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HRG Gene

protein-coding   GIFtS: 61
GCID: GC03P186378

Histidine-Rich Glycoprotein

  See HRG-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
Histidine-Rich Glycoprotein1 2     Histidine-Proline Rich Glycoprotein1
Histidine-Proline-Rich Glycoprotein2 3     Thrombophilia Due To Elevated HRG1
HPRG2 3     HRGP2
THPH112 5     

External Ids:    HGNC: 51811   Entrez Gene: 32732   Ensembl: ENSG000001139057   OMIM: 1426405   UniProtKB: P041963   

Export aliases for HRG gene to outside databases

Previous GC identifers: GC03P183155 GC03P187640 GC03P187785 GC03P187704 GC03P187866 GC03P183793


(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 HRG Gene:
This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The
physiological function has not been determined but it is known that the protein binds heme, dyes and divalent
metal ions. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of
the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a
potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich
glycoprotein levels. (provided by RefSeq, Jul 2008)

GeneCards Summary for HRG Gene:
HRG (histidine-rich glycoprotein) is a protein-coding gene. Diseases associated with HRG include thrombophilia due to elevated hrg, and thrombophilia due to hrg deficiency. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and heparin binding.

UniProtKB/Swiss-Prot: HRG_HUMAN, P04196
Function: Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate,
thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a
zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells.
Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation.
Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen
clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of
necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This
process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG
subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their
clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface.
Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic
effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF)
signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between
PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine
phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the
regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor
immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis

Gene Wiki entry for HRG 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_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HRG gene promoter:
         TBP   p53   FOXF2   HSF1 (long)   NF-kappaB   Evi-1   AREB6   HSF1short   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHRG promoter sequence
   Search Chromatin IP Primers for HRG

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


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

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.3   HGNC cytogenetic band: 3q27

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P186378:  view genomic region     (about GC identifiers)

Start:
186,378,005 bp from pter      End:
186,396,029 bp from pter
Size:
18,025 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HRG_HUMAN, P04196 (See protein sequence)
Recommended Name: Histidine-rich glycoprotein precursor  
Size: 525 amino acids; 59578 Da
Cofactor: Zinc
Subunit: Interacts (via the HRR domain) with TPM1; the interaction appears to contribute to the antiangiogenic
properties of the HRR domain. Interacts with THBS2; the interaction blocks the antiangiogenic effect of THBS2
with CD36 (By similarity). Interacts with THBS1 (via the TSP type I repeats); the interaction blocks the
antiangiogenic effect of THBS1 with CD3. Interacts with PLG (via its Kringle domains); the interaction tethers
PLG to the cell surface and enhances its activation. Interacts with HPSE; the interaction is enhanced at acidic
pH, partially inhibits binding of HPSE to cell surface receptors and modulates its enzymatic activity. Interacts
(via the HRR domain) with TMP1; the interaction partially mediates the antiangiogenic properties of HRG.
Interacts with kappa and lambda light chains of IgG molecules. Interacts with ATP5A1; the interaction occurs on
the surface of T-cells and alters their cell morphology in concert with CONA. Binds IgG molecules containing
kappa and lambda light chains and inhibits the formation of insoluble immunoglobulin complexes. Interacts with
F12; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding to HRG,
inhibits factor XII autoactivation and contact-initiated coagulation
Secondary accessions: B9EK35 D3DNU7

Explore the universe of human proteins at neXtProt for HRG: NX_P04196

Explore proteomics data for HRG at MOPED

Post-translational modifications: 

  • Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not
    released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment.
    Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether
    plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which
    encompasses the HRR. Also cleaved in the C-terminal by plasmin1
  • N-glycosylated1
  • Glycosylation2 at Asn63, Asn125, Asn344, Asn345

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

    REFSEQ proteins: NP_000403.1  
    ENSEMBL proteins: 
     ENSP00000232003  
    Reactome Protein details: P04196

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    antibodies-online proteins for HRG (22 products) 

     
    antibodies-online peptides for HRG

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    antibodies-online antibodies for HRG (110 products) 

    HRG Assay Products:

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    antibodies-online kits for HRG (41 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000010 Prot_inh_cystat

    Graphical View of Domain Structure for InterPro Entry P04196

    ProtoNet protein and cluster: P04196

    1 Blocks protein domain: IPB000010 Cysteine protease inhibitor

    UniProtKB/Swiss-Prot: HRG_HUMAN, P04196
    Domain: The His/Pro-rich (HRR) region contains approximately 12 tandem internal repeats of the 5-residue
    G[H/P][H/P]PH consensus sequence. HRR binds heparan sulfate and possesses antiangiogenic, antibacterial and
    antifungal properties through binding Candida cells, and preferentially lysing the ergosterol-containing
    liposomes at low pH. The tandem repeats also bind divalent metal ions and heme
    Domain: The cystatin domains can also bind heparan sulfate. Binding is enhanced in the presence of zinc ions
    Similarity: Contains 2 cystatin domains


    Find genes that share domains with HRG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: HRG_HUMAN, P04196
    Function: Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate,
    thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a
    zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells.
    Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation.
    Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen
    clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of
    necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This
    process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG
    subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their
    clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface.
    Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic
    effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF)
    signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between
    PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine
    phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the
    regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor
    immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis

         Genatlas biochemistry entry for HRG:
    histidine-rich glycoprotein (plasma),binding plasminogen and heparin,cystatin (cysteine proteinase inhibitor)
    superfamily,interacting with plasma proteins involved in blood coagulation and fibronolysis

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
    GO:0005102receptor binding IDA16436387
    GO:0005515protein binding IPI11134179
    GO:0008201heparin binding IDA16436387
         
    Find genes that share ontologies with HRG           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HRG:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hrg):
     hematopoietic system  homeostasis/metabolism  immune system 

    Find genes that share phenotypes with HRG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hrgtm1Wja for HRG

       genOway: Develop your customized and physiologically relevant rodent model for HRG

    miRNA
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    Gene Editing
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    (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
    HRG_HUMAN, P04196: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005886plasma membrane TAS--
    GO:0031093platelet alpha granule lumen TAS--
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with HRG           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 HRG About    
    See pathways by source

    SuperPathContained pathways About
    1Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    3Dissolution of Fibrin Clot
    Dissolution of Fibrin Clot


    Find genes that share SuperPaths with HRG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for HRG
        Platelet degranulation
    Dissolution of Fibrin Clot


        Pathway & Disease-focused RT2 Profiler PCR Array including HRG: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HRG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for HRG (P041961, 3 ENSP000002320034) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1QBP027463, ENSP000003139674I2D: score=2 STRING: ENSP00000313967
    FGAP026713, ENSP000003063614I2D: score=2 STRING: ENSP00000306361
    C1QAP027453, ENSP000003637734I2D: score=1 STRING: ENSP00000363773
    FCGR1AP123143, ENSP000003581654I2D: score=2 STRING: ENSP00000358165
    PLGP007473, ENSP000003089384I2D: score=1 STRING: ENSP00000308938
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0002576platelet degranulation TAS--
    GO:0002839positive regulation of immune response to tumor cell IDA--
    GO:0006935chemotaxis IEA--
    GO:0007162negative regulation of cell adhesion IDA14744774

    Find genes that share ontologies with HRG           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 HRG

    1 HMDB Compound for HRG    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    Selected Novoseek inferred chemical compound relationships for HRG gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 78.1 25 19273244 (2), 17655823 (1), 11204593 (1), 2107324 (1) (see all 10)
    heparin 60 92 19786011 (8), 9153200 (6), 12024108 (6), 9488672 (5) (see all 24)
    fibrinogen 58.6 28 19878090 (5), 8562978 (2), 8987550 (2), 15748207 (1) (see all 13)
    heparan sulfate 54.5 23 16436387 (3), 19712047 (2), 19903770 (1), 16107330 (1) (see all 8)
    dermatan sulfate 52.2 12 1554154 (5), 7833476 (1), 9488672 (1)
    histidine 51.9 27 19903770 (3), 7873529 (3), 9488672 (3), 1561009 (2) (see all 12)
    epsilon aminocaproic acid 47.7 7 10946092 (4), 9102401 (1)
    hydroxyproline 38.1 6 9512767 (4)
    zinc 36.5 65 9153200 (7), 11372684 (6), 8690451 (6), 12024108 (5) (see all 11)
    lysine 33.6 12 9102401 (2), 7873529 (2), 15220341 (1), 9488672 (1)



    Find genes that share compounds with HRG           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 HRG gene: 
    NM_000412.3  

    Unigene Cluster for HRG:

    Histidine-rich glycoprotein
    Hs.1498  [show with all ESTs]
    Unigene Representative Sequence: CR749302
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468154 ENST00000232003(uc003fqq.3) ENST00000495413
    miRNA
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    Additional mRNA sequence: 

    AK313381.1 BC069574.1 BC150591.1 CR749302.1 

    8 DOTS entries:

    DT.455089  DT.92428066  DT.92428064  DT.100779786  DT.92428061  DT.95158654  DT.92428065  DT.95158651 

    Selected AceView cDNA sequences (see all 106):

    CB156959 NM_000412 T74779 AV651187 T55861 BI517904 CB153786 BC069574 
    N68297 T69219 T55912 C21004 CB115410 AI800281 CR749302 CB163837 
    AV651674 AV653225 R96691 T71884 BX955301 CB157380 H95367 N74605 

    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)
    About This Section

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


    HRG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
    HRG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HRG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1498

    UniProtKB/Swiss-Prot: HRG_HUMAN, P04196
    Tissue specificity: Expressed in macrophages and in malignant cells. Expressed by the liver and secreted in plasma
    (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including HRG: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HRG

    (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 chordates.

    Orthologs for HRG gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hrg5 histidine-rich glycoprotein   --   16 (13.79 cM) 22951072 
    chicken
    (Gallus gallus)
    Aves HRG6
    histidine-rich glycoprotein
    32(a)
    1 ↔ 1
    9(15630563-15640423)
    lizard
    (Anolis carolinensis)
    Reptilia HRG6
    histidine-rich glycoprotein
    30(a)
    1 ↔ 1
    GL343321.1(176818-194507)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HRG gene
    1 SIMAP similar gene for HRG using alignment to 1 protein entry:     HRG_HUMAN:
    DKFZp779H1622

    Find genes that share paralogs with HRG           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for HRG
    PGOHUM00000238292 PGOHUM00000238293


    (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 HRG (see all 440)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630004
    Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11)4--see VAR_0630002 G E mis40--------
    VAR_0630014
    Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11)4--see VAR_0630012 C R mis40--------
    rs2011511951,2
    Cuntested1186264352(+) ATTTCC/TAAGAC 2 Q * stg11Minor allele frequency- T:0.00EU 1269
    rs117119231,2
    C,A,H--183799440(+) CACTTG/TTTTTT 1 -- int1 trp34Minor allele frequency- T:0.00NA 10
    rs1142321691,2
    C--183799441(+) ACTTTG/TTTTTT 1 -- int10--------
    rs74288911,2
    C,A--183802767(+) GTGTGA/TGAGAG 1 -- int14Minor allele frequency- T:0.14NA CSA 7
    rs1462332801,2
    --186250888(+) ACATTA/CCCATT 1 -- us2k10--------
    rs1818058281,2
    --186250982(+) AAGGAA/GCTCAA 1 -- us2k10--------
    rs667071921,2
    C,F--186251104(+) TTTCTG/ATTGCA 1 -- us2k18Minor allele frequency- A:0.31WA NA CSA EA 367
    rs1136564531,2
    C,F--186251128(+) ATTGGG/ATATTT 1 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for HRG (186378005 - 186396029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for HRG:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508974CNV Insertion20534489
    nsv818196CNV Loss17921354
    esv29238CNV Loss19812545
    nsv436928CNV Loss16327808
    nsv437901CNV Loss16468122
    nsv516553CNV Loss19592680
    nsv878068CNV Gain21882294
    essv23735CNV CNV17122850
    essv25049CNV CNV17122850
    dgv1541e1CNV Complex17122850

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

    (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: 142640   
    OMIM disorders: 613116  
    UniProtKB/Swiss-Prot: HRG_HUMAN, P04196
  • Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]: A hemostatic disorder
    characterized by a tendency to thrombosis. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 8 diseases for HRG:    
    About MalaCards
    thrombophilia due to elevated hrg    thrombophilia due to hrg deficiency    thrombophilia    corneal neovascularization
    stereotypic movement disorder    protein c deficiency    hyperhomocysteinemia    myocardial infarction


    Find genes that share disorders with HRG           About GenesLikeMe

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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombophilia 51.4 6 8475479 (1), 9575605 (1), 10650845 (1), 14517486 (1) (see all 6)
    protein c deficiency 49.5 3 10650849 (1)
    corneal neovascularization 41.1 1 11134179 (1)
    thrombosis 24.6 13 7772521 (4), 8475479 (1), 9414276 (1)
    hyperhomocysteinemia 17 1 10650845 (1)
    thromboembolism 7.97 1 8478593 (1)
    venous thrombosis 6.49 3 8478593 (1), 10650849 (1)
    myocardial infarction 0 2 9493591 (1)
    inflammation 0 5 2127808 (3), 16767790 (1), 7504980 (1)
    acute myocardial infarction 0 2 1893056 (2)

    Genatlas disease: HRG
    thrombophilia,with low histidine-rich glycoprotein level

    Genetic Association Database (GAD): HRG
    Human Genome Epidemiology (HuGE) Navigator: HRG (106 documents)

    Export disorders for HRG 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 HRG gene, integrated from 10 sources (see all 175):
    (articles sorted by number of sources associating them with HRG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of histidine-rich glycoprotein (HRG) function via plasmin- mediated proteolytic cleavage. (PubMed id 19712047)1, 2, 9 Poon I.K.... Parish C.R. (Biochem. J. 2009)
    2. Differential binding of histidine-rich glycoprotein (HRG) to human IgG subclasses and IgG molecules containing kappa and lambda light chains. (PubMed id 10514432)1, 2, 9 Gorgani N.N.... Altin J.G. (J. Biol. Chem. 1999)
    3. HRG Tokushima: molecular and cellular characterization of histidine- rich glycoprotein (HRG) deficiency. (PubMed id 9414276)1, 2, 9 Shigekiyo T.... Koide T. (Blood 1998)
    4. A fragment of histidine-rich glycoprotein is a potent inhibitor of tumor vascularization. (PubMed id 14744774)1, 2, 9 Olsson A.K.... Claesson-Welsh L. (Cancer Res. 2004)
    5. Histidine-rich glycoprotein inhibits the antiangiogenic effect of thrombospondin-1. (PubMed id 11134179)1, 2, 9 Simantov R....Silverstein R.L. (J. Clin. Invest. 2001)
    6. Plasminogen is tethered with high affinity to the cell surface by the plasma protein, histidine-rich glycoprotein. (PubMed id 15220341)1, 2, 9 Jones A.L.... Parish C.R. (J. Biol. Chem. 2004)
    7. High affinity interaction between histidine-rich glycoprotein and the cell surface type ATP synthase on T-cells. (PubMed id 19285951)1, 2, 9 Ohta T.... Wakabayashi S. (Biochim. Biophys. Acta 2009)
    8. Activated platelets provide a functional microenvironment for the antiangiogenic fragment of histidine-rich glycoprotein. (PubMed id 19903770)1, 2, 9 Thulin A.... Olsson A.K. (Mol. Cancer Res. 2009)
    9. The anti-angiogenic His/Pro-rich fragment of histidine-rich glycoprotein binds to endothelial cell heparan sulfate in a Zn2+- dependent manner. (PubMed id 16436387)1, 2, 9 Vanwildemeersch M.... Spillmann D. (J. Biol. Chem. 2006)
    10. Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: genetic mapping and in situ localization of HRG to chromosome 3q28-q29. (PubMed id 8188234)1, 2, 9 Hennis B.C.... Kluft C. (Genomics 1994)

    (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: 3273 HGNC: 5181 AceView: HRG Ensembl:ENSG00000113905 euGenes: HUgn3273
    ECgene: HRG H-InvDB: HRG

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for HRG Pharmacogenomics, SNPs, Pathways

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

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



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