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

GP1BB Gene

protein-coding   GIFtS: 61
GCID: GC22P019710

Glycoprotein Ib (Platelet), Beta Polypeptide

  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
Glycoprotein Ib (Platelet), Beta Polypeptide1 2     GPIBB2
Antigen CD42b-Beta2 3     Nuclear Localization Signal Deleted In Velocardiofacial Syndrome2
GP-Ib Beta2 3     Platelet Glycoprotein Ib Beta Chain2
BDPLT12     GPIb-beta3
BS2     GPIbB3
CD42C2     CD42c Antigen3

External Ids:    HGNC: 44401   Entrez Gene: 28122   Ensembl: ENSG000002036187   OMIM: 1387205   UniProtKB: P132243   

Export aliases for GP1BB gene to outside databases

Previous GC identifers: GC22P016643 GC22P018085 GC22P003331


(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 GP1BB Gene:
Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD
alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von
Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides
the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in
transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit
have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The
206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and
megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has
been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb
beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was
shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5,
septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through
transcripts that use the consensus polyA signal of this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for GP1BB Gene: 
GP1BB (glycoprotein Ib (platelet), beta polypeptide) is a protein-coding gene. Diseases associated with GP1BB include bernard-soulier syndrome type b, and velocardiofacial syndrome, and among its related super-pathways are Formation of Fibrin Clot (Clotting Cascade) and Hemostasis. GO annotations related to this gene include transmembrane signaling receptor activity and protein binding. An important paralog of this gene is GP9.

UniProtKB/Swiss-Prot: GP1BB_HUMAN, P13224
Function: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by
binding to von Willebrand factor, which is already bound to the subendothelium

Gene Wiki entry for GP1BB 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_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GP1BB gene promoter:
         c-Fos   AP-1   JunB   Fra-1   FosB   GATA-2   CREB   JunD   deltaCREB   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for GP1BB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GP1BB


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21-q11.23

GP1BB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GP1BB gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019710:  view genomic region     (about GC identifiers)

Start:
19,710,468 bp from pter      End:
19,712,297 bp from pter
Size:
1,830 bases      Orientation:
plus 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: GP1BB_HUMAN, P13224 (See protein sequence)
Recommended Name: Platelet glycoprotein Ib beta chain precursor  
Size: 206 amino acids; 21718 Da
Subunit: Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via
a non covalent linkage
Subcellular location: Membrane; Single-pass type I membrane protein
Miscellaneous: Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the
platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein
2 PDB 3D structures from and Proteopedia for GP1BB:
3REZ (3D)        3RFE (3D)    
Secondary accessions: Q14422 Q8NG40
Alternative splicing: 2 isoforms:  P13224-1   P13224-2   

Explore the universe of human proteins at neXtProt for GP1BB: NX_P13224

Explore proteomics data for GP1BB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13224

  • GP1BB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GP1BB Protein Expression
    REFSEQ proteins: NP_000398.1  
    ENSEMBL proteins: 
     ENSP00000383382  
    Reactome Protein details: P13224
    Human Recombinant Protein Products for GP1BB: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane NAS3353370

    GP1BB 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: 
    CD: CD molecules

    2 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P13224

    ProtoNet protein and cluster: P13224

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB000483 Cysteine-rich flanking region
    IPB001611 Leucine-rich repeat signature


    UniProtKB/Swiss-Prot: GP1BB_HUMAN, P13224
    Similarity: Contains 1 LRR (leucine-rich) repeat
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    GP1BB 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: GP1BB_HUMAN, P13224
    Function: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by
    binding to von Willebrand factor, which is already bound to the subendothelium

         Genatlas biochemistry entry for GP1BB:
    platelet glycoprotein Ib,beta (22kDa),overlapping the 3'utr of PNUTL1 in the same orientation,linked to GP1BA
    through disulfide bonds in von Willebrand receptor

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity NAS3353370
    GO:0005515protein binding IPI11943773
         
    GP1BB for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gp1bb):
     hematopoietic system  homeostasis/metabolism 

    GP1BB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GP1BB: Gp1bbtm1Frla Gp1bbtm1Ware

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GP1BB 
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    (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 GP1BB About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Intrinsic Pathway0.59
    2Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    3Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Parkin-Ubiquitin Proteasomal System pathway0.89
    4Integrin alphaIIb beta3 signaling
    Platelet Aggregation (Plug Formation)0.73
    5Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for GP1BB
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway


    5/7        Reactome Pathways for GP1BB (see all 7)
        Hemostasis
    Platelet Adhesion to exposed collagen
    Formation of Fibrin Clot (Clotting Cascade)
    GP1b-IX-V activation signalling
    Intrinsic Pathway

    1 PharmGKB Pathway for GP1BB
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for GP1BB):
        ECM-receptor interaction
    Hematopoietic cell lineage


    GP1BB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GP1BB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for GP1BB (P132242, 3 ENSP000003833824) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GP1BAP073592, 3, ENSP000003293804MINT-6742751 MINT-6742907 I2D: score=1 STRING: ENSP00000329380
    GP9P147702, 3, ENSP000003039424MINT-6742751 MINT-6742907 I2D: score=1 STRING: ENSP00000303942
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    F8ENSP000003533934STRING: ENSP00000353393
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007166cell surface receptor signaling pathway NAS3353370
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--
    GO:0030168platelet activation TAS--

    GP1BB 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

    GP1BB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GP1BB

    3 Novoseek inferred chemical compound relationships for GP1BB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 80.3 1 12644781 (1)
    serine 8.97 1 8481514 (1)
    aspartate 0 1 8481514 (1)

    Search CenterWatch for drugs/clinical trials and news about GP1BB

    (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 GP1BB gene: 
    NM_000407.4  

    Unigene Cluster for GP1BB:

    Glycoprotein Ib (platelet), beta polypeptide
    Hs.283743  [show with all ESTs]
    Unigene Representative Sequence: BC020397
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000366425
    miRNA
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    Additional mRNA sequence: 

    BC020397.1 J03259.1 

    2 DOTS entries:

    DT.100885289  DT.97810866 

    24/453 AceView cDNA sequences (see all 453):

    CR621875 BG819412 J03259 AI089709 BM931912 BQ189005 BM725251 AL119626 
    CR610263 CA396800 AK056273 BE222989 BX371082 AI951935 CB153521 AI278428 
    U74628 T16198 NM_002688 CB152182 AL134626 U59632 BX407031 CR598470 

    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

    GP1BB expression in normal human tissues (normalized intensities)      GP1BB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCACAATG
    GP1BB Expression
    About this image


    GP1BB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
     
     Brain (Nervous System)
             brain/midbrain   

    See GP1BB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GP1BB

    SOURCE GeneReport for Unigene cluster: Hs.283743

    UniProtKB/Swiss-Prot: GP1BB_HUMAN, P13224
    Tissue specificity: Expressed in heart and brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GP1BB gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gp1bb1 , 5 glycoprotein Ib, beta polypeptide1, 5 83.75(n)1
    89.95(a)1
      16 (11.53 cM)5
    147241  NM_001001999.11  NP_001001999.11 
     186203195 
    chicken
    (Gallus gallus)
    Aves GP1BB1 glycoprotein Ib (platelet), beta polypeptide 47.96(n)
    42.78(a)
      416780  XM_003642172.1  XP_003642220.1 
    lizard
    (Anolis carolinensis)
    Reptilia GP1BB6
    Uncharacterized protein
    37(a)
    1 ↔ 1
    GL343282.1(1639515-1640069)
    zebrafish
    (Danio rerio)
    Actinopterygii BC053302.12   -- 72.25(n)    BC053302.1 


    ENSEMBL Gene Tree for GP1BB (if available)
    TreeFam Gene Tree for GP1BB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GP1BB gene
    GP92  
    1 SIMAP similar gene for GP1BB using alignment to 2 protein entries:     GP1BB_HUMAN (see all proteins):
    GP9

    GP1BB 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

    10/87 SNPs in GP1BB are shown (see all 87)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0250014
    Bernard-Soulier syndrome (BSS)4--see VAR_0250012 A P mis40--------
    VAR_0250004
    Bernard-Soulier syndrome (BSS)4--see VAR_0250002 Y C mis40--------
    rs2004163111,2
    --3329100(+) TAACCA/GTGCAA 1 -- us2k10--------
    rs1119523171,2
    C--3329207(+) CAGCGA/GGTCCG 1 -- us2k10--------
    rs1126632041,2
    C--3329246(+) GAGGGA/G/TGAGTA 1 -- us2k11CSA 1
    rs1400523901,2
    F--3329427(+) CACTAC/TGAGAA 1 -- us2k11Minor allele frequency- T:0.00NA 4374
    rs1997665381,2
    C--3329445(+) GCGCAC/GTGCAT 1 -- us2k10--------
    rs9090891,2
    H--3329506(+) CTGGCC/GCCGCC 1 -- us2k1 tfbs35Minor allele frequency- G:0.00MN NS EA 602
    rs3712896631,2
    C--3329618(+) GAACC-/AAGTCC 1 -- us2k10--------
    rs3692895931,2
    C--3330053(+) CAGACC/TGGACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GP1BB (19710468 - 19712297 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for GP1BB (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv828943CNV Loss20364138
    nsv914279CNV Loss21882294
    nsv517478CNV Loss19592680
    dgv4842n71CNV Loss21882294
    dgv4841n71CNV Loss21882294
    esv22571CNV Loss19812545
    nsv914288CNV Loss21882294
    nsv914283CNV Loss21882294
    nsv834129CNV Loss17160897


    Human Gene Mutation Database (HGMD): GP1BB

    Locus Specific Mutation Databases (LSDB): GP1BB
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138720   
    OMIM disorders: 231200  
    UniProtKB/Swiss-Prot: GP1BB_HUMAN, P13224
  • Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding
    time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 7 diseases for GP1BB:    About MalaCards
    bernard-soulier syndrome type b    velocardiofacial syndrome    bernard-soulier syndrome    macrothrombocytopenia
    purpura    thrombocytopenia    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for GP1BB:
    Bernard-Soulier syndrome

    GP1BB for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GP1BB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bernard-soulier syndrome 97.5 9 7949089 (1), 16268478 (1), 12945881 (1), 15550031 (1) (see all 8)
    platelet disorder 79.9 4 11754414 (1), 15550031 (1), 11816714 (1), 9116284 (1)
    coagulopathy 76.3 1 16268478 (1)
    thrombocytopenia 61.8 7 12644781 (4), 15213848 (1)
    purpura thrombocytopenic 38.5 2 10641444 (2)
    bleeding 21.2 2 15213848 (1)

    Genatlas disease: GP1BB
    Bernard-Soulier syndrome

    Genetic Association Database (GAD): GP1BB
    Human Genome Epidemiology (HuGE) Navigator: GP1BB (4 documents)

    Export disorders for GP1BB 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 GP1BB gene, integrated from 9 sources (see all 123):
    (articles sorted by number of sources associating them with GP1BB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. (PubMed id 8200976)1, 2, 9 Kelly M.D.... Konkle B.A. (1994)
    2. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. (PubMed id 8021244)1, 2, 9 Yagi M.... Roth G.J. (1994)
    3. Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. (PubMed id 9116284)1, 2, 9 Kunishima S....Naoe T. (1997)
    4. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PubMed id 15477207)1, 4, 9 Noris P....Balduini C.L. (2004)
    5. Quaternary organization of GPIb-IX complex and insigh ts into Bernard-Soulier syndrome revealed by the structures of GPIbI^ and a GPIb I^/GPIX chimera. (PubMed id 21908432)1, 2 McEwan P.A....Emsley J. (2011)
    6. Simultaneous genotyping of human platelet antigen-1 t o 17w by polymerase chain reaction sequence-based typing. (PubMed id 19570064)1, 4 Xu X....Yan L. (2009)
    7. Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene. (PubMed id 12648286)1, 4 Kunishima S....Ozawa K. (2003)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    9. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. (PubMed id 9022087)1, 2 Zieger B.... Ware J. (1997)
    10. Platelet glycoprotein Ib beta is phosphorylated on serine 166 by cyclic AMP-dependent protein kinase. (PubMed id 2504723)1, 2 Wardell M.R.... Fox J.E.B. (1989)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2812 HGNC: 4440 AceView: GP1BBandPNUTL1 Ensembl:ENSG00000203618 euGenes: HUgn2812
    ECgene: GP1BB Kegg: 2812 H-InvDB: GP1BB

    (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 GP1BB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GP1BB

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GP1BB gene:
    Search GeneIP for patents involving GP1BB

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



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