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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 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant and Glanzmann Thrombasthenia. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. 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

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

Genomics for ITGA2B Gene

Regulatory Elements for ITGA2B Gene

Enhancers for ITGA2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G044344 1.8 FANTOM5 ENCODE dbSUPER 11.3 +42.3 42348 5.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 DHX8 SLC25A39 MEOX1 EFTUD2 RUNDC3A-AS1 ASB16-AS1 UBTF RUNDC3A ENSG00000221496 RNU6-453P
GH17G044438 1 Ensembl ENCODE 11.3 -49.4 -49383 0.2 HDAC1 TAL1 ZNF316 EGR1 NCOR1 CREM SMARCE1 ZNF263 L3MBTL2 MTA2 ITGA2B FAM171A2 RN7SL258P GC17P044475
GH17G044443 0.9 ENCODE 10.9 -55.3 -55281 1.9 PKNOX1 ARID4B RAD21 THRB RARA FOS SP5 PPARG NR2F2 ZNF592 GPATCH8 ITGA2B GRN SLC25A39 HEXIM2 GC17P044475 RN7SL258P
GH17G044323 1.7 FANTOM5 ENCODE dbSUPER 1.6 +64.0 64011 3.8 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SLC4A1 SLC25A39 UBTF ASB16-AS1 ITGA2B TMUB2 ENSG00000267211
GH17G044389 1.2 Ensembl ENCODE 0.7 -0.8 -794 1.5 HNRNPUL1 PKNOX1 CREB3L1 ARNT SIN3A TCF12 ZNF766 GATA2 NCOA1 REST FAM171A2 SLC25A39 HEXIM2 ITGA2B RN7SL258P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGA2B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ITGA2B gene promoter:

Genomic Location for ITGA2B Gene

Chromosome:
17
Start:
44,372,180 bp from pter
End:
44,389,505 bp from pter
Size:
17,326 bases
Orientation:
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:
    P08514-ITA2B_HUMAN
    Recommended name:
    Integrin alpha-IIb
    Protein Accession:
    P08514
    Secondary Accessions:
    • B2RCY8
    • O95366
    • Q14443
    • Q17R67

    Protein attributes for ITGA2B Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGA2B Gene

Post-translational modifications for ITGA2B Gene

  • Glycosylation at isoforms=2, 346, posLast=280280, isoforms=2, 3601, posLast=711711, isoforms=2, 3874, posLast=878878, and posLast=962962
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA2B Gene

Antibody Products

  • R&D Systems Antibodies for ITGA2B (Integrin alpha 2b/CD41)
  • Cell Signaling Technology (CST) Antibodies for ITGA2B (ITGA2B)

No data available for DME Specific Peptides for ITGA2B Gene

Domains & Families for ITGA2B Gene

Graphical View of Domain Structure for InterPro Entry

P08514

UniProtKB/Swiss-Prot:

ITA2B_HUMAN :
  • Belongs to the integrin alpha chain family.
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

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
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.

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

CRISPR Products

Inhibitory RNA 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

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 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:0005887 integral component of plasma membrane TAS 2439501
GO:0005925 focal adhesion IEA --
GO:0008305 integrin complex IEA --
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with ITGA2B: view

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 TAS 2439501
GO:0007160 cell-matrix adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IDA,IEA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tirofiban Approved Pharma antagonist, Target 37
Abciximab Approved Pharma antagonist, Target 65
Eptifibatide Approved, Investigational Pharma antagonist 30
Lefradafiban Investigational Pharma Target 0
GANTOFIBAN Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BTT 3033
1259028-99-3

(5) Tocris Compounds for ITGA2B Gene

Compound Action Cas Number
BIO 1211 Selective alpha4beta1 (VLA-4) inhibitor 187735-94-0
BTT 3033 Selective inhibitor of integrin alpha2beta1 1259028-99-3
Cilengitide Potent and selective inhibitor of integrins alphavbeta3 and alphavbeta5 188968-51-6
Obtustatin Potent and selective alpha1beta1 inhibitor
TC-I 15 Potent alpha2beta1 inhibitor; displays antithrombotic activity in vivo 916734-43-5

(1) ApexBio Compounds for ITGA2B Gene

Compound Action Cas Number
Tirofiban 144494-65-5
genes like me logo Genes that share compounds with ITGA2B: view

Drug Products

Transcripts for ITGA2B Gene

Unigene Clusters for ITGA2B Gene

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

CRISPR Products

Inhibitory RNA Products

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: - - -
SP2:
SP3:
SP4: -
SP5:

ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ITGA2B Gene

GeneLoc Exon Structure for
ITGA2B
ECgene alternative splicing isoforms for
ITGA2B

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, PaxDb, and MOPED for ITGA2B Gene



Protein tissue co-expression partners for ITGA2B Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGA2B Gene:

ITGA2B

SOURCE GeneReport for Unigene cluster for ITGA2B Gene:

Hs.411312

mRNA Expression by UniProt/SwissProt for ITGA2B Gene:

P08514-ITA2B_HUMAN
Tissue specificity: Isoform 1 and isoform 2 were identified in platelets and megakaryocytes, but not in reticulocytes or in Jurkat and U-937 white blood cell line. Isoform 3 is expressed by leukemia, prostate adenocarcinoma and melanoma cells but not by platelets or normal prostate or breast epithelial cells.

Evidence on tissue expression from TISSUES for ITGA2B Gene

  • Bone marrow(4.6)
  • Lung(4.3)
  • Spleen(4.3)
  • Blood(3.9)
  • Heart(2.6)
  • Liver(2.1)

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

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

Primer Products

Orthologs for ITGA2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA2B 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia ITGA2B 34 35
  • 86.08 (n)
cow
(Bos Taurus)
Mammalia ITGA2B 34 35
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Itga2b 34 16 35
  • 82.47 (n)
rat
(Rattus norvegicus)
Mammalia Itga2b 34
  • 81.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGA2B 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 24 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ITGA2B 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA2B 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga2b.1 34
  • 53.18 (n)
zebrafish
(Danio rerio)
Actinopterygii itga2b 34 35
  • 52.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaPS4 36
  • 27 (a)
alphaPS5 36
  • 26 (a)
scb 36
  • 25 (a)
if 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pat-2 35
  • 24 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ITGA2B (if available)
TreeFam:
Gene Tree for ITGA2B (if available)

Paralogs for ITGA2B Gene

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

genes like me logo Genes that share paralogs with ITGA2B: view

Variants for ITGA2B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA2B Gene

ITA2B_HUMAN-P08514
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 Sequence Context AA Info Type
rs137852907 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 44,384,567(-) CGTGG(A/G)CGAGT reference, missense
rs137852908 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 44,383,630(-) GGGGC(A/G)TGTGT reference, missense
rs137852910 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 44,383,640(-) TGGCC(A/G)AAGTG reference, missense
rs137852911 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 44,385,193(-) GGTGC(C/T)TGGGG reference, missense
rs74475415 Glanzmann thrombasthenia (GT) [MIM:273800] 44,376,323(-) GGCCC(A/C)AGTGG reference, missense

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)

Relevant External Links for ITGA2B Gene

Human Gene Mutation Database (HGMD)
ITGA2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA2B

Disorders for ITGA2B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 16, autosomal dominant
  • platelet-type bleeding disorder 16
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
autosomal dominant macrothrombocytopenia
thrombasthenia of glanzmann and naegeli, itga2b-related
  • glycoprotein complex iib-iiia, deficiency of
thrombasthenia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ITA2B_HUMAN
  • 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.
  • 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.

Genatlas disease for ITGA2B Gene

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Relevant External Links for ITGA2B

Genetic Association Database (GAD)
ITGA2B
Human Genome Epidemiology (HuGE) Navigator
ITGA2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA2B
genes like me logo Genes that share disorders with ITGA2B: view

Publications for ITGA2B Gene

  1. 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. (Hum. Mutat. 2010) 3 4 22 64
  2. 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. (J. Thromb. Thrombolysis 2010) 3 22 46 64
  3. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. (PMID: 19691478) Kannan M. … Saxena R. (J. Thromb. Haemost. 2009) 3 22 46 64
  4. Polymorphisms of the human platelet alloantigens HPA-1, HPA-2, HPA-3, and HPA-4 in ischemic stroke. (PMID: 18383324) Saidi S. … Almawi W.Y. (Am. J. Hematol. 2008) 3 22 46 64
  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 Med. J. 2004) 3 22 46 64

Products for ITGA2B Gene

Sources for ITGA2B Gene

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