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

GPC3 Gene

protein-coding   GIFtS: 64
GCID: GC0XM132669

Glypican 3


(Previous symbol: SDYS)
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 simpson-golabi-behmel syndrome, and gpc3-related simpson-golabi-behmel syndrome type 1, and among its related super-pathways are Metabolism of carbohydrates and Heparan sulfate/heparin (HS-GAG) metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GPC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: GPC3_HUMAN, P51654 (See protein sequence)
Recommended Name: Glypican-3 precursor  
Size: 580 amino acids; 65563 Da
Subunit: Interacts with DPP4
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (By similarity)
Subcellular location: Secreted glypican-3: Secreted, extracellular space (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51654

  • GPC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPC3 Protein Expression
    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
    Human Recombinant Protein Products for GPC3: 
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    Sino Biological Recombinant Protein for GPC3
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    Cloud-Clone Corp. Proteins for GPC3 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    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--

    GPC3 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: 
    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


    GPC3 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17549790
    GO:0043395heparan sulfate proteoglycan binding IEA--
    GO:0060422peptidyl-dipeptidase inhibitor activity IDA17549790
         
    GPC3 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gpc3) (see all 17):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  pigmentation  renal/urinary system  reproductive system 

    GPC3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPC3 
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    SwitchGear 3'UTR luciferase reporter plasmidGPC3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPC3


    (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

    SuperPaths for GPC3 About   (see all 13)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    2Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40
    HS-GAG biosynthesis0.56
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    4A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    A tetrasaccharide linker sequence is required for GAG synthesis0.54
    5Canonical Wnt Pathway
    Non-Canonical Wnt Pathway0.53
    Canonical Wnt Pathway0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for GPC3
        Wnt Signaling Pathway
    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

    5/25        Reactome Pathways for GPC3 (see all 25)
        Diseases associated with visual transduction
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Visual phototransduction


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


    GPC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPC3

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

    5/46 Interacting proteins for GPC3 (P516543 ENSP000003598544) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    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): 5/35 biological process terms (GO ID links to tree view) (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--

    GPC3 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

    GPC3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about GPC3

    (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 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
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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 

    24/452 AceView cDNA sequences (see all 452):

    BQ643589 AU118820 BP372572 Z37987 AI076178 AW026754 AI351634 BP373540 
    AA328503 CR600770 BI792891 BP374031 AA340731 BP373250 AA330890 BM974113 
    AA458686 CR593041 AU117929 BE501151 NM_004484 H70743 AI140496 AU118103 

    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™, 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

    GPC3 expression in normal human tissues (normalized intensities)      GPC3 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Liver (Hepatobiliary System)    fully expand to see all 4 entries
             Fetal Hepatocytes Liver Lobule
             Human Hepatocyte (HH)   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             ES03(HES-3)
             ESI-049   
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem MEL2, NCr-fac Progenitor
             mesenchyme/trunk mesenchyme   

    See GPC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPC3

    SOURCE GeneReport for Unigene cluster: Hs.644108

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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPC3

    (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 animals.

    Orthologs for GPC3 gene from 5/11 species (see all 11)    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_001232891.2  XP_001232892.1 
    lizard
    (Anolis carolinensis)
    Reptilia GPC36
    Uncharacterized protein
    59(a)
    1 ↔ 1
    GL344442.1(16239-16952)
    zebrafish
    (Danio rerio)
    Actinopterygii AY346090.12   -- 75.79(n)   387365  AY346090.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dally6
    division abnormally delayed
    17(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)
    About This Section
    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

    GPC3 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

    10/5062 SNPs in GPC3 are shown (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--------
    VAR_0691394
    ----see VAR_0691392 V M mis40--------
    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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/54 diseases for GPC3 (see all 54):    About MalaCards
    simpson-golabi-behmel syndrome    gpc3-related simpson-golabi-behmel syndrome type 1    wilms tumor, somatic    simpson-golabi-behmel syndrome type 1
    sotos syndrome    extragonadal germ cell tumor    carotid artery dissection    horner's syndrome
    hydrops fetalis    malignant germ cell tumor    proteus syndrome    gigantism
    embryonal sarcoma    germ cell tumors    beckwith-wiedemann syndrome    complex regional pain syndrome
    hepatoblastoma    aniridia    wilms tumor    chromophobe renal cell carcinoma

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

    GPC3 for disorders           About GeneDecksing

    10/39 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)
    About This Section

    PubMed articles for GPC3 gene, integrated from 9 sources (see all 193):
    (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. (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. (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. (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. (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. (1997)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (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. (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. (2008)
    10. Expression pattern of glypican-3 (GPC3) during human embryonic and fetal development. (PubMed id 18785116)1, 9 Iglesias B.V....de Kier Joffe E.B. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2719 HGNC: 4451 AceView: GPC3 Ensembl:ENSG00000147257 euGenes: HUgn2719
    ECgene: GPC3 Kegg: 2719 H-InvDB: GPC3

    (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 GPC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPC3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPC3

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