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

GP1BA Gene

protein-coding   GIFtS: 65
GCID: GC17P004835

Glycoprotein Ib (Platelet), Alpha Polypeptide


(Previous symbol: GP1B)
  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), Alpha Polypeptide1 2     CD42b-alpha2
GP1B1 2     DBPLT32
Antigen CD42b-Alpha2 3     VWDP2
GPIbA2 3     Platelet Glycoprotein Ib Alpha Chain2
GP-Ib Alpha2 3     Platelet Membrane Glycoprotein 1b-Alpha Subunit2
BDPLT12     GPIb-alpha3
BDPLT32     CD42b Antigen3
BSS2     Glycoprotein Ibalpha3
CD42B2     

External Ids:    HGNC: 44391   Entrez Gene: 28112   Ensembl: ENSG000001852457   OMIM: 6066725   UniProtKB: P073593   

Export aliases for GP1BA gene to outside databases

Previous GC identifers: GC17P005255 GC17P005173 GC17P004780 GC17P005036 GC17P004776


(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 GP1BA Gene:
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and
a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor
(VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with
platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates
initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events
within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the
alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause
of Bernard-Soulier syndromes and platelet-type von Willebrand disease. (provided by RefSeq, Mar 2010)

GeneCards Summary for GP1BA Gene: 
GP1BA (glycoprotein Ib (platelet), alpha polypeptide) is a protein-coding gene. Diseases associated with GP1BA include bernard-soulier syndrome, and pseudo-von willebrand disease, and among its related super-pathways are Formation of Fibrin Clot (Clotting Cascade) and Hemostasis. GO annotations related to this gene include protein binding and thrombin receptor activity.

UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359
Function: GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by
binding to the A1 domain of vWF, which is already bound to the subendothelium

Gene Wiki entry for GP1BA 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_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GP1BA gene promoter:
         E2F-4   E2F-3a   AP-1   ATF-2   E2F-2   E2F   E2F-1   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGP1BA promoter sequence
   Search SABiosciences Chromatin IP Primers for GP1BA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GP1BA


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

GP1BA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GP1BA gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P004835:  view genomic region     (about GC identifiers)

Start:
4,835,592 bp from pter      End:
4,838,325 bp from pter
Size:
2,734 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: GP1BA_HUMAN, P07359 (See protein sequence)
Recommended Name: Platelet glycoprotein Ib alpha chain precursor  
Size: 626 amino acids; 68955 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. Interacts with FLNB
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
Miscellaneous: Binding sites for vWF and thrombin (the latter site with unknown function) are in the N-terminal
part of the molecule
6/13 PDB 3D structures from and Proteopedia for GP1BA (see all 13):
1GWB (3D)        1K13 (3D)        1M0Z (3D)        1M10 (3D)        1OOK (3D)        1P8V (3D)    
Secondary accessions: Q14441 Q16469 Q8N1F3 Q8NG39 Q9HDC7 Q9UEK1 Q9UQS4

Explore the universe of human proteins at neXtProt for GP1BA: NX_P07359

Explore proteomics data for GP1BA at MOPED 

Post-translational modifications:

  • UniProtKB: Glycocalicin, which is approximately coextensive with the extracellular part of the molecule, is cleaved off by
    calpain during platelet lysis
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07359

  • GP1BA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GP1BA Protein Expression
    REFSEQ proteins: NP_000164.5  
    ENSEMBL proteins: 
     ENSP00000329380  
    Reactome Protein details: P07359
    Human Recombinant Protein Products for GP1BA: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 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 TAS3353370
    GO:0016020membrane IDA15297306
    GO:0031362colocalizes with anchored to external side of plasma membrane IDA19443707

    GP1BA for ontologies           About GeneDecksing



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    Assay Products for GP1BA: 
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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

    4 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR001611 Leu-rich_rpt
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P07359

    ProtoNet protein and cluster: P07359

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


    UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359
    Similarity: Contains 7 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    GP1BA 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: GP1BA_HUMAN, P07359
    Function: GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by
    binding to the A1 domain of vWF, which is already bound to the subendothelium

         Genatlas biochemistry entry for GP1BA:
    platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB 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:0005515protein binding IPI12183630
    GO:0015057thrombin receptor activity TAS12855810
         
    GP1BA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GP1BA:
     Decreased number of cells in m 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gp1ba):
     cellular  hematopoietic system  homeostasis/metabolism 

    GP1BA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gp1batm1Ware for GP1BA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GP1BA 
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    miRNA
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    Inhib. RNA
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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 GP1BA About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.59
    2Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    3Integrin alphaIIb beta3 signaling
    Platelet Aggregation (Plug Formation)0.73
    4Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42
    5amb2 Integrin signaling
    amb2 Integrin signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GP1BA
        Blood Coagulation Signaling Pathways


    1 BioSystems Pathway for GP1BA
        amb2 Integrin signaling


    5/7        Reactome Pathways for GP1BA (see all 7)
        Hemostasis
    Platelet Adhesion to exposed collagen
    Formation of Fibrin Clot (Clotting Cascade)
    GP1b-IX-V activation signalling
    Intrinsic Pathway


    2         Kegg Pathways  (Kegg details for GP1BA):
        ECM-receptor interaction
    Hematopoietic cell lineage


    GP1BA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GP1BA

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

    5/31 Interacting proteins for GP1BA (P073591, 2, 3 ENSP000003293804) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VWFP042751, 2, 3, ENSP000002614054EBI-297082,EBI-981819 MINT-17868 MINT-24838 I2D: score=3 STRING: ENSP00000261405
    YWHABP319462, 3, ENSP000003001614MINT-8009042 I2D: score=1 STRING: ENSP00000300161
    YWHAEP622582, 3, ENSP000002643354MINT-8009049 I2D: score=1 STRING: ENSP00000264335
    YWHAGP619812, 3, ENSP000003063304MINT-8009063 I2D: score=1 STRING: ENSP00000306330
    YWHAZP631042, 3, ENSP000003095034MINT-8009035 MINT-8009582 I2D: score=1 STRING: ENSP00000309503
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0007155cell adhesion IDA9410473
    GO:0007166cell surface receptor signaling pathway TAS3353370
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--

    GP1BA 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

    GP1BA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for GP1BA

    1 DrugBank Compound for GP1BA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423

    10/40 Novoseek inferred chemical compound relationships for GP1BA gene (see all 40)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 88.9 13 15630508 (3), 2012763 (1), 15809291 (1), 18339097 (1) (see all 9)
    fibrinogen 62.3 29 11024046 (3), 10706934 (2), 10579727 (2), 10660541 (2) (see all 19)
    lamifiban 59.8 2 12719784 (1), 14961148 (1)
    adp 56 23 12008098 (2), 12871418 (2), 10213176 (1), 18499605 (1) (see all 14)
    hirudin 51 5 11024046 (1), 11307817 (1), 19591434 (1)
    convulxin 46.6 17 12881531 (11), 15320694 (1)
    desmopressin 33.5 1 10063996 (1)
    cytochalasin d 32.1 3 15946527 (1), 11071645 (1), 11323024 (1)
    kininogen 31.3 1 1318546 (1)
    abciximab 24.5 3 16261288 (1), 18084279 (1)

    1 PharmGKB related drug/compound annotation for GP1BA gene    About this table
    Drug/compound PharmGKB Annotation
    aspirinCA  

    Search CenterWatch for drugs/clinical trials and news about GP1BA

    (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 GP1BA gene: 
    NM_000173.5  

    Unigene Cluster for GP1BA:

    Glycoprotein Ib (platelet), alpha polypeptide
    Hs.1472  [show with all ESTs]
    Unigene Representative Sequence: NM_000173
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000329125(uc021tnz.1)
    miRNA
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    Additional mRNA sequence: 

    BC027955.1 J02940.1 KC120774.1 KC120775.1 KC120776.1 

    2 DOTS entries:

    DT.97818268  DT.103690 

    11 AceView cDNA sequences:

    BX280733 BE463855 BI767765 NM_000173 BM971661 BC027955 J02940 AW950469 
    AW950474 AA333774 BF360177 

    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

    GP1BA expression in normal human tissues (normalized intensities)      GP1BA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAACCACA
    GP1BA Expression
    About this image


    GP1BA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Platelets and megakaryocytes like cells ( Generation of hematopoietic progenitor...
             platelets   
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Spleen (Hematopoietic System)
             spleen ; cells in red pulp   
     
     Liver (Hepatobiliary System)

    See GP1BA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GP1BA

    SOURCE GeneReport for Unigene cluster: Hs.1472
        SABiosciences Custom PCR Arrays for GP1BA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GP1BA

    (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 GP1BA gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gp1ba1 , 5 glycoprotein 1b, alpha polypeptide1, 5 69.77(n)1
    61.4(a)1
      11 (43.20 cM)5
    147231  NM_010326.21  NP_034456.21 
     706391445 
    chicken
    (Gallus gallus)
    Aves LOC1008573331 platelet glycoprotein Ib alpha chain-like 52.32(n)
    39.66(a)
      100857333  XM_003642839.1  XP_003642887.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU896563.26
    Uncharacterized protein
    13(a)
    1 ↔ 1
    23(44646885-44650900)


    ENSEMBL Gene Tree for GP1BA (if available)
    TreeFam Gene Tree for GP1BA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359
    Polymorphism: Position 161 is associated with platelet-specific alloantigen Siba. Siba(-) has Thr-161 and Siba(+)
    has Met-161. Siba is involved in neonatal alloimmune thrombocytopenia (NATP)
    Polymorphism: Polymorphisms arise from a variable number of tandem 13-amino acid repeats of
    S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain. Allele D (shown here)
    contains one repeat starting at position 415, allele C contains two repeats, allele B contains three repeats and
    allele A contains four repeats. Allele B is associated with susceptibility to nonarteritic anterior ischemic
    optic neuropathy


    10/187 SNPs in GP1BA are shown (see all 187)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0052604
    Bernard-Soulier syndrome (BSS)4--see VAR_0052602 C S mis40--------
    VAR_0142074
    Bernard-Soulier syndrome (BSS)4--see VAR_0142072 L P mis40--------
    VAR_0196574
    Pseudo-von Willebrand disease (VWDP)4--see VAR_0196572 G S mis40--------
    VAR_0142064
    Bernard-Soulier syndrome (BSS)4--see VAR_0142062 L F mis40--------
    VAR_0052624
    Pseudo-von Willebrand disease (VWDP)4--see VAR_0052622 M V mis40--------
    VAR_0052614
    Pseudo-von Willebrand disease (VWDP)4--see VAR_0052612 G V mis40--------
    VAR_0052584
    Bernard-Soulier syndrome (BSS)4--see VAR_0052582 A V mis40--------
    VAR_0052564
    Bernard-Soulier syndrome (BSS)4--see VAR_0052562 C R mis40--------
    rs2818602611,2
    Cuntested14823542(+) CTGCCC/GCCAGG 2 P syn10--------
    rs1930527081,2
    --4820856(+) TCCTTA/GGGAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GP1BA (4835592 - 4838325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GP1BA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715560CNV Deletion23290073
    nsv907621CNV Loss21882294
    nsv907620CNV Loss21882294
    nsv833347CNV Loss17160897
    nsv833350CNV Loss17160897
    nsv819218CNV Loss19587683
    nsv833349CNV Loss17160897
    nsv907619CNV Loss21882294


    Human Gene Mutation Database (HGMD): GP1BA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GP1BA
    DNA2.0 Custom Variant and Variant Library Synthesis for GP1BA

    (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: 606672   
    OMIM disorders: 231200  177820  258660  153670  
    UniProtKB/Swiss-Prot: GP1BA_HUMAN, P07359
  • Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An ocular disease due to ischemic
    injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of
    a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some
    recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or
    non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an
    ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further
    neuronal damage. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry
  • 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
  • Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]: A coagulation disorder
    characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume.
    Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding,
    menorrhagia, easy bruising, or prolonged bleeding after dental surgery. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A bleeding disorder characterized by abnormally
    enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic
    function is impaired due to the removal of VWF multimers from the circulation. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/67 diseases for GP1BA (see all 67):    About MalaCards
    bernard-soulier syndrome    pseudo-von willebrand disease    nonarteritic anterior ischemic optic neuropathy    ischemic optic neuropathy
    fetal and neonatal alloimmune thrombocytopenia    bernard-soulier syndrome, benign autosomal dominant    bernard-soulier syndrome type a    von willebrand's disease
    type 2b von willebrand disease    splenic sequestration    thrombasthenia    glanzmann's thrombasthenia
    sickle cell anemia    thrombosis    thrombocytosis    heparin-induced thrombocytopenia
    macrothrombocytopenia    coronary thrombosis    acute chest syndrome    essential thrombocythemia

    3 diseases from the University of Copenhagen DISEASES database for GP1BA:
    Bernard-Soulier syndrome     Thrombocytopenia     Von Willebrand's disease

    GP1BA for disorders           About GeneDecksing

    10/35 Novoseek inferred disease relationships for GP1BA gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bernard-soulier syndrome 96.4 30 11776304 (2), 19448529 (2), 18791947 (2), 7949089 (1) (see all 24)
    von willebrand disease, platelet-type 94.9 17 15705799 (2), 8950788 (1), 19951970 (1), 10713059 (1) (see all 16)
    platelet disorder 76.5 3 15550031 (1), 19067792 (1)
    coagulopathy 73.6 9 12529755 (1), 15705799 (1), 15978109 (1), 19951970 (1) (see all 8)
    thrombocytopenia 69.2 23 8249898 (2), 8698134 (2), 9657431 (2), 10642807 (1) (see all 15)
    von willebrand disease 68.8 4 18805962 (1), 10063996 (1), 19085651 (1), 15039442 (1)
    bleeding tendency 64.3 1 10235425 (1)
    abnormal platelets 63.3 1 9226170 (1)
    glanzmann thrombasthenia 57 1 12871468 (1)
    macrocytosis 53.5 2 19067792 (1)

    Genatlas disease: GP1BA
    Bernard-Soulier syndrome;giant platelet syndrome,including Bolzano type,associated in some cases with GP9 and GP5
    deficiencies

    Genetic Association Database (GAD): GP1BA
    Human Genome Epidemiology (HuGE) Navigator: GP1BA (87 documents)

    Export disorders for GP1BA 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 GP1BA gene, integrated from 9 sources (see all 543):
    (articles sorted by number of sources associating them with GP1BA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. (PubMed id 7819107)1, 2, 4, 9 Simsek S.... Gallardo D. (1994)
    2. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. (PubMed id 8384898)1, 2, 4, 9 Russell S.D. and Roth G.J. (1993)
    3. Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. (PubMed id 14639140)1, 4, 9 Donahue B.S....George A.L. (2003)
    4. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). (PubMed id 7873390)1, 2, 9 de la Salle C.... Cazenave J.-P. (1995)
    5. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. (PubMed id 1730088)1, 2, 9 Miller J.L.... Cunningham D. (1992)
    6. The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145. (PubMed id 7632942)1, 2, 9 Ishida F....Furuta S. (1995)
    7. Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. (PubMed id 14521605)1, 2, 9 Matsubara Y.... Ikeda Y. (2003)
    8. Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha. (PubMed id 11858495)1, 2, 9 Whisstock J.C.... Berndt M.C. (2002)
    9. Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. (PubMed id 11776304)1, 4, 9 Gonzalez-Manchon C....Parrilla R. (2001)
    10. Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. (PubMed id 10089893)1, 2, 9 Koskela S.... Kekomaki R. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2811 HGNC: 4439 AceView: GP1BA Ensembl:ENSG00000185245 euGenes: HUgn2811
    ECgene: GP1BA Kegg: 2811 H-InvDB: GP1BA

    (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 GP1BA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GP1BA
    SeattleSNPshttp://pga.gs.washington.edu/data/gp1ba/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GP1BA gene:
    Search GeneIP for patents involving GP1BA

    GeneCards and IP:
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