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 ... See more...

Aliases for GP1BA Gene

Aliases for GP1BA Gene

  • Glycoprotein Ib Platelet Subunit Alpha 2 3 5
  • Platelet Glycoprotein Ib Alpha Chain 2 3 4
  • Glycoprotein Ib (Platelet), Alpha Polypeptide 2 3
  • Antigen CD42b-Alpha 3 4
  • GP-Ib Alpha 3 4
  • GPIbalpha 2 3
  • GPIbA 3 4
  • Platelet Membrane Glycoprotein 1b-Alpha Subunit 3
  • Mutant Platelet Membrane Glycoprotein Ib-Alpha 3
  • Platelet Membrane Glycoprotein Ib-Alpha 3
  • Glycoprotein Ib Platelet Alpha Subunit 3
  • Glycoprotein Ibalpha 4
  • CD42b Antigen 4
  • CD42b-Alpha 3
  • GPIb-Alpha 4
  • BDPLT1 3
  • BDPLT3 3
  • DBPLT3 3
  • CD42B 3
  • GP1BA 5
  • CD42b 2
  • GP1B 3
  • VWDP 3
  • BSS 3

External Ids for GP1BA Gene

Previous HGNC Symbols for GP1BA Gene

  • GP1B

Previous GeneCards Identifiers for GP1BA Gene

  • GC17P005255
  • GC17P005173
  • GC17P004780
  • GC17P005036
  • GC17P004776
  • GC17P004835

Summaries for GP1BA Gene

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. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]

GeneCards Summary for GP1BA Gene

GP1BA (Glycoprotein Ib Platelet Subunit Alpha) is a Protein Coding gene. Diseases associated with GP1BA include Pseudo-Von Willebrand Disease and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and amb2 Integrin signaling. Gene Ontology (GO) annotations related to this gene include thrombin-activated receptor activity. An important paralog of this gene is ENSG00000126500.

UniProtKB/Swiss-Prot Summary for GP1BA Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GP1BA Gene

Genomics for GP1BA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GP1BA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J004932 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.7 0.0 -40 0.3 RELA EED RUNX3 GATAD2B IKZF1 EBF1 YY1 SPI1 GP1BA lnc-SLC25A11-1 piR-57460-272 CHRNE lnc-CHRNE-3 C17orf107
GH17J004898 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 11.2 -31.0 -30964 6 CREB1 CTCF ATF7 PRDM10 ZNF629 TARDBP ZHX2 MTA2 ZNF143 ZSCAN4 CHRNE C17orf107 GP1BA ENSG00000262165 ZFP3 ZNF232-AS1 lnc-CHRNE-3 lnc-SLC25A11-1
GH17J004853 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 6.9 -78.4 -78433 2.9 PRDM10 PRDM1 ZIC2 EED ZBTB20 RUNX3 CBFB NFIC ZFHX2 POLR2A CHRNE MINK1 PLD2 ZMYND15 CXCL16 RNF167 SLC25A11 ENO3 PFN1 CAMTA2
GH17J004978 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 7.7 +48.6 48624 5.8 CTCF PRDM1 REST RAD21 TRIM22 CEBPB POLR2A ZNF524 RUNX3 ZNF444 lnc-SPAG7-2 CHRNE CAMTA2 SPAG7 ENO3 GP1BA KIF1C lnc-INCA1-1
GH17J005044 Enhancer 1 FANTOM5 Ensembl ENCODE 7.7 +115.6 115623 7.8 REST ZNF184 RUNX3 FOXA2 ESRRA NFIC BCOR BATF NFIB NFIL3 SPAG7 CAMTA2 ENO3 CHRNE KIF1C ZFP3 ENSG00000234203 INCA1 PFN1 ZNF232-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP1BA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GP1BA

Top Transcription factor binding sites by QIAGEN in the GP1BA gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • NF-kappaB1

Genomic Locations for GP1BA Gene

Genomic Locations for GP1BA Gene
chr17:4,932,277-4,935,023
(GRCh38/hg38)
Size:
2,747 bases
Orientation:
Plus strand
chr17:4,835,592-4,838,325
(GRCh37/hg19)
Size:
2,734 bases
Orientation:
Plus strand

Genomic View for GP1BA Gene

Genes around GP1BA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP1BA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP1BA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP1BA Gene

Proteins for GP1BA Gene

  • Protein details for GP1BA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07359-GP1BA_HUMAN
    Recommended name:
    Platelet glycoprotein Ib alpha chain
    Protein Accession:
    P07359
    Secondary Accessions:
    • E7ES66
    • Q14441
    • Q16469
    • Q8N1F3
    • Q8NG39
    • Q9HDC7
    • Q9UEK1
    • Q9UQS4

    Protein attributes for GP1BA Gene

    Size:
    652 amino acids
    Molecular mass:
    71540 Da
    Quaternary structure:
    • 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 (PubMed:17008541, PubMed:2070794). Interacts with FLNB (PubMed:9651345). Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450).
    • (Microbial infection) Interacts with Staphylococcus aureus protein SSL5.
    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.

    Three dimensional structures from OCA and Proteopedia for GP1BA Gene

neXtProt entry for GP1BA Gene

Post-translational modifications for GP1BA Gene

  • Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein.
  • Glycosylation at Asn37, Asn175, Thr308, and Asn362
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GP1BA_HUMAN (176)

Other Protein References for GP1BA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GP1BA Gene

Domains & Families for GP1BA Gene

Gene Families for GP1BA Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GP1BA Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GP1BA Gene

GenScript: Design optimal peptide antigens:
  • Platelet glycoprotein Ib alpha polypeptide (A5CKE2_HUMAN)
  • Platelet glycoprotein Ib alpha (E0D851_HUMAN)
  • Platelet glycoprotein Ib alpha polypeptide type 2 (E0D852_HUMAN)
  • Platelet glycoprotein Ib alpha polypeptide type 3 (E0D853_HUMAN)
  • Platelet glycoprotein Ib alpha polypeptide type 4 (E0D854_HUMAN)
genes like me logo Genes that share domains with GP1BA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GP1BA Gene

Function for GP1BA Gene

Molecular function for GP1BA Gene

UniProtKB/Swiss-Prot 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:
platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB through disulfide bonds in von Willebrand receptor

Phenotypes From GWAS Catalog for GP1BA Gene

Gene Ontology (GO) - Molecular Function for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 1730602
GO:0015057 thrombin-activated receptor activity TAS 12855810
genes like me logo Genes that share ontologies with GP1BA: view
genes like me logo Genes that share phenotypes with GP1BA: view

Human Phenotype Ontology for GP1BA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP1BA Gene

MGI Knock Outs for GP1BA:

Animal Model Products

CRISPR Products

miRNA for GP1BA Gene

miRTarBase miRNAs that target GP1BA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GP1BA Gene

Localization for GP1BA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP1BA Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GP1BA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
cytosol 3
mitochondrion 2
nucleus 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 3353370
GO:0009986 cell surface HDA 23382103
GO:0016020 membrane IEA,IDA 15297306
genes like me logo Genes that share ontologies with GP1BA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GP1BA Gene

Pathways & Interactions for GP1BA Gene

genes like me logo Genes that share pathways with GP1BA: view

SIGNOR curated interactions for GP1BA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GP1BA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0007155 cell adhesion IDA 9410473
GO:0007166 cell surface receptor signaling pathway TAS 3353370
GO:0007596 blood coagulation IMP,TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
genes like me logo Genes that share ontologies with GP1BA: view

Drugs & Compounds for GP1BA Gene

(30) Drugs for GP1BA Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved, Vet_approved Pharma Channel blocker 1512
Dexibuprofen Approved, Investigational Pharma Target 0
Ibuprofen Approved Pharma Channel blocker, Inhibitor, Inhibition, Target, inducer 716
Egaptivon pegol Investigational Pharma Target 0
liposomal prostaglandin E1 Investigational Pharma Target 0

(14) Additional Compounds for GP1BA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP1BA: view

Transcripts for GP1BA Gene

mRNA/cDNA for GP1BA Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA

Alternative Splicing Database (ASD) splice patterns (SP) for GP1BA Gene

No ASD Table

Relevant External Links for GP1BA Gene

GeneLoc Exon Structure for
GP1BA

Expression for GP1BA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GP1BA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GP1BA Gene

This gene is overexpressed in Whole Blood (x7.7).

Protein differential expression in normal tissues from HIPED for GP1BA Gene

This gene is overexpressed in Platelet (24.0), Serum (19.0), Monocytes (14.6), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GP1BA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GP1BA

SOURCE GeneReport for Unigene cluster for GP1BA Gene:

Hs.1472

Evidence on tissue expression from TISSUES for GP1BA Gene

  • Blood(4.7)
  • Heart(4.6)
  • Lung(4.3)
  • Bone marrow(2.7)
  • Spleen(2.7)
  • Liver(2.3)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GP1BA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • reproductive
Regions:
Head and neck:
  • face
  • head
  • mouth
  • nose
Abdomen:
  • spleen
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with GP1BA: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GP1BA Gene

Orthologs for GP1BA Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP1BA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GP1BA 30 31
  • 98.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gp1ba 30 17 31
  • 72.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gp1ba 30
  • 67.84 (n)
Cow
(Bos Taurus)
Mammalia GP1BA 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GP1BA 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 36 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii CU896563.2 31
  • 17 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4339 31
  • 17 (a)
OneToOne
Species where no ortholog for GP1BA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GP1BA Gene

ENSEMBL:
Gene Tree for GP1BA (if available)
TreeFam:
Gene Tree for GP1BA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GP1BA: view image

Paralogs for GP1BA Gene

genes like me logo Genes that share paralogs with GP1BA: view

Variants for GP1BA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BA Gene

GP1BA_HUMAN-P07359
Position 161 is associated with platelet-specific alloantigen Siba (PubMed:1586750). Siba(-) has Thr-161 and Siba(+) has Met-161 (PubMed:1586750). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750, PubMed:7632942).
GP1BA_HUMAN-P07359
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 (PubMed:1577776, PubMed:7632942). Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats (PubMed:1577776). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GP1BA Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
626958 Uncertain Significance: Thrombocytopenia 4,932,948(+) T/C MISSENSE_VARIANT
627001 Pathogenic: Macrothrombocytopenia 4,932,751(+) AAC/A FRAMESHIFT_VARIANT
627016 Likely Pathogenic: Macrothrombocytopenia 4,932,775(+) C/A MISSENSE_VARIANT
627031 Uncertain Significance: Macrothrombocytopenia 4,932,804(+) T/G MISSENSE_VARIANT
627062 Likely Pathogenic: Thrombocytopenia 4,933,011(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GP1BA Gene

Structural Variations from Database of Genomic Variants (DGV) for GP1BA Gene

Variant ID Type Subtype PubMed ID
dgv3088n100 CNV gain 25217958
esv2715560 CNV deletion 23290073
esv3572365 CNV gain 25503493
nsv1149679 CNV deletion 26484159
nsv574273 CNV gain 21841781
nsv574275 CNV gain 21841781
nsv819218 CNV loss 19587683
nsv833347 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

Variation tolerance for GP1BA Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GP1BA Gene

Human Gene Mutation Database (HGMD)
GP1BA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GP1BA

SNP Genotyping and Copy Number Assay Products

Disorders for GP1BA Gene

MalaCards: The human disease database

(49) MalaCards diseases for GP1BA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GP1BA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GP1BA_HUMAN
  • 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. {ECO:0000269 PubMed:14711733}. 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. {ECO:0000269 PubMed:10089893, ECO:0000269 PubMed:1730088, ECO:0000269 PubMed:7690774, ECO:0000269 PubMed:7819107, ECO:0000269 PubMed:7873390, ECO:0000269 PubMed:9639514}. 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. {ECO:0000269 PubMed:11222377}. 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. {ECO:0000269 PubMed:14521605, ECO:0000269 PubMed:2052556, ECO:0000269 PubMed:8384898, ECO:0000269 PubMed:8486780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GP1BA Gene

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

Additional Disease Information for GP1BA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GP1BA: view

Publications for GP1BA Gene

  1. Genetics of platelet reactivity in normal, healthy individuals. (PMID: 19740098) Kunicki TJ … Nugent DJ (Journal of thrombosis and haemostasis : JTH 2009) 3 23 41
  2. Variable number of tandem repeats polymorphism of platelet glycoprotein Ib alpha in Chinese people and CC genotype with aspirin sensitivity in patients with cerebral infarction. (PMID: 19250145) Jin YY … Xin XM (Journal of clinical pharmacy and therapeutics 2009) 3 23 41
  3. Platelet GPIbalpha, GPIV and vWF polymorphisms and fatal pre-hospital MI among middle-aged men. (PMID: 17619827) Pellikka M … Mikkelsson J (Journal of thrombosis and thrombolysis 2008) 3 23 41
  4. Platelet reactivity and genetics down on the pharm. (PMID: 18528467) Bray PF (Transactions of the American Clinical and Climatological Association 2006) 3 23 41
  5. Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel. (PMID: 15978109) Di Paola J … Murray JC (Journal of thrombosis and haemostasis : JTH 2005) 3 23 41

Products for GP1BA Gene

Sources for GP1BA Gene