM_019969.31  NP_064353.21 
     39009965 
    chicken
    (Gallus gallus)
    Aves PLAG11 pleiomorphic adenoma gene 1 87.17(n)
    91.38(a)
      429484  NM_001031577.1  NP_001026748.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLAG16
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343244.1(98298-104959)
    zebrafish
    (Danio rerio)
    Actinopterygii plag16
    pleiomorphic adenoma gene 1
    60(a)
    1 ↔ 1
    7(59975152-59987870)


    ENSEMBL Gene Tree for PLAG1 (if available)
    TreeFam Gene Tree for PLAG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLAG1 gene
    ZNF7682  PLAGL12  PLAGL22  
    18/32 SIMAP similar genes for PLAG1 using alignment to 3 protein entries:     PLAG1_HUMAN (see all proteins) (see all similar genes):
    PLAGL1    A-328A3.4    PLAGL2    ZNF55    ZNF72    DKFZp434J0650
    ZNF663    ZNF808    kr-znf3    ZNF78L1    ZNF    DKFZp686O1631
    ZNF702P    DKFZp313M0722    DKFZp686N0199    ZFS-5    ZNF323    ZNF844

    PLAG1 for paralogs           About GeneDecksing



    (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

    10/951 SNPs in PLAG1 are shown (see all 951)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2002018651,2
    C--52566643(+) GCATTAA/-AAAAA 3 -- int11Minor allele frequency- -:0.50NA 2
    rs1490109251,2
    C--57076232(+) GTGTG-/TATATAT 3 -- ut310--------
    rs2002605601,2
    C--57076880(+) TGTGT-/GT/TG 
            
    ATTAT
    6 -- ut310--------
    rs574397581,2
    C--57078551(+) TATGG-/AAAAAA 3 -- ut310--------
    rs345220631,2
    C--57086148(+) AAAAAA/-CTCAC 3 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs346851951,2
    C--57088606(+) TTTTTT/-TTTTT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs677699391,2
    C--57090638(+) AACTA-/CAGG  
            
    TTGAT
    3 -- int10--------
    rs119865421,2
    C,F,H--57090642(+) ACAGGT/CTGATC 3 -- int16Minor allele frequency- C:0.01NS EA NA 290
    rs106915851,2
    C--57092363(+) CTTAT-/CTT   
      T
    /TTTC
    TTTAT
    3 -- int11CSA 2
    rs3701674331,2
    C--57101354(+) GAGAA-/GGCCAC 3 -- int10--------

    HapMap Linkage Disequilibrium report for PLAG1 (57073463 - 57123883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PLAG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv26536CNV Gain19812545
    nsv433401CNV Gain18776910
    nsv890931CNV Gain21882294
    nsv442108CNV CNV18776908

    SABiosciences Cancer Mutation PCR Assays
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    (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: 603026   
    OMIM disorders: 181030  
    UniProtKB/Swiss-Prot: PLAG1_HUMAN, Q6DJT9
  • Note=A chromosomal aberration involving PLAG1 is found in salivary gland pleiomorphic adenomas, the most
    common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with constituvely expressed
    beta-catenin/CTNNB1. Fusion occurs in the 5'-regulatory regions, leading to promoter swapping between the 2 genes
    and activation of PLAG1 expression in adenomas. The chimeric transcript is formed by fusion of CTNNB1 exon 1 to
    PLAG1 exon 3. Reciprocal fusion transcript consisting of PLAG1 exon 1 and CTNNB1 exon 2-16 is also revealed in
    some adenomas. Translocation t(3;8)(p21;q12) with transcription elongation factor SII/TCEA1. The fusion
    transcript is composed of 5'-non-coding sequences as well as 63 nucleotides of the coding region of TCEA1 fused
    to the acceptor splice site of PLAG1 exon 3. The fusion transcript encodes a truncated TCEA1-PLAG1 protein of 90
    AA as well as an apparently normal PLAG1 protein. Reciprocal fusion transcript PLAG1-TCEA1 is also present in one
    adenoma. Translocation t(5;8)(p13;q12) with leukemia inhibitory factor receptor LIFR. This fusion occured in the
    5'-non-coding sequences of both genes, exchanging regulatory control element while preserving the coding
    sequences. Translocation t(6;8)(p21.3-22;q13) with Coiled-coil-helix-coiled-coil-helix domain-containing protein
    7/CHCHD7. Fusion occurs in the 5' regulatory regions, leading to promoter swapping and up-regulation of PLAG1
    expression. Ectopic expression of PLAG1 under the control of promoters of distinct translocation partner genes is
    a general pathogenetic mechanism for pleiomorphic adenomas with 8q aberrations. These fusion genes are likely to
    be found in adenomas with normal karyotype as this subgroup of tumors also exhibit PLAG1 activation
  • Note=A chromosomal aberration involving PLAG1 may be a cause of lipoblastomas, which are benign tumors
    resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal
    rearrangement with hyaluronic acid synthase 2/HAS2 results in promoter swapping and activation of PLAG1
    expression. The breakpoint of HAS2 gene is in PLAG1 intron 1, whereas its coding sequence starts at exon 2 or
    exon 3. Translocation t(7;8)(p22;q13) with collagen 1A2/COL1A2. Fusion transcript COL1A2-PLAG1 as well as
    HAS2-PLAG1 encode a full-length PLAG1 protein

  • 20/30 diseases for PLAG1 (see all 30):    About MalaCards
    vulvar leiomyoma    adenomas, salivary gland pleomorphic    lipoblastoma    angiomatosis
    atypical lipomatous tumor    pleomorphic adenoma carcinoma    cell type cancer    mixed cell type cancer
    adenoma    pleomorphic adenoma    benign tumors    lipoma
    myoepithelioma    ring chromosomes    hepatoblastoma    salivary gland cancer
    gastrointestinal stromal tumor    liposarcoma    fibrosarcoma    acute myeloid leukemia

    5 diseases from the University of Copenhagen DISEASES database for PLAG1:
    Pleomorphic adenoma     Vulvar leiomyoma     Adenoma     Lipoma
    Liposarcoma

    PLAG1 for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for PLAG1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    salivary gland adenoma, pleomorphic 93.9 5 16108035 (2), 10334569 (1), 15208321 (1), 15920557 (1)
    adenoma pleomorphic 89.9 57 15920557 (5), 11555676 (4), 16108035 (4), 18604193 (3) (see all 19)
    lipoma 60.7 2 17370328 (1), 18474299 (1)
    hepatoblastoma 57.9 3 14695992 (2), 17332914 (1)
    benign tumor 54.4 2 10029085 (1)
    adenoma 47.4 25 15920557 (4), 9088130 (2), 10646861 (2), 10029085 (1) (see all 8)
    tumors 42.5 58 10029085 (6), 18604193 (3), 15920557 (3), 16108035 (3) (see all 22)
    chromosomal aberrations 37.2 2 9268638 (1), 9722527 (1)
    small cell lung cancer 17.1 3 7559389 (2)
    primary tumor 14 1 10850459 (1)

    Genetic Association Database (GAD): PLAG1
    Human Genome Epidemiology (HuGE) Navigator: PLAG1 (4 documents)

    Export disorders for PLAG1 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 PLAG1 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with PLAG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. (PubMed id 10029085)1, 2, 9 Astroem A.-K.... Stenman G. (1999)
    2. PLAG1, the main translocation target in pleomorphic adenoma of the salivary glands, is a positive regulator of IGF-II. (PubMed id 10646861)1, 2, 9 Voz M.L.... Kas K. (2000)
    3. Repression of the transactivating capacity of the oncoprotein PLAG1 by SUMOylation. (PubMed id 15208321)1, 2, 9 Van Dyck F.... Chavez M.V. (2004)
    4. The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas results in upregulation of PLAG1 gene expression under control of the LIFR promoter. (PubMed id 9525740)1, 2, 9 Voz M.L....Van de Ven W.J.M. (1998)
    5. CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. (PubMed id 16736500)1, 2, 9 Asp J.... Stenman G. (2006)
    6. Transcriptional activation capacity of the novel PLAG family of zinc finger proteins. (PubMed id 9722527)1, 2, 9 Kas K.... Van de Ven W.J.M. (1998)
    7. PLAG1 fusion oncogenes in lipoblastoma. (PubMed id 10987300)1, 2, 9 Hibbard M.K....Fletcher J.A. (2000)
    8. Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. (PubMed id 9020842)1, 2, 9 Kas K....Van de Ven W.J.M. (1997)
    9. Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma. (PubMed id 14695992)1, 2, 9 Zatkova A.... Wimmer K. (2004)
    10. A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands. (PubMed id 9268638)1, 3, 9 Kas K....Van de Ven W.J. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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: 5324 HGNC: 9045 AceView: PLAG1 Ensembl:ENSG00000181690 euGenes: HUgn5324
    ECgene: PLAG1 H-InvDB: PLAG1

    (According to HUGE)
    About This Section
      --

    (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 PLAG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PLAG1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLAG1 gene:
    Search GeneIP for patents involving PLAG1

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



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