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

PLAGL1 Gene

protein-coding   GIFtS: 61
GCID: GC06M144261

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

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 transient neonatal diabetes mellitus, and intestinal atresia. GO annotations related to this gene include DNA binding and zinc ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PLAGL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: PLAL1_HUMAN, Q9UM63 (See protein sequence)
Recommended Name: Zinc finger protein PLAGL1  
Size: 463 amino acids; 50819 Da
Subunit: Interacts with THRSP
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UM63

  • PLAGL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLAGL1 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001074420.1  NP_001074421.1  NP_001074422.1  NP_001074423.1  NP_001074424.1  NP_001074425.1  NP_002647.2  NP_006709.2  

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

    Human Recombinant Protein Products for PLAGL1: 
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    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for PLAGL1 

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

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

    PLAGL1 for ontologies           About GeneDecksing



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    (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 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


    PLAGL1 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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:0005515protein binding ----
    GO:0008270zinc ion binding ----
         
    PLAGL1 for ontologies           About GeneDecksing


    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  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  other 
     respiratory system  skeleton 

    PLAGL1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLAGL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidPLAGL1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLAGL1


    (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 PLAGL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/12 Interacting proteins for PLAGL1 (Q9UM632, 3 ENSP000003468104) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter IBA--
    GO:0006915apoptotic process TAS9671765
    GO:0007050cell cycle arrest TAS9184226
    GO:0010468regulation of gene expression ----
    GO:0030154cell differentiation IBA--

    PLAGL1 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

    PLAGL1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about PLAGL1 / PLAL1

    (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 PLAGL1 gene (8 alternative transcripts): 
    NM_001080951.1  NM_001080952.1  NM_001080953.1  NM_001080954.1  NM_001080955.1  NM_001080956.1  NM_002656.3  NM_006718.3  

    Unigene Cluster for PLAGL1:

    Pleiomorphic adenoma gene-like 1
    Hs.743225  [show with all ESTs]
    Unigene Representative Sequence: CR749329
    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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    8/40 QIAGEN miScript miRNA 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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLAGL1
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    Additional mRNA sequence: 

    AJ303119.1 AJ311395.1 AK091707.1 AK096331.1 AK314570.1 AK315184.1 BC074814.2 BC109085.2 
    BC109086.2 CR749329.1 EF100438.1 EF100439.1 EF100440.1 EF100441.1 EF100442.1 EF100443.1 
    EF100444.1 EF100445.1 EF100446.1 EF100447.1 EF100448.1 EF100449.1 EF100450.1 EF100451.1 
    EF100452.1 U81992.1 

    24 DOTS entries:

    DT.95270735  DT.100779109  DT.95270736  DT.102827312  DT.100709486  DT.121320266  DT.100779110  DT.86846282 
    DT.91736554  DT.121320356  DT.100762259  DT.100036382  DT.106612  DT.121320359  DT.121320242  DT.121320323 
    DT.121320344  DT.100672926  DT.121320245  DT.121320301  DT.121320325  DT.121320329  DT.40297334  DT.40129498 

    24/197 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

    5/29 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™, 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

    PLAGL1 expression in normal human tissues (normalized intensities)      PLAGL1 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Septum   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Umbilical cord blood-derived hematopoietic stem cells
             stem cells (umbilical cord cd34+)   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Human Trabecular Meshwork Cells (HTMC)   
             optic nerve head astrocytes   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
             stem cells (umbilical cord cd34+)   
     
     Gonad
             Primordial Germ Cells Allantois

    See PLAGL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLAGL1

    SOURCE GeneReport for Unigene cluster: Hs.743225
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PLAGL1 gene from 2/8 species (see all 8)    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 76.2(n)1
    69.23(a)1
      10 (4.72 cM)5
    226341  NM_009538.21  NP_033564.21 
     130906915 
    chicken
    (Gallus gallus)
    Aves PLAGL16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    3(51565686-51567499)


    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)
    About This Section
    Paralogs for PLAGL1 gene
    ZNF7682  PLAGL22  PLAG12  
    18/310 SIMAP similar genes for PLAGL1 using alignment to 4 protein entries:     PLAL1_HUMAN (see all proteins) (see all similar genes):
    DKFZp781P1017    PLAG1    PLAGL2    SALL1    SALL3    PRDM1
    ZNF282    ZNF76    IKZF4    ZBTB20    ZNF683    ZNF705B
    ZNF705F    A-328A3.4    ZNF143    ZNF542    ZNF852    ZNF808

    PLAGL1 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

    10/2372 SNPs in PLAGL1 are shown (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
    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: 603044   
    OMIM disorders: 601410  
    20/27 diseases for PLAGL1 (see all 27):    About MalaCards
    transient neonatal diabetes mellitus    intestinal atresia    adenoma    neonatal diabetes mellitus
    hemangioblastoma    extraskeletal myxoid chondrosarcoma    diabetes mellitus    myxoid chondrosarcoma
    down syndrome critical region    chondrosarcoma    ventricular septal defect    pleomorphic adenoma
    beckwith-wiedemann syndrome    pituitary tumors    acromegaly    down syndrome
    basal cell carcinoma    pheochromocytoma    pituitary adenoma    lung adenocarcinoma

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

    PLAGL1 for disorders           About GeneDecksing

    10/13 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)
    About This Section

    PubMed articles for PLAGL1 gene, integrated from 9 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. (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. (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. (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. (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. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2003)
    9. Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1. (PubMed id 11360197)1, 9 Huang S.M....Stallcup M.R. (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. (2007)

    (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: 5325 HGNC: 9046 AceView: PLAGL1 Ensembl:ENSG00000118495 euGenes: HUgn5325
    ECgene: PLAGL1 H-InvDB: PLAGL1

    (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 PLAGL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PLAGL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLAGL1

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