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Aliases for ITGA2B Gene

Aliases for ITGA2B Gene

  • Integrin Subunit Alpha 2b 2 3 5
  • Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41) 2 3
  • Platelet Glycoprotein IIb Of IIb/IIIa Complex 2 3
  • Protein Phosphatase 1, Regulatory Subunit 93 2 3
  • Platelet Membrane Glycoprotein IIb 3 4
  • GPalpha IIb 3 4
  • GPIIb 3 4
  • GP2B 3 4
  • Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41B) 2
  • Platelet Fibrinogen Receptor, Alpha Subunit 3
  • Platelet-Specific Antigen BAK 3
  • Integrin Alpha-IIb 3
  • AlphaIIb Protein 3
  • CD41 Antigen 4
  • BDPLT16 3
  • PPP1R93 3
  • BDPLT2 3
  • CD41B 3
  • ITGAB 4
  • CD41 3
  • HPA3 3
  • GTA 3
  • GT 3

External Ids for ITGA2B Gene

Previous HGNC Symbols for ITGA2B Gene

  • GP2B

Previous GeneCards Identifiers for ITGA2B Gene

  • GC17M042191
  • GC17M044626
  • GC17M042460
  • GC17M042924
  • GC17M039805
  • GC17M038213

Summaries for ITGA2B Gene

Entrez Gene Summary for ITGA2B Gene

  • This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]

GeneCards Summary for ITGA2B Gene

ITGA2B (Integrin Subunit Alpha 2b) is a Protein Coding gene. Diseases associated with ITGA2B include Glanzmann Thrombasthenia and Bleeding Disorder, Platelet-Type, 16. Among its related pathways are Focal Adhesion and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and fibrinogen binding. An important paralog of this gene is ITGA8.

UniProtKB/Swiss-Prot for ITGA2B Gene

  • Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.

Tocris Summary for ITGA2B Gene

  • Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist as heterodimers of alpha and beta subunits. Under physiological conditions, integrins are highly glycosylated and contain a Ca2+ or Mg2+ ion, which is essential for ligand binding.

Gene Wiki entry for ITGA2B Gene

Additional gene information for ITGA2B Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA2B Gene

Genomics for ITGA2B Gene

GeneHancer (GH) Regulatory Elements for ITGA2B Gene

Promoters and enhancers for ITGA2B 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
GH17J044389 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 -0.8 -765 1.6 HNRNPUL1 ARNT TCF12 ZNF766 GATA2 NCOA1 REST ZNF592 GMEB1 SMARCA4 ITGA2B ASB16-AS1 DHX8 UBTF TMUB2 ENSG00000224505 FAM171A2 SLC25A39 HEXIM2 RN7SL258P
GH17J044344 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 +42.3 42347 5.5 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 POLR2B GRN UBTF SLC25A39 MEOX1 C17orf53 RUNDC3A-AS1 TMUB2 MAP3K14-AS1 LSM12 RUNDC3A
GH17J044443 Enhancer 0.7 ENCODE 10.9 -55.3 -55280 1.9 CTCF MTA2 DACH1 DPF2 RAD21 ZNF592 FOSL1 ZNF664 NFIC ZNF316 GPATCH8 ITGA2B GRN SLC25A39 HEXIM2 GC17P044475 RN7SL258P
GH17J044467 Enhancer 0.7 UCNEbase 10.9 -77.6 -77643 0.2 ZNF316 EMSY MAFK PRDM1 GPATCH8 ITGA2B MEIOC GC17P044475 RN7SL258P
GH17J044438 Enhancer 0.6 Ensembl ENCODE 11.3 -49.4 -49382 0.2 SP1 ZNF316 PRDM1 ITGA2B FAM171A2 RN7SL258P GC17P044475 GPATCH8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITGA2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGA2B gene promoter:
  • AML1a
  • ATF
  • Nkx2-5

Genomic Locations for ITGA2B Gene

Genomic Locations for ITGA2B Gene
17,326 bases
Minus strand
17,326 bases
Minus strand

Genomic View for ITGA2B Gene

Genes around ITGA2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA2B Gene

Proteins for ITGA2B Gene

  • Protein details for ITGA2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Integrin alpha-IIb
    Protein Accession:
    Secondary Accessions:
    • B2RCY8
    • O95366
    • Q14443
    • Q17R67

    Protein attributes for ITGA2B Gene

    1039 amino acids
    Molecular mass:
    113377 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-IIb associates with beta-3. Directly interacts with RNF181. Interacts (via C-terminus cytoplasmic tail region) with CIB1; the interaction is direct and calcium-dependent. Interacts (via C-terminus cytoplasmic tail region) with CIB2, CIB3 and CIB4; the interactions are stabilized/increased in a calcium and magnesium-dependent manner.

    Three dimensional structures from OCA and Proteopedia for ITGA2B Gene

    Alternative splice isoforms for ITGA2B Gene


neXtProt entry for ITGA2B Gene

Post-translational modifications for ITGA2B Gene

  • Glycosylation at isoforms=962, isoforms=2, 3878, isoforms=2, 3874, isoforms=2, 3711, isoforms=2, 3601, isoforms=2, 3280, and isoforms=2, 346
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA2B Gene

Antibody Products

  • R&D Systems Antibodies for ITGA2B (Integrin alpha 2b/CD41)
  • Abcam antibodies for ITGA2B

No data available for DME Specific Peptides for ITGA2B Gene

Domains & Families for ITGA2B Gene

Gene Families for ITGA2B Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the integrin alpha chain family.
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA2B: view

Function for ITGA2B Gene

Molecular function for ITGA2B Gene

UniProtKB/Swiss-Prot Function:
Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.
GENATLAS Biochemistry:
integrin,alpha 2B,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,dimerizing with ITGB3 in fibrinogen,fibronectin,von Willebrand factor,vitronectin,thrombospondin receptors

Phenotypes From GWAS Catalog for ITGA2B Gene

Gene Ontology (GO) - Molecular Function for ITGA2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14681217
GO:0042802 identical protein binding IPI 11606749
GO:0046872 metal ion binding IEA --
GO:0050840 extracellular matrix binding IEA --
GO:0070051 fibrinogen binding IEA --
genes like me logo Genes that share ontologies with ITGA2B: view
genes like me logo Genes that share phenotypes with ITGA2B: view

Human Phenotype Ontology for ITGA2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGA2B Gene

MGI Knock Outs for ITGA2B:

Animal Model Products

Clone Products

  • R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ITGA2B Gene

Localization for ITGA2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA2B 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 ITGA2B gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGA2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IEA --
GO:0008305 integrin complex IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface HDA,IEA 23382103
genes like me logo Genes that share ontologies with ITGA2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITGA2B Gene

Pathways & Interactions for ITGA2B Gene

SuperPathways for ITGA2B Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 Integrin Pathway
4 Signaling by moderate kinase activity BRAF mutants
5 Focal Adhesion
genes like me logo Genes that share pathways with ITGA2B: view

Gene Ontology (GO) - Biological Process for ITGA2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IEA,HDA 23382103
genes like me logo Genes that share ontologies with ITGA2B: view

No data available for SIGNOR curated interactions for ITGA2B Gene

Drugs & Compounds for ITGA2B Gene

(18) Drugs for ITGA2B Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tirofiban Approved Pharma antagonist, Target 40
Abciximab Approved Pharma antagonist, Target 65
Eptifibatide Approved, Investigational Pharma antagonist 31
Fradafiban Investigational Pharma Target 0
Lefradafiban Investigational Pharma Target 0

(5) Additional Compounds for ITGA2B Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Echistatin, alpha1 isoform

(5) Tocris Compounds for ITGA2B Gene

Compound Action Cas Number
A 205804 Selective inhibitor of E-selectin and ICAM-1 expression 251992-66-2
Echistatin, alpha1 isoform alphaVbeta3 and glycoprotein IIb/IIIa (integrin alphaIIbbeta3) inhibitor 154303-05-6
GR 144053 trihydrochloride Glycoprotein IIb/IIIa (integrin alphaIIbbeta3) receptor antagonist. Antithrombotic 1215333-48-4
Obtustatin Potent and selective alpha1beta1 inhibitor
P11 Potent antagonist of alphavbeta3-vitronectin interaction; antiangiogenic 848644-86-0
genes like me logo Genes that share compounds with ITGA2B: view

Transcripts for ITGA2B Gene

mRNA/cDNA for ITGA2B Gene

Unigene Clusters for ITGA2B Gene

Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41):
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - -
SP4: -

ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30
SP1: -

Relevant External Links for ITGA2B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ITGA2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGA2B Gene

mRNA differential expression in normal tissues according to GTEx for ITGA2B Gene

This gene is overexpressed in Whole Blood (x28.3).

Protein differential expression in normal tissues from HIPED for ITGA2B Gene

This gene is overexpressed in Platelet (40.6), Peripheral blood mononuclear cells (14.6), and Neutrophil (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ITGA2B Gene

Protein tissue co-expression partners for ITGA2B Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGA2B Gene:


SOURCE GeneReport for Unigene cluster for ITGA2B Gene:


mRNA Expression by UniProt/SwissProt for ITGA2B Gene:

Tissue specificity: Isoform 1 and isoform 2 are expressed in platelets and megakaryocytes, but not in reticulocytes. Not detected in Jurkat, nor in U937 cell lines (PubMed:2351656). Isoform 3 is expressed in prostate adenocarcinoma, as well as in several erythroleukemia, prostate adenocarcinoma and melanoma cell lines, including PC-3, DU-145, HEL, WM983A, WM983B and WM35. Not detected in platelets, nor in normal prostate (at protein level) (PubMed:9809974).

Evidence on tissue expression from TISSUES for ITGA2B Gene

  • Bone marrow(4.6)
  • Lung(4.3)
  • Spleen(4.3)
  • Blood(3.9)
  • Heart(2.7)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
Head and neck:
  • brain
  • face
  • head
  • mouth
  • nose
  • intestine
  • large intestine
  • small intestine
  • stomach
  • uterus
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ITGA2B: view

Orthologs for ITGA2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA2B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ITGA2B 34 33
  • 99.49 (n)
(Canis familiaris)
Mammalia ITGA2B 34 33
  • 86.08 (n)
(Bos Taurus)
Mammalia ITGA2B 34 33
  • 84.72 (n)
(Mus musculus)
Mammalia Itga2b 16 34 33
  • 82.47 (n)
(Rattus norvegicus)
Mammalia Itga2b 33
  • 81.8 (n)
(Monodelphis domestica)
Mammalia ITGA2B 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 24 (a)
(Gallus gallus)
Aves ITGA2B 34
  • 55 (a)
(Anolis carolinensis)
Reptilia ITGA2B 34
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itga2b.1 33
  • 53.18 (n)
(Danio rerio)
Actinopterygii itga2b 34 33
  • 52.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaPS4 35
  • 27 (a)
alphaPS5 35
  • 26 (a)
scb 35
  • 25 (a)
if 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea pat-2 34
  • 24 (a)
Species where no ortholog for ITGA2B 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)
  • 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)
  • 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 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)

Evolution for ITGA2B Gene

Gene Tree for ITGA2B (if available)
Gene Tree for ITGA2B (if available)
Evolutionary constrained regions (ECRs) for ITGA2B: view image

Paralogs for ITGA2B Gene

(7) SIMAP similar genes for ITGA2B Gene using alignment to 8 proteins:

  • B7Z8B0_HUMAN
  • F1C625_HUMAN
  • F1C626_HUMAN
  • K7EP83_HUMAN
genes like me logo Genes that share paralogs with ITGA2B: view

Variants for ITGA2B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA2B Gene

Position 874 is associated with platelet-specific alloantigen HPA-3/BAK/LEK. HPA-3A/BAK(A)/LEK(A) has Ile-874 and HPA-3B/BAK(B)/LEK(B) has Ser-874. HPA-3B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP).

Sequence variations from dbSNP and Humsavar for ITGA2B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1052533574 thrombasthenia (GT) [MIM:273800] 44,386,063(-) A/G coding_sequence_variant, missense_variant
rs1060499614 uncertain-significance, Glanzmann thrombasthenia, Platelet-type bleeding disorder 16 44,383,660(-) C/A/T coding_sequence_variant, missense_variant
rs114232872 uncertain-significance, Glanzmann thrombasthenia 44,377,758(-) C/T coding_sequence_variant, synonymous_variant
rs12938868 benign, likely-benign, not specified, Glanzmann thrombasthenia 44,378,349(-) G/A intron_variant
rs13306471 uncertain-significance, Glanzmann thrombasthenia 44,389,278(-) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ITGA2B Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for ITGA2B Gene

Residual Variation Intolerance Score: 4.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.19; 93.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGA2B Gene

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

Disorders for ITGA2B Gene

MalaCards: The human disease database

(35) MalaCards diseases for ITGA2B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Glanzmann thrombasthenia (GT) [MIM:273800]: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. {ECO:0000269 PubMed:10607701, ECO:0000269 PubMed:11798398, ECO:0000269 PubMed:12083483, ECO:0000269 PubMed:12181054, ECO:0000269 PubMed:12424194, ECO:0000269 PubMed:12506038, ECO:0000269 PubMed:15099289, ECO:0000269 PubMed:15219201, ECO:0000269 PubMed:17018384, ECO:0000269 PubMed:20020534, ECO:0000269 PubMed:7508443, ECO:0000269 PubMed:7706461, ECO:0000269 PubMed:8282784, ECO:0000269 PubMed:8704171, ECO:0000269 PubMed:9215749, ECO:0000269 PubMed:9473221, ECO:0000269 PubMed:9722314, ECO:0000269 PubMed:9734640, ECO:0000269 PubMed:9763559, ECO:0000269 PubMed:9920835}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. {ECO:0000269 PubMed:21454453, ECO:0000269 PubMed:9834222}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGA2B Gene

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Additional Disease Information for ITGA2B

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 ITGA2B: view

Publications for ITGA2B Gene

  1. Human platelet alloantigens HPA-1, HPA-2, and HPA-3 polymorphisms associated with extent of severe coronary artery disease. (PMID: 19562259) Abboud N … Mahjoub T (Journal of thrombosis and thrombolysis 2010) 3 22 44 58
  2. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. (PMID: 20020534) Jallu V … Kaplan C (Human mutation 2010) 3 4 22 58
  3. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. (PMID: 19691478) Kannan M … Saxena R (Journal of thrombosis and haemostasis : JTH 2009) 3 22 44 58
  4. Polymorphisms of the human platelet alloantigens HPA-1, HPA-2, HPA-3, and HPA-4 in ischemic stroke. (PMID: 18383324) Saidi S … Almawi WY (American journal of hematology 2008) 3 22 44 58
  5. Association of the gene polymorphisms of platelet glycoprotein Ia and IIb/IIIa with myocardial infarction and extent of coronary artery disease in the Korean population. (PMID: 15227729) Park S … Jang Y (Yonsei medical journal 2004) 3 22 44 58

Products for ITGA2B Gene

Sources for ITGA2B Gene

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