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PLAGL1 Gene

protein-coding   GIFtS: 58
GCID: GC06M144261

Pleiomorphic Adenoma Gene-Like 1

  See PLAGL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Pleiomorphic Adenoma Gene-Like 11 2     LOT-12 3
LOT12 3 5     ZAC12
ZAC2 3 5     PLAG-Like 12
Lost On Transformation 12 3     Tumor Supressor ZAC2
Pleiomorphic Adenoma-Like Protein 12 3     Zinc Finger Protein PLAGL12
Tumor Suppressor ZAC2 3     

External Ids:    HGNC: 90461   Entrez Gene: 53252   Ensembl: ENSG000001184957   OMIM: 6030445   UniProtKB: Q9UM633   

Export aliases for PLAGL1 gene to outside databases

Previous GC identifers: GC06M143884 GC06M144108 GC06M144242 GC06M144303 GC06M141825


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLAGL1 Gene:
This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to
have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition,
overexpression of this gene during fetal development is believed to underlie the rare disorder, transient
neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in
many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports
that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many
transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene.
(provided by RefSeq, Oct 2010)

GeneCards Summary for PLAGL1 Gene:
PLAGL1 (pleiomorphic adenoma gene-like 1) is a protein-coding gene. Diseases associated with PLAGL1 include adenoma, and paternal uniparental disomy of chromosome 6. GO annotations related to this gene include sequence-specific DNA binding RNA polymerase II transcription factor activity. An important paralog of this gene is ZNF768.

UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63
Function: Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for
pituitary adenylate cyclase-activating polypeptide

Gene Wiki entry for PLAGL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PLAGL1 gene promoter:
         AP-1   ATF-2   Msx-1   c-Jun   En-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PLAGL1 promoter sequence
   Search Chromatin IP Primers for PLAGL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLAGL1


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

Entrez Gene cytogenetic band: 6q24-q25   Ensembl cytogenetic band:  6q24.2   HGNC cytogenetic band: 6q24-q25

PLAGL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLAGL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M144261:  view genomic region     (about GC identifiers)

Start:
144,261,437 bp from pter      End:
144,385,735 bp from pter
Size:
124,299 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63 (See protein sequence)
Recommended Name: Zinc finger protein PLAGL1  
Size: 463 amino acids; 50819 Da
Subunit: Interacts with THRSP
Secondary accessions: B2RBA4 B2RCM8 E1P595 E1P597 O76019 Q7Z3V8 Q92981 Q96JR9 Q9UIZ0
Alternative splicing: 2 isoforms:  Q9UM63-1   Q9UM63-2   

Explore the universe of human proteins at neXtProt for PLAGL1: NX_Q9UM63

Explore proteomics data for PLAGL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLAGL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (21 alternative transcripts): 
    NP_001074420.1  NP_001074421.1  NP_001074422.1  NP_001074423.1  NP_001074424.1  NP_001074425.1  NP_001275966.1  NP_001275967.1  
    NP_001275968.1  NP_001275969.1  NP_001275970.1  NP_001275971.1  NP_001275972.1  NP_001275973.1  NP_001275974.1  NP_001275975.1  
    NP_001275976.1  NP_001275977.1  NP_001275978.1  NP_002647.2  NP_006709.2  

    ENSEMBL proteins: 
     ENSP00000353734   ENSP00000346810   ENSP00000356544   ENSP00000356543   ENSP00000395960  
     ENSP00000400929   ENSP00000398409   ENSP00000376125   ENSP00000400060   ENSP00000392418  
     ENSP00000376124  

    PLAGL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PLAGL1

     
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    Cloud-Clone Corp. ELISAs for PLAGL1
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    Search eBioscience for ELISAs for PLAGL1 


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

    5 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR027775 C2H2_Znf_fam
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR027770 PLAGL1
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9UM63

    ProtoNet protein and cluster: Q9UM63

    UniProtKB/Swiss-Prot: PLAL1_HUMAN, Q9UM63
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 7 C2H2-type zinc fingers


    Find genes that share domains with PLAGL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLAL1_HUMAN, Q9UM63
    Function: Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for
    pituitary adenylate cyclase-activating polypeptide

         Genatlas biochemistry entry for PLAGL1:
    pleomorphic adenoma gene-like 1,zinc finger protein,ubiquitously expressed from the paternal allele,maternally
    imprinted,regulating apoptosis and cell cycle arrest,growth suppressor gene,transcriptional regulator of the type
    1 receptor for pituitary adenylate cyclase-activating polypeptide,putative candidate for transcript neonatal
    diabetes mellitus (TNDM)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IBA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA15888725
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PLAGL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PLAGL1:
     Decreased melanin production 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Plagl1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  other 
     respiratory system  skeleton 

    Find genes that share phenotypes with PLAGL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PLAGL1: Plagl1tm1Jour Plagl1tm1Kmu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLAGL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PLAGL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLAGL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLAGL1

    miRNA
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    miRTarBase miRNAs that target PLAGL1:
    hsa-mir-98-5p (MIRT027731)

    Block miRNA regulation of human, mouse, rat PLAGL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLAGL1 (see all 40):
    hsa-miR-15a hsa-miR-128 hsa-miR-605 hsa-miR-503 hsa-miR-424 hsa-miR-3658 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidPLAGL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLAGL1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 8): PLAGL1 (NM_006718)
    Sino Biological Human cDNA Clone for PLAGL1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLAGL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAGL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLAL1_HUMAN, Q9UM63: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with PLAGL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including PLAGL1: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PLAGL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for PLAGL1 (Q9UM632, 3 ENSP000003468104) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3MINT-61727 I2D: score=3 
    DAXXQ9UER73, ENSP000002660004I2D: score=1 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=1 
    ENSG00000206279Q9UER73I2D: score=1 
    ENSG00000227046Q9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter IBA--
    GO:0006915apoptotic process IEA--
    GO:0007050cell cycle arrest TAS9184226
    GO:0010468regulation of gene expression ----

    Find genes that share ontologies with PLAGL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PLAGL1 (PLAL1)

    4 Novoseek inferred chemical compound relationships for PLAGL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 61.1 19 11313869 (3), 11310581 (1), 17559664 (1), 16575187 (1) (see all 14)
    octreotide 27.2 6 16452215 (3)
    adenylate 6.61 2 10655556 (1)
    testosterone 0 2 17376404 (1), 15264248 (1)



    Find genes that share compounds with PLAGL1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLAGL1 gene (21 alternative transcripts): 
    NM_001080951.1  NM_001080952.1  NM_001080953.1  NM_001080954.1  NM_001080955.1  NM_001080956.1  NM_001289037.1  NM_001289038.1  
    NM_001289039.1  NM_001289040.1  NM_001289041.1  NM_001289042.1  NM_001289043.1  NM_001289044.1  NM_001289045.1  NM_001289046.1  
    NM_001289047.1  NM_001289048.1  NM_001289049.1  NM_002656.3  NM_006718.3  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360537(uc003qjw.3 uc003qka.3) ENST00000354765(uc003qjv.3)
    ENST00000367572 ENST00000367571 ENST00000417959 ENST00000493898 ENST00000444202(uc003qki.3 uc003qkj.3 uc003qkm.3 uc010khn.3 uc003qkn.3 uc003qko.3)
    ENST00000429150(uc003qjx.3 uc003qjy.3) ENST00000392309(uc010khl.3 uc003qjz.3 uc003qke.3 uc003qkh.3)
    ENST00000416623(uc010khm.3 uc003qkc.3 uc003qkf.3) ENST00000437412(uc003qkk.3 uc003qkl.3 uc003qkp.3)
    ENST00000392307(uc003qkb.3 uc003qkd.3 uc003qkg.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PLAGL1 (see all 40):
    hsa-miR-15a hsa-miR-128 hsa-miR-605 hsa-miR-503 hsa-miR-424 hsa-miR-3658 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidPLAGL1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat PLAGL1
      QuantiFast Probe-based Assays in human, mouse, rat PLAGL1

    Selected AceView cDNA sequences (see all 197):

    AI290376 BQ022070 BM978786 BX537397 R78330 R66981 AJ311395 BU754120 
    CA433293 Z41833 AK091707 BQ026948 F04439 R82617 AA463204 AI378024 
    BU624361 AL710540 AA297693 AI370739 BX100528 R71412 AU118993 AI653263 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLAGL1 (see all 29)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7 ^ 8a ·
    SP1:                                                        -     -                       -     -     -                             -     -     -           -   
    SP2:                                                        -     -     -                 -     -     -     -     -     -                       -     -     -   
    SP3:                                                                                      -     -     -     -     -     -           -     -     -     -     -   
    SP4:                                                        -     -     -                 -     -     -     -                                                   
    SP5:                                                        -     -     -                 -     -     -     -     -     -           -     -     -     -     -   

    ExUns: 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h · 10i ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g · 11h
    SP1:  -           -                                                                                                                           
    SP2:  -           -     -     -                                                                                                               
    SP3:  -           -     -     -                                                                                                               
    SP4:              -     -     -                                                                                                               
    SP5:  -           -     -     -           -     -     -     -     -     -     -     -     -                                                   


    ECgene alternative splicing isoforms for PLAGL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PLAGL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCATAATGT
    PLAGL1 Expression
    About this image


    PLAGL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Diencephalon
             Floor plate-like cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Visceral White Adipocytes Visceral White Adipose
             Visceral White Adipose
     
     Gonad
             Primordial Germ Cells Allantois
    PLAGL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLAGL1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including PLAGL1: 
              Apoptosis 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLAGL1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plagl11 , 5 pleiomorphic adenoma gene-like 11, 5 77.59(n)1
    70.19(a)1
      10 (4.72 cM)5
    226341  NM_009538.21  NP_033564.21 
     130906915 
    chicken
    (Gallus gallus)
    Aves LOC7696761 PR domain zinc finger protein 10-like 62.69(n)
    59.38(a)
      769676  XM_001232447.2  XP_001232448.2 
    zebrafish
    (Danio rerio)
    Actinopterygii plagl26
    pleiomorphic adenoma gene-like 2
    36(a)
    many ↔ many
    23(7665574-7668288) ENSDARG00000076657
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427266
    CG26786
    --
    20(a)
    14(a)
    many ↔ many
    many ↔ many
    3R(11173770-11176113)
    3R(3739579-3742272)


    ENSEMBL Gene Tree for PLAGL1 (if available)
    TreeFam Gene Tree for PLAGL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLAGL1 gene
    ZNF7682  PLAGL22  PLAG12  
    Selected SIMAP similar genes for PLAGL1 using alignment to 3 protein entries:     PLAL1_HUMAN (see all proteins) (see all similar genes):
    DKFZp781P1017    ZNF180    ZNF132    ZNF155    ZNF182    ZNF852
    ZNF585A    ZNF883    SALL1    ZNF808    SALL3    PRDM1
    ZFP2    ZNF19    ZNF282    ZNF391    ZNF543    ZNF567

    Find genes that share paralogs with PLAGL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLAGL1 (see all 2372)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340855261,2
    C--141829583(+) AAACC-/T/T   
      T
    /TTTT
    TTTTT
    8 -- int10--------
    rs22847141,2
    C,A,H--141830845(+) catgcA/Ggggta 8 -- int10--------
    rs781419681,2
    C--141879958(+) ATAAAA/TCTATT 8 -- int10--------
    rs1129370531,2
    C,F--141912106(+) GAAAGT/AAAGTT 2 -- int11Minor allele frequency- A:0.00CSA 1
    rs2002017311,2
    --141922511(+) TGAAC-/TATATGT 2 -- int10--------
    rs106431971,2
    C--141922512(+) GAACT-/AA    
       T
    /ATA
    ATGTT
    4 -- cds10--------
    rs601520241,2
    C--141947385(+) AAAAA-/A/A   
      A
    /AAAA
    CACAG
    2 -- int11NA 2
    rs65705931,2
    C,F,A,H--144259442(+) AATACG/CTTGAG 8 -- ds500123Minor allele frequency- C:0.22NA NS EA WA CSA 1353
    rs1826872441,2
    --144259452(+) GAAAAG/TCCCAA 8 -- ds50010--------
    rs94968241,2
    C,F,H--144259511(+) ACACCG/ATTGTA 8 -- ds50015Minor allele frequency- A:0.02NS EA WA 532

    HapMap Linkage Disequilibrium report for PLAGL1 (144261437 - 144385735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PLAGL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv268348CNV Insertion20981092
    nsv5517CNV Insertion18451855
    nsv510056CNV Loss20534489
    nsv5516CNV Loss18451855
    nsv830830CNV Gain17160897

    Human Gene Mutation Database (HGMD): PLAGL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLAGL1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLAGL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603044   
    OMIM disorders: 601410  
    9 diseases for PLAGL1:    
    About MalaCards
    adenoma    paternal uniparental disomy of chromosome 6    transient neonatal diabetes mellitus    neonatal diabetes mellitus
    diabetes mellitus, 6q24-related transient neonatal    intestinal atresia    riboflavin deficiency    extraskeletal myxoid chondrosarcoma
    diabetes mellitus

    3 diseases from the University of Copenhagen DISEASES database for PLAGL1:
    Neonatal diabetes mellitus     Pleomorphic adenoma     Beckwith-Wiedemann syndrome

    Find genes that share disorders with PLAGL1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PLAGL1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neonatal diabetes mellitus 94.4 9 11935319 (1), 17341487 (1), 12473647 (1), 15888726 (1) (see all 7)
    allelic imbalance 66.9 2 10435621 (1), 15581945 (1)
    adenoma pleomorphic 66.6 2 19155788 (1)
    pituitary tumors 59.1 6 16452215 (2), 11156367 (1), 16179495 (1), 19637311 (1)
    growth retardation 51.9 3 12473647 (1), 19155788 (1)
    hydatidiform mole 44.2 1 12471198 (1)
    tumors 29.2 53 15751035 (5), 19637311 (5), 10435621 (4), 15581945 (4) (see all 19)
    ovarian cancer 25.2 5 15581945 (3), 15751035 (2)
    cancer 22.8 10 17341487 (2), 12473647 (2), 15581945 (2), 20175198 (2) (see all 6)
    ovarian carcinoma 19.3 3 10757814 (1), 15581945 (1)

    GeneTests: PLAGL1
    GeneReviews: PLAGL1
    Genetic Association Database (GAD): PLAGL1
    Human Genome Epidemiology (HuGE) Navigator: PLAGL1 (3 documents)

    Export disorders for PLAGL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PLAGL1 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with PLAGL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcriptional activation capacity of the novel PLAG family of zinc finger proteins. (PubMed id 9722527)1, 2, 3, 9 Kas K.... Van de Ven W.J.M. (J. Biol. Chem. 1998)
    2. hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. (PubMed id 9671765)1, 2, 3 Varrault A.... Journot L. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. (PubMed id 11313869)1, 2, 9 Bilanges B.... Journot L. (Oncogene 2001)
    4. Study of the genetic variability of ZAC1 (PLAGL1) in French population-based samples. (PubMed id 19155788)1, 4, 9 Goumidi L....Meirhaeghe A. (J. Hypertens. 2009)
    5. Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. (PubMed id 16873690)1, 4 Gloyn A.L....Frayling T.M. (Diabetes 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors. (PubMed id 9150364)1, 2 Abdollahi A.... Hamilton T.C. (Oncogene 1997)
    8. LOT1 (PLAGL1/ZAC1), the candidate tumor suppressor gene at chromosome 6q24-25, is epigenetically regulated in cancer. (PubMed id 12473647)1, 9 Abdollahi A....Hamilton T.C. (J. Biol. Chem. 2003)
    9. Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1. (PubMed id 11360197)1, 9 Huang S.M....Stallcup M.R. (Oncogene 2001)
    10. Preferential loss of the nonimprinted allele for the ZAC1 tumor suppressor gene in human capillary hemangioblastoma. (PubMed id 17805016)1, 9 Lemeta S....Husgafvel-Pursiainen K. (J. Neuropathol. Exp. Neurol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5325 HGNC: 9046 AceView: PLAGL1 Ensembl:ENSG00000118495 euGenes: HUgn5325
    ECgene: PLAGL1 H-InvDB: PLAGL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PLAGL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PLAGL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PLAGL1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PLAGL1 gene:
    Search GeneIP for patents involving PLAGL1

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



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