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GPC3 Gene

protein-coding   GIFtS: 65
GCID: GC0XM132669

Glypican 3


(Previous symbol: SDYS)
  See GPC3-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
Glypican 31 2     OCI-52
SDYS1 2 5     SGB2
Glypican Proteoglycan 31 2     SGBS2
Intestinal Protein OCI-52 3     glypican-32
GTR2-22 3     Heparan Sulphate Proteoglycan2
MXR72 3     Secreted Glypican-32
SGBS12 5     OCI53
DGSX2     

External Ids:    HGNC: 44511   Entrez Gene: 27192   Ensembl: ENSG000001472577   OMIM: 3000375   UniProtKB: P516543   

Export aliases for GPC3 gene to outside databases

Previous GC identifers: GC0XM127315 GC0XM129515 GC0XM130614 GC0XM131375 GC0XM132395 GC0XM132497 GC0XM122070


(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 GPC3 Gene:
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a
variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family
(GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.
These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this
gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain
cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as
Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Sep 2009)

GeneCards Summary for GPC3 Gene:
GPC3 (glypican 3) is a protein-coding gene. Diseases associated with GPC3 include gpc3-related simpson-golabi-behmel syndrome type 1, and simpson-golabi-behmel syndrome type 1. GO annotations related to this gene include peptidyl-dipeptidase inhibitor activity and heparan sulfate proteoglycan binding. An important paralog of this gene is GPC4.

UniProtKB/Swiss-Prot: GPC3_HUMAN, P51654
Function: Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of
DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs.
May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May
regulate growth and tumor predisposition

Gene Wiki entry for GPC3 (Glypican 3) 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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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GPC3 gene promoter:
         c-Fos   Egr-3   AP-1   STAT5A   C/EBPalpha   SRY   POU2F1   POU2F1a   Sox9   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPC3 promoter sequence
   Search Chromatin IP Primers for GPC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GPC3


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

Entrez Gene cytogenetic band: Xq26.1   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26

GPC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPC3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM132669:  view genomic region     (about GC identifiers)

Start:
132,669,773 bp from pter      End:
133,119,922 bp from pter
Size:
450,150 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: GPC3_HUMAN, P51654 (See protein sequence)
Recommended Name: Glypican-3 precursor  
Size: 580 amino acids; 65563 Da
Subunit: Interacts with DPP4
Secondary accessions: C9JLE3 G3V1R0 Q2L880 Q2L882
Alternative splicing: 3 isoforms:  P51654-1   P51654-2   P51654-3   

Explore the universe of human proteins at neXtProt for GPC3: NX_P51654

Explore proteomics data for GPC3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn124, Asn241, Ser359, Asn418, Ser495, Ser509
  • Modification sites at PhosphoSitePlus

  • See GPC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001158089.1  NP_001158090.1  NP_001158091.1  NP_004475.1  

    ENSEMBL proteins: 
     ENSP00000359854   ENSP00000385307   ENSP00000377836   ENSP00000444222  
    Reactome Protein details: P51654

    GPC3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GPC3
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    Sino Biological Recombinant Protein for GPC3
    Sino Biological Cell Lysate for GPC3
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    Cloud-Clone Corp. Proteins for GPC3

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPC: Proteoglycans / Cell Surface : Glypicans

    3 InterPro protein domains:
     IPR019803 Glypican_CS
     IPR001863 Glypican
     IPR015501 Glypican-3

    Graphical View of Domain Structure for InterPro Entry P51654

    ProtoNet protein and cluster: P51654

    1 Blocks protein domain: IPB001863 Glypican

    UniProtKB/Swiss-Prot: GPC3_HUMAN, P51654
    Similarity: Belongs to the glypican family


    Find genes that share domains with GPC3           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: GPC3_HUMAN, P51654
    Function: Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of
    DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs.
    May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May
    regulate growth and tumor predisposition

         Genatlas biochemistry entry for GPC3:
    glypican 3,60kDa,putative extracellular proteoglycan,involved in growth control in embryonic mesodermal
    tissues,complexing with and putative modulator of IGF2,juxtaposed to GPC4,with tumor suppression activity

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17549790
    GO:0043395heparan sulfate proteoglycan binding IEA--
    GO:0060422peptidyl-dipeptidase inhibitor activity IDA17549790
         
    Find genes that share ontologies with GPC3           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gpc3) (see all 17):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  pigmentation  renal/urinary system  reproductive system 

    Find genes that share phenotypes with GPC3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GPC3: Gpc3tm1Arge Gpc3tm1Snd Gpc3tm1Fil

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GPC3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GPC3

    miRNA
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    miRTarBase miRNAs that target GPC3:
    hsa-mir-219a-5p (MIRT006231)

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    Selected qRT-PCR Assays for microRNAs that regulate GPC3 (see all 10):
    hsa-miR-140-3p hsa-miR-202 hsa-miR-1271 hsa-miR-765 hsa-miR-211 hsa-miR-182 hsa-miR-204 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidGPC3 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for GPC3
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    Addgene plasmids for GPC3 

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11020) for GPC3 


    (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
    GPC3_HUMAN, P51654: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (By similarity)
    GPC3_HUMAN, P51654: Secreted glypican-3: Secreted, extracellular space (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus4
    lysosome4
    vacuole4
    extracellular2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0005764lysosome ----
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with GPC3           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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    SuperPaths for GPC3 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    HS-GAG biosynthesis0.57
    Glypican pathway0.00
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    4Non-Canonical Wnt Pathway
    Non-Canonical Wnt Pathway0.53
    Canonical Wnt Pathway0.53
    5Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    A tetrasaccharide linker sequence is required for GAG synthesis0.51


    Find genes that share SuperPaths with GPC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for GPC3
        Wnt Signaling Pathways
    VEGF - VEGF R2 Signaling Pathways


    2 BioSystems Pathways for GPC3
        Glypican 3 network
    Glypican pathway

    2 Sino Biological Pathways for GPC3
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    4 Reactome Pathways for GPC3
        HS-GAG biosynthesis
    Retinoid metabolism and transport
    HS-GAG degradation
    A tetrasaccharide linker sequence is required for GAG synthesis


    1 Kegg Pathway  (Kegg details for GPC3):
        Proteoglycans in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GPC3
    Interactions:

        GeneGlobe Interaction Network for GPC3

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

    Selected Interacting proteins for GPC3 (P516543 ENSP000003598544) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGF2P090383, ENSP000002644984I2D: score=2 STRING: ENSP00000264498
    WNT3AP567043, ENSP000002845234I2D: score=1 STRING: ENSP00000284523
    WNT7BP567063, ENSP000003410324I2D: score=1 STRING: ENSP00000341032
    BCANENSP000003312104STRING: ENSP00000331210
    BGNENSP000003273364STRING: ENSP00000327336
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001822kidney development ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--

    Find genes that share ontologies with GPC3           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 GPC3

    5 Novoseek inferred chemical compound relationships for GPC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 48.7 3 18477453 (1), 10814714 (1), 15537637 (1)
    diethylnitrosamine 27.9 3 16698587 (2)
    5-aza-2'deoxycytidine 24.9 3 10029067 (1), 10656689 (1)
    oligonucleotide 0 1 12478660 (1)
    lipid 0 1 15620688 (1)



    Find genes that share compounds with GPC3           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 GPC3 gene (4 alternative transcripts): 
    NM_001164617.1  NM_001164618.1  NM_001164619.1  NM_004484.3  

    Unigene Cluster for GPC3:

    Glypican 3
    Hs.644108  [show with all ESTs]
    Unigene Representative Sequence: NM_001164617
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370818(uc004exe.2 uc011mvh.2 uc010nro.2) ENST00000406757
    ENST00000394299(uc010nrn.2 uc010nrp.2) ENST00000543339
    miRNA
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    hsa-miR-140-3p hsa-miR-202 hsa-miR-1271 hsa-miR-765 hsa-miR-211 hsa-miR-182 hsa-miR-204 hsa-miR-3121-3p
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    Additional mRNA sequence: 

    AK222761.1 AK222766.1 AK300168.1 AK310196.1 AK310689.1 BC035972.1 DQ349136.1 DQ349137.1 
    DQ349138.1 JQ943686.1 L47125.1 L47176.1 U50410.1 Z37987.1 

    15 DOTS entries:

    DT.452188  DT.100884054  DT.100884058  DT.121306095  DT.95311297  DT.100026089  DT.100697690  DT.91768760 
    DT.91768767  DT.95227507  DT.100884069  DT.119635  DT.95311282  DT.100884067  DT.91768761 

    Selected AceView cDNA sequences (see all 452):

    AI076178 AW026754 BU844616 BP374004 AV686384 BI793159 CR620091 AU131321 
    AL540926 AU119297 BM974181 CR611970 BX438697 W20499 AA448804 AI918685 
    BP373067 BQ647204 AA340735 AI123039 CD516764 AA971113 AA347122 AW629720 

    GeneLoc Exon Structure


    (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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    GPC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTCTTTG
    GPC3 Expression
    About this image


    GPC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Fetal Hepatocytes Liver Lobule
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
    GPC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644108

    UniProtKB/Swiss-Prot: GPC3_HUMAN, P51654
    Tissue specificity: Highly expressed in lung, liver and kidney

        Custom PCR Arrays for GPC3
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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 GPC3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpc31 , 5 glypican 31, 5 90.73(n)1
    94.13(a)1
      X (28.74 cM)5
    147341  NM_016697.31  NP_057906.21 
     522724265 
    chicken
    (Gallus gallus)
    Aves GPC31 glypican 3 69.84(n)
    68.66(a)
      770863  XM_001232891.3  XP_001232892.1 
    lizard
    (Anolis carolinensis)
    Reptilia GPC36
    glypican 3
    59(a)
    1 ↔ 1
    GL344442.1(16239-16952)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gpc31 glypican 3 63.69(n)
    59.72(a)
      100135027  XM_002932619.2  XP_002932665.2 
    zebrafish
    (Danio rerio)
    Actinopterygii AY346090.12   -- 75.79(n)   387365  AY346090.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dally6
    division abnormally delayed
    19(a)
    1 → many
    3L(8820605-8884292)


    ENSEMBL Gene Tree for GPC3 (if available)
    TreeFam Gene Tree for GPC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GPC3 gene
    GPC42  GPC62  GPC12  GPC22  GPC52  
    1 SIMAP similar gene for GPC3 using alignment to 5 protein entries:     GPC3_HUMAN (see all proteins):
    GPC5

    Find genes that share paralogs with GPC3           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)
    About This Section

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    Selected SNPs for GPC3 (see all 5062)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0213854
    Simpson-Golabi-Behmel syndrome 1 (SGBS1)4--see VAR_0213852 W R mis40--------
    rs1048948541,2
    Cpathogenic1132844872(-) AGTACA/TGGAGA 8 R W mis10--------
    rs1048948551,2
    Cpathogenic1132845163(-) GCCTCC/TGAGGA 8 R * stg10--------
    rs1903785351,2
    C--132626466(+) GGCAGA/CCCCTG 4 -- ds50010--------
    rs1485156521,2
    C--132626483(+) AGGCA-/ACACAGC 4 -- ds50010--------
    rs720605191,2
    C--132626484(+) GGCAA-/AC/CA 
            
    CAGCA
    4 -- ds50010--------
    rs1501708921,2
    --132626613(+) GGATTC/TCTATT 4 -- ds50010--------
    rs1829282291,2
    --132626715(+) CTCCAA/TCCCAA 4 -- ds50010--------
    rs1875613191,2
    --132626801(+) ACCCAA/GAAGGA 4 -- ds50010--------
    rs1386287901,2
    --132626993(+) GAGAAC/TGATAG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for GPC3 (132669773 - 132919773 bp, first 250kb of GPC3)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GPC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740486CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GPC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GPC3
    DNA2.0 Custom Variant and Variant Library Synthesis for GPC3

    (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: 300037   
    OMIM disorders: 312870  194070  
    UniProtKB/Swiss-Prot: GPC3_HUMAN, P51654
  • Simpson-Golabi-Behmel syndrome 1 (SGBS1) [MIM:312870]: A condition characterized by pre- and postnatal
    overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations.
    Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding
    jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for GPC3:    
    About MalaCards
    gpc3-related simpson-golabi-behmel syndrome type 1    simpson-golabi-behmel syndrome type 1    simpson-golabi-behmel syndrome    wilms tumor, somatic
    sotos syndrome    placental site trophoblastic tumor    proteus syndrome    carotid artery dissection
    embryonal sarcoma    extragonadal germ cell tumor    malignant germ cell tumor    hepatocellular carcinoma

    3 diseases from the University of Copenhagen DISEASES database for GPC3:
    Hepatocellular carcinoma     Liver cirrhosis     Cholangiocarcinoma

    Find genes that share disorders with GPC3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GPC3 gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    perlman syndrome 88.7 2 11477610 (1), 10814714 (1)
    embryonal tumor 77.1 4 11008203 (2), 7909248 (1), 16158429 (1)
    beckwith-wiedemann syndrome 73 5 12949968 (1), 11477610 (1), 10814714 (1)
    hepatocellular carcinoma 71.2 52 15920546 (5), 15623647 (3), 16024626 (2), 16772080 (2) (see all 29)
    gigantism 67.4 3 7909248 (1), 9339360 (1), 10814714 (1)
    sotos syndrome 65 1 11477610 (1)
    hepatoblastoma 64.2 19 17949790 (6), 11878776 (3), 11477610 (2), 15920546 (2) (see all 6)
    nipples, supernumerary 62.2 1 11477610 (1)
    wilms tumor 58.8 16 12949968 (5), 11878776 (3), 11008203 (2), 17350117 (1) (see all 6)
    adenoma hepatocellular 58.5 5 18976006 (2), 16949914 (1), 15920546 (1), 9371521 (1)

    GeneTests: GPC3
    GeneReviews: GPC3

    Export disorders for GPC3 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 GPC3 gene, integrated from 10 sources (see all 201):
    (articles sorted by number of sources associating them with GPC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. (PubMed id 8589713)1, 2, 3, 9 Pilia G.... Schlessinger D. (Nat. Genet. 1996)
    2. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss- of-function mutations in the GPC3 gene. (PubMed id 10814714)1, 2, 9 Veugelers M.... David G. (Hum. Mol. Genet. 2000)
    3. The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (PubMed id 17549790)1, 2, 9 Davoodi J.... MacKenzie A.E. (Proteomics 2007)
    4. GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. (PubMed id 9787072)1, 3, 9 Veugelers M....David G. (Genomics 1998)
    5. Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene. (PubMed id 9339360)1, 2, 9 Huber R.... Pilia G. (Genomics 1997)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization. (PubMed id 9021160)1, 2 Shen T....Testa J.R. (Mamm. Genome 1997)
    8. Cloning and characterization of human cDNAs encoding a protein with high homology to rat intestinal development protein OCI-5. (PubMed id 9133586)1, 2 Lage H. and Dietel M. (Gene 1997)
    9. Oncofetal protein glypican-3 distinguishes yolk sac tumor from clear cell carcinoma of the ovary. (PubMed id 18277882)1, 9 Esheba G.E....Longacre T.A. (Am. J. Surg. Pathol. 2008)
    10. Expression pattern of glypican-3 (GPC3) during human embryonic and fetal development. (PubMed id 18785116)1, 9 Iglesias B.V....de Kier JoffAc E.B. (Histol. Histopathol. 2008)

    (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: 2719 HGNC: 4451 AceView: GPC3 Ensembl:ENSG00000147257 euGenes: HUgn2719
    ECgene: GPC3 Kegg: 2719 H-InvDB: GPC3

    (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 GPC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPC3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GPC3[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 GPC3 gene:
    Search GeneIP for patents involving GPC3

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



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