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Aliases for ITGB3 Gene

Aliases for ITGB3 Gene

  • Integrin Subunit Beta 3 2 3 5
  • Integrin, Beta 3 (Platelet Glycoprotein IIIa, Antigen CD61) 2 3
  • Platelet Membrane Glycoprotein IIIa 3 4
  • Antigen CD61 2 3
  • GPIIIa 3 4
  • GP3A 3 4
  • Platelet Glycoprotein IIIa 2
  • Integrin Beta 3 3
  • CD61 Antigen 4
  • BDPLT16 3
  • BDPLT2 3
  • CD61 3
  • GT 3

External Ids for ITGB3 Gene

Previous HGNC Symbols for ITGB3 Gene

  • GP3A

Previous GeneCards Identifiers for ITGB3 Gene

  • GC17P044829
  • GC17P047729
  • GC17P045673
  • GC17P045805
  • GC17P042686
  • GC17P045331
  • GC17P040709

Summaries for ITGB3 Gene

Entrez Gene Summary for ITGB3 Gene

  • The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITGB3 Gene

ITGB3 (Integrin Subunit Beta 3) is a Protein Coding gene. Diseases associated with ITGB3 include bleeding disorder, platelet-type, 16, autosomal dominant and glanzmann thrombasthenia. Among its related pathways are Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is ITGB4.

UniProtKB/Swiss-Prot for ITGB3 Gene

  • Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 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 surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity).

  • (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for herpes virus 8/HHV-8 (PubMed:18045938). Integrin ITGAV:ITGB3 acts as a receptor for coxsackievirus A9 (PubMed:7519807). Acts as a receptor for Hantaan virus (PubMed:9618541). Integrin ITGAV:ITGB3 acts as a receptor for cytomegalovirus/HHV-5 (PubMed:15834425). Integrin ITGA5:ITGB3 acts as a receptor for human metapneumovirus (PubMed:24478423). Integrin ITGAV:ITGB3 acts aP05556s a receptor for human parechovirus 1 (PubMed:11160695). Integrin ITGAV:ITGB3 acts as a receptor for west nile virus (PubMed:23658209). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions (PubMed:10397733).

Tocris Summary for ITGB3 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 ITGB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB3 Gene

Genomics for ITGB3 Gene

Regulatory Elements for ITGB3 Gene

Promoters for ITGB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGB3 Gene

Chromosome:
17
Start:
47,253,842 bp from pter
End:
47,312,711 bp from pter
Size:
58,870 bases
Orientation:
Plus strand

Genomic View for ITGB3 Gene

Genes around ITGB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB3 Gene

Proteins for ITGB3 Gene

  • Protein details for ITGB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05106-ITB3_HUMAN
    Recommended name:
    Integrin beta-3
    Protein Accession:
    P05106
    Secondary Accessions:
    • A0PJW2
    • D3DXJ8
    • O15495
    • Q12806
    • Q13413
    • Q14648
    • Q16499

    Protein attributes for ITGB3 Gene

    Size:
    788 amino acids
    Molecular mass:
    87058 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Beta-3 (ITGB3) associates with either alpha-IIb (ITGA2B) or alpha-V (ITGAV). Isoform Beta-3C interacts with FLNB. Interacts with COMP. Interacts with PDIA6 following platelet stimulation. Interacts with SYK; upon activation by ITGB3 promotes platelet adhesion. Interacts with MYO10. Interacts with DAB2. Interacts with FERMT2. Interacts with EMP2; regulates the levels of the heterodimer ITGA5:ITGB3 integrin expression on the plasma membrane (PubMed:16216233). Integrin ITGAV:ITGB3 interacts with FBLN5 (via N-terminus) (By similarity). ITGAV:ITGB3 interacts with NOV (PubMed:12695522).
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with herpes virus 8/HHV-8 glycoprotein B.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with coxsackievirus A9 capsid proteins.
    • (Microbial infection) Interacts with Hantaan virus glycoprotein G.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with cytomegalovirus/HHV-5 gH:gL proteins.
    • (Microbial infection) Integrin ITGA5:ITGB3 interacts with human metapneumovirus fusion protein.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with human parechovirus 1 capsid proteins.
    • (Microbial infection) Integrin ITGAV:ITGB3 interacts with west nile virus envelope protein E.
    • (Microbial infection) Interacts with HIV-1 Tat (PubMed:10397733). ITGAV:ITGB3 interacts with AGRA2 (PubMed:16982628).

    Three dimensional structures from OCA and Proteopedia for ITGB3 Gene

    Alternative splice isoforms for ITGB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB3 Gene

Proteomics data for ITGB3 Gene at MOPED

Post-translational modifications for ITGB3 Gene

  • Phosphorylated on tyrosine residues in response to thrombin-induced platelet aggregation. Probably involved in outside-in signaling. A peptide (AA 740-762) is capable of binding GRB2 only when both Tyr-773 and Tyr-785 are phosphorylated. Phosphorylation of Thr-779 inhibits SHC binding.
  • Glycosylation at Asn 125, Asn 346, Asn 397, Asn 478, Asn 585, and Asn 680
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGB3 Gene

Domains & Families for ITGB3 Gene

Gene Families for ITGB3 Gene

Graphical View of Domain Structure for InterPro Entry

P05106

UniProtKB/Swiss-Prot:

ITB3_HUMAN :
  • Contains 1 VWFA domain.
  • Belongs to the integrin beta chain family.
Domain:
  • Contains 1 VWFA domain.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB3: view

Function for ITGB3 Gene

Molecular function for ITGB3 Gene

GENATLAS Biochemistry:
integrin,beta 3,platelet glycoprotein IIIa,Pen alloantigen,Sra alloantigen,involved in neonatal alloimmune thrombocytopenia and post-transfusion purpura,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,contributor,in association with PAI1 in susceptibility to myocardial infarction in Finnish population (see PAI1)
UniProtKB/Swiss-Prot Function:
Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 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 surface. Fibrinogen binding enhances SELP expression in activated platelets (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for herpes virus 8/HHV-8 (PubMed:18045938). Integrin ITGAV:ITGB3 acts as a receptor for coxsackievirus A9 (PubMed:7519807). Acts as a receptor for Hantaan virus (PubMed:9618541). Integrin ITGAV:ITGB3 acts as a receptor for cytomegalovirus/HHV-5 (PubMed:15834425). Integrin ITGA5:ITGB3 acts as a receptor for human metapneumovirus (PubMed:24478423). Integrin ITGAV:ITGB3 acts aP05556s a receptor for human parechovirus 1 (PubMed:11160695). Integrin ITGAV:ITGB3 acts as a receptor for west nile virus (PubMed:23658209). In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposis sarcoma lesions (PubMed:10397733).

Gene Ontology (GO) - Molecular Function for ITGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0002020 protease binding IDA 22505472
genes like me logo Genes that share ontologies with ITGB3: view
genes like me logo Genes that share phenotypes with ITGB3: view

Human Phenotype Ontology for ITGB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGB3 Gene

MGI Knock Outs for ITGB3:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGB3
  • R&D Systems cDNA Clones for ITGB3 (Integrin beta 3/CD61)

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITGB3 Gene

Localization for ITGB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB3 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane. Cell junction, focal adhesion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGB3 Gene COMPARTMENTS Subcellular localization image for ITGB3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ITGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031258 lamellipodium membrane IDA 25063885
GO:0031527 filopodium membrane IDA 25063885
GO:0032587 ruffle membrane IDA 25063885
genes like me logo Genes that share ontologies with ITGB3: view

Pathways & Interactions for ITGB3 Gene

SuperPathways for ITGB3 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 ERK Signaling
4 Integrin Pathway
5 Platelet activation, signaling and aggregation
genes like me logo Genes that share pathways with ITGB3: view

SIGNOR curated interactions for ITGB3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ITGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation TAS 19267251
GO:0007155 cell adhesion TAS 2452834
GO:0007160 cell-matrix adhesion IMP 7525578
GO:0007229 integrin-mediated signaling pathway IEA,TAS 21488147
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with ITGB3: view

Drugs & Compounds for ITGB3 Gene

(32) Drugs for ITGB3 Gene - From: DGIdb, Novoseek, DrugBank, PharmGKB, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma antagonist, Target 64
Antithymocyte globulin Approved Pharma binder, Target 0
Eptifibatide Approved, Investigational Pharma antagonist, Target 29
Tirofiban Approved Pharma antagonist, Target 33
Aspirin Approved Pharma Channel blocker 1029

(17) Additional Compounds for ITGB3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Echistatin, alpha1 isoform
154303-05-6
GR 144053 trihydrochloride
1215333-48-4
Leukadherin 1
344897-95-6

(5) Tocris Compounds for ITGB3 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
Leukadherin 1 Allosteric activator of CD11b/CD18 344897-95-6
MNS Selective inhibitor of Src and Syk 1485-00-3

(2) ApexBio Compounds for ITGB3 Gene

Compound Action Cas Number
Cyclo (-RGDfK) Inhibitor of αvβ3 integrin 161552-03-0
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
genes like me logo Genes that share compounds with ITGB3: view

Drug Products

Transcripts for ITGB3 Gene

mRNA/cDNA for ITGB3 Gene

Unigene Clusters for ITGB3 Gene

Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ITGB3
  • R&D Systems cDNA Clones for ITGB3 (Integrin beta 3/CD61)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB3 Gene

No ASD Table

Relevant External Links for ITGB3 Gene

GeneLoc Exon Structure for
ITGB3
ECgene alternative splicing isoforms for
ITGB3

Expression for ITGB3 Gene

mRNA expression in normal human tissues for ITGB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB3 Gene

This gene is overexpressed in Artery - Aorta (x5.6), Artery - Tibial (x4.8), Artery - Coronary (x4.1), and Colon - Sigmoid (x4.0).

Protein differential expression in normal tissues from HIPED for ITGB3 Gene

This gene is overexpressed in Platelet (28.4), Peripheral blood mononuclear cells (24.7), and Neutrophil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ITGB3 Gene



SOURCE GeneReport for Unigene cluster for ITGB3 Gene Hs.218040

mRNA Expression by UniProt/SwissProt for ITGB3 Gene

P05106-ITB3_HUMAN
Tissue specificity: Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressed in osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis.
genes like me logo Genes that share expression patterns with ITGB3: view

Protein tissue co-expression partners for ITGB3 Gene

Primer Products

In Situ Assay Products

Orthologs for ITGB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITGB3 35
  • 90.63 (n)
  • 95.4 (a)
INTB3 36
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ITGB3 35
  • 91.36 (n)
  • 95.53 (a)
GPIIIA 36
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Itgb3 35
  • 86.62 (n)
  • 90.72 (a)
Itgb3 16
Itgb3 36
  • 91 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ITGB3 35
  • 99.53 (n)
  • 99.75 (a)
rat
(Rattus norvegicus)
Mammalia Itgb3 35
  • 87.04 (n)
  • 90.22 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves ITGB3 35
  • 79.07 (n)
  • 83.25 (a)
ITGB3 36
  • 81 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb3 35
  • 70.4 (n)
  • 76.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397699 35
zebrafish
(Danio rerio)
Actinopterygii itgb3b 35
  • 68.82 (n)
  • 70.98 (a)
itgb3a 36
  • 60 (a)
ManyToMany
itgb3b 36
  • 68 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta bgrInt-ngr 37
  • 30 (a)
mys 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 37
  • 38 (a)
Species with no ortholog for ITGB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 ITGB3 Gene

ENSEMBL:
Gene Tree for ITGB3 (if available)
TreeFam:
Gene Tree for ITGB3 (if available)

Paralogs for ITGB3 Gene

genes like me logo Genes that share paralogs with ITGB3: view

Variants for ITGB3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB3 Gene

P05106-ITB3_HUMAN
Position 169 is associated with platelet-specific alloantigen HPA-4 (PEN or YUK). HPA-4A/PEN(A)/YUK(A) has Arg-169 and HPA-4B/PEN(B)/YUK(B) has Gln-169. HPA-4B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP).

Sequence variations from dbSNP and Humsavar for ITGB3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs5918 - 47,283,364(+) GCCTC(C/T)GGGCT reference, missense
rs5917 - 47,284,587(+) GATGC(A/G)AAAGC reference, missense
rs121918448 - 47,292,175(+) GCTGT(A/C/G)CCCAG reference, missense
rs13306487 - 47,292,422(+) CCCCC(A/C/G)GGAGG reference, missense
rs151219882 - 47,300,548(+) ACTGC(A/C/T)GTGAC reference, missense

Variation tolerance for ITGB3 Gene

Residual Variation Intolerance Score: 34.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB3 Gene

HapMap Linkage Disequilibrium report
ITGB3
Human Gene Mutation Database (HGMD)
ITGB3

No data available for Structural Variations from Database of Genomic Variants (DGV) for ITGB3 Gene

Disorders for ITGB3 Gene

MalaCards: The human disease database

(37) MalaCards diseases for ITGB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 16, autosomal dominant
  • bleeding disorder, platelet-type 16
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
myocardial infarction
  • myocardial infarction, protection against
autosomal dominant macrothrombocytopenia
thrombasthenia of glanzmann and naegeli, itgb3-related
  • platelet fibrinogen receptor, deficiency of
- elite association - COSMIC cancer census association via MalaCards
Search ITGB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITB3_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:18065693}. 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:10233432, ECO:0000269 PubMed:11588040, ECO:0000269 PubMed:11897046, ECO:0000269 PubMed:12083483, ECO:0000269 PubMed:12353082, ECO:0000269 PubMed:1371279, ECO:0000269 PubMed:1438206, ECO:0000269 PubMed:15583747, ECO:0000269 PubMed:15634267, ECO:0000269 PubMed:15748237, ECO:0000269 PubMed:1602006, ECO:0000269 PubMed:20020534, ECO:0000269 PubMed:2392682, ECO:0000269 PubMed:8781422, ECO:0000269 PubMed:9215749, ECO:0000269 PubMed:9376589, ECO:0000269 PubMed:9684783, ECO:0000269 PubMed:9790984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGB3 Gene

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Relevant External Links for ITGB3

Genetic Association Database (GAD)
ITGB3
Human Genome Epidemiology (HuGE) Navigator
ITGB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB3
genes like me logo Genes that share disorders with ITGB3: view

Publications for ITGB3 Gene

  1. A new platelet polymorphism Duv(a+), localized within the RGD binding domain of glycoprotein IIIa, is associated with neonatal thrombocytopenia. (PMID: 12036875) Jallu V. … Kaplan C. (Blood 2002) 3 4 48 67
  2. Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. (PMID: 19588468) Ma D.Q. … Martin E.R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  3. The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers. (PMID: 19876733) Jakubowska A. … Lubinski J. (Breast Cancer Res. Treat. 2010) 3 23
  4. 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 23
  5. [Association of the integrin gene polymorphisms with ischemic stroke and plasma lipid levels]. (PMID: 19350519) Wei Y.S. … Xie H.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009) 3 23

Products for ITGB3 Gene

  • Addgene plasmids for ITGB3

Sources for ITGB3 Gene

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