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Aliases for GP1BB Gene

Aliases for GP1BB Gene

  • Glycoprotein Ib Platelet Subunit Beta 2 3
  • Glycoprotein Ib (Platelet), Beta Polypeptide 2 3
  • Glycoprotein Ib Platelet Beta Subunit 3 5
  • Platelet Glycoprotein Ib Beta Chain 2 3
  • Antigen CD42b-Beta 3 4
  • GP-Ib Beta 3 4
  • Nuclear Localization Signal Deleted In Velocardiofacial Syndrome 3
  • Truncated Platelet Membrane Glycoprotein Ib Beta 3
  • Platelet Membrane Glycoprotein Ib Beta 3
  • CD42c Antigen 4
  • GPIb-Beta 4
  • GPIbbeta 3
  • BDPLT1 3
  • CD42C 3
  • GPIBB 3
  • GPIbB 4
  • BS 3

External Ids for GP1BB Gene

Previous GeneCards Identifiers for GP1BB Gene

  • GC22P016643
  • GC22P018085
  • GC22P003331

Summaries for GP1BB Gene

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 Subunit Beta) is a Protein Coding gene. Diseases associated with GP1BB include Bernard-Soulier Syndrome and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are Integrin alphaIIb beta3 signaling and GP1b-IX-V activation signalling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is GP9.

UniProtKB/Swiss-Prot for GP1BB Gene

  • 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

Additional gene information for GP1BB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP1BB Gene

Genomics for GP1BB Gene

GeneHancer (GH) Regulatory Elements for GP1BB Gene

Promoters and enhancers for GP1BB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J019722 Promoter/Enhancer 1.7 VISTA EPDnew ENCODE 650.7 +0.5 461 1.9 HDGF PKNOX1 SMAD1 ARNT POLR2B E2F8 ZNF143 ZNF263 SP5 REST GP1BB DGCR8 TRMT2A LINC01311 LOC100420177 ZDHHC8 MED15 RANBP1 ESS2 E2F6P1
GH22J019721 Promoter 1 EPDnew 650.7 -1.0 -1005 0.1 HDGF MAX POLR2A GATA2 EGR1 EZH2 ZBTB2 L3MBTL2 RNF2 ZBED1 SEPT5-GP1BB GP1BB SEPT5
GH22J019724 Enhancer 0.8 ENCODE 650.7 -0.6 -554 0 HDAC1 SMAD1 FUS EGR1 ATF7 PHF21A NCOA1 ZEB2 SP1 MEF2D GP1BB LINC01311 DGCR8 TRMT2A RANBP1 ESS2 LOC100420177 SEPT5 SEPT5-GP1BB
GH22J019691 Enhancer 1.1 Ensembl ENCODE 13.3 -31.1 -31058 1.4 HDGF PKNOX1 SMAD1 ATF1 POLR2B GLIS2 ARID2 ZFP91 ATF7 SP3 SEPT5 GP1BB ABHD17AP4 ENSG00000225007
GH22J019642 Enhancer 1.1 Ensembl ENCODE 12.2 -78.9 -78920 2.1 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 NCOA1 DGCR8 LOC100420177 TRMT2A SEPT5 GP1BB LINC01311 RPL8P5 LOC100129254 LOC100420103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP1BB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GP1BB gene promoter:
  • deltaCREB
  • CREB
  • GATA-2
  • FosB
  • AP-1
  • c-Fos
  • c-Jun
  • Fra-1
  • JunB
  • JunD

Genomic Locations for GP1BB Gene

Genomic Locations for GP1BB Gene
1,830 bases
Plus strand
1,830 bases
Plus strand

Genomic View for GP1BB Gene

Genes around GP1BB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP1BB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP1BB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP1BB Gene

Proteins for GP1BB Gene

  • Protein details for GP1BB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Platelet glycoprotein Ib beta chain
    Protein Accession:
    Secondary Accessions:
    • Q14422
    • Q8NG40

    Protein attributes for GP1BB Gene

    206 amino acids
    Molecular mass:
    21718 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.
    • 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 GP1BB Gene

    Alternative splice isoforms for GP1BB Gene


neXtProt entry for GP1BB Gene

Post-translational modifications for GP1BB Gene

  • Glycosylation at Thr83 and Asn66
  • Modification sites at PhosphoSitePlus

Other Protein References for GP1BB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for GP1BB
  • Boster Bio Antibodies for GP1BB
  • Santa Cruz Biotechnology (SCBT) Antibodies for GP1BB

No data available for DME Specific Peptides for GP1BB Gene

Domains & Families for GP1BB Gene

Gene Families for GP1BB Gene

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

Suggested Antigen Peptide Sequences for GP1BB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GP1BB: view

No data available for UniProtKB/Swiss-Prot for GP1BB Gene

Function for GP1BB Gene

Molecular function for GP1BB Gene

UniProtKB/Swiss-Prot 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:
platelet glycoprotein Ib,beta (22kDa),overlapping the 3utr of PNUTL1 in the same orientation,linked to GP1BA through disulfide bonds in von Willebrand receptor

Phenotypes From GWAS Catalog for GP1BB Gene

Gene Ontology (GO) - Molecular Function for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity NAS 3353370
GO:0005515 protein binding IPI 4044584
GO:0042802 identical protein binding IPI 18674540
genes like me logo Genes that share ontologies with GP1BB: view
genes like me logo Genes that share phenotypes with GP1BB: view

Human Phenotype Ontology for GP1BB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP1BB Gene

MGI Knock Outs for GP1BB:

Animal Model Products

miRNA for GP1BB Gene

miRTarBase miRNAs that target GP1BB

Clone Products

  • Addgene plasmids for GP1BB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GP1BB Gene

Localization for GP1BB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP1BB Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

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 GP1BB gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 3353370
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GP1BB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GP1BB Gene

Pathways & Interactions for GP1BB Gene

genes like me logo Genes that share pathways with GP1BB: view

Gene Ontology (GO) - Biological Process for GP1BB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007166 cell surface receptor signaling pathway NAS 3353370
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with GP1BB: view

No data available for SIGNOR curated interactions for GP1BB Gene

Drugs & Compounds for GP1BB Gene

(1) Drugs for GP1BB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GP1BB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP1BB: view

Transcripts for GP1BB Gene

mRNA/cDNA for GP1BB Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(453) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GP1BB Gene

Glycoprotein Ib (platelet), beta polypeptide:
Representative Sequences:

Clone Products

  • Addgene plasmids for GP1BB

Alternative Splicing Database (ASD) splice patterns (SP) for GP1BB Gene

No ASD Table

Relevant External Links for GP1BB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GP1BB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GP1BB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GP1BB Gene

This gene is overexpressed in Platelet (41.0), Peripheral blood mononuclear cells (15.4), and Neutrophil (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GP1BB Gene

Protein tissue co-expression partners for GP1BB Gene

NURSA nuclear receptor signaling pathways regulating expression of GP1BB Gene:


SOURCE GeneReport for Unigene cluster for GP1BB Gene:


mRNA Expression by UniProt/SwissProt for GP1BB Gene:

Tissue specificity: Expressed in heart and brain.

Evidence on tissue expression from TISSUES for GP1BB Gene

  • Blood(4.5)
  • Liver(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GP1BB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • pelvis
  • rectum
  • ureter
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GP1BB: view

No data available for mRNA differential expression in normal tissues for GP1BB Gene

Orthologs for GP1BB Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP1BB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GP1BB 34
  • 100 (a)
(Mus musculus)
Mammalia Gp1bb 16 34 33
  • 87.61 (n)
(Canis familiaris)
Mammalia GP1BB 34 33
  • 87.16 (n)
(Rattus norvegicus)
Mammalia Gp1bb 33
  • 84.68 (n)
(Bos Taurus)
Mammalia GP1BB 34
  • 84 (a)
(Gallus gallus)
Aves GP1BB 34
  • 35 (a)
(Anolis carolinensis)
Reptilia GP1BB 34
  • 38 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gp1bb 33
  • 48.89 (n)
(Danio rerio)
Actinopterygii gp1bb 34 33
  • 58.4 (n)
Species where no ortholog for GP1BB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GP1BB Gene

Gene Tree for GP1BB (if available)
Gene Tree for GP1BB (if available)
Evolutionary constrained regions (ECRs) for GP1BB: view image

Paralogs for GP1BB Gene

Paralogs for GP1BB Gene

(1) SIMAP similar genes for GP1BB Gene using alignment to 2 proteins:

  • F1C636_HUMAN
genes like me logo Genes that share paralogs with GP1BB: view

Variants for GP1BB Gene

Sequence variations from dbSNP and Humsavar for GP1BB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs121909750 pathogenic, uncertain-significance, Macrothrombocytopenia, familial, Bernard-Soulier type, not specified, Bernard-Soulier syndrome (BSS) [MIM:231200] 19,724,181(+) A/G/T coding_sequence_variant, missense_variant
rs121909751 pathogenic, Macrothrombocytopenia, familial, Bernard-Soulier type, Bernard-Soulier syndrome (BSS) [MIM:231200] 19,724,240(+) G/C coding_sequence_variant, missense_variant
rs121909752 pathogenic, Bernard-Soulier syndrome, type B 19,723,980(+) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs587783648 likely-pathogenic, Bernard-Soulier syndrome, type B 19,724,183(+) C/T coding_sequence_variant, missense_variant
rs730882059 pathogenic, Bernard-Soulier syndrome, type B 19,723,410(+) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GP1BB Gene

Variant ID Type Subtype PubMed ID
dgv725n67 CNV gain 20364138
esv22571 CNV loss 19812545
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv953023 CNV deletion 24416366

Variation tolerance for GP1BB Gene

Gene Damage Index Score: 1.03; 21.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GP1BB Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BB Gene

Disorders for GP1BB Gene

MalaCards: The human disease database

(8) MalaCards diseases for GP1BB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GP1BB in MalaCards View complete list of genes associated with diseases


  • 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:9116284}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GP1BB Gene

Bernard-Soulier syndrome

Additional Disease Information for GP1BB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GP1BB: view

Publications for GP1BB Gene

  1. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P … Balduini CL (Haematologica 2004) 3 22 44 58
  2. Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. (PMID: 9116284) Kunishima S … Naoe T (Blood 1997) 3 4 22 58
  3. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. (PMID: 8200976) Kelly MD … Konkle BA (The Journal of clinical investigation 1994) 3 4 22 58
  4. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. (PMID: 8021244) Yagi M … Roth GJ (The Journal of biological chemistry 1994) 3 4 22 58
  5. Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera. (PMID: 21908432) McEwan PA … Emsley J (Blood 2011) 3 4 58

Products for GP1BB Gene

Sources for GP1BB Gene

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