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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
  • 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 Glanzmann Thrombasthenia and Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant. Among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and GPCR Pathway. GO annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is ENSG00000259753.

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). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887).

  • (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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB3 Gene

Genomics for ITGB3 Gene

Regulatory Elements for ITGB3 Gene

Enhancers for ITGB3 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
GH17G048023 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +771.5 771481 4.6 CREB3L1 ZFP64 DMAP1 FEZF1 ZNF143 ZNF548 SP3 NFYC TBX21 MEF2D SNX11 ENSG00000266601 CDK5RAP3 COPZ2 ITGB3 ENSG00000253347 MRPL45P2 SKAP1 PRR15L NFE2L1
GH17G048238 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +988.3 988321 7.2 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS JUNB TBX21 ZNF592 SNX11 COPZ2 CDK5RAP3 ITGB3 RNU6-1152P SKAP1 MIR1203 EGID-105371807 ENSG00000266601 CBX1
GH17G047255 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +3.2 3166 3.2 ATF1 ARNT FEZF1 TCF12 ZNF121 ZNF766 ELK1 GATA2 KLF7 FOS ITGB3 EFCAB13 TBKBP1 THCAT158 RNU7-186P ENSG00000259753
GH17G047288 1.3 ENCODE dbSUPER 14 +35.5 35487 1.4 HDGF PKNOX1 ATF1 CREB3L1 ARNT GLI4 YY1 TCF12 ZNF121 ZNF766 EFCAB13 ITGB3 RNU7-186P MYL4 ENSG00000266601 TBKBP1 CBX1 ENSG00000276790
GH17G047239 2 FANTOM5 Ensembl ENCODE dbSUPER 9 -13.5 -13520 2.4 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 MRPL45P2 ENSG00000253347 MYL4 RPS7P11 ITGB3 EFCAB13 TBKBP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGB3 on UCSC Golden Path with GeneCards custom track

Promoters for ITGB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000095163 258 1001 CREB3L1 ARID4B SIN3A ZNF2 ZNF121 ZNF766 GLIS2 ZNF143 SP3 REST

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). ITGAV:ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1 (PubMed:23125415). ITGAV:ITGB3 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGAV:ITGB3 is found in a ternary complex with FGF1 and FGFR1 (PubMed:18441324). ITGAV:ITGB3 is found in a ternary complex with IGF1 and IGF1R (PubMed:19578119). ITGAV:ITGB3 interacts with FBN1 (PubMed:12807887).
    • (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

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 isoforms=2, 3125, isoforms=2, 3346, posLast=397397, isoforms=2, 3478, posLast=585585, and posLast=680680
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

  • Cloud-Clone Corp Assay Kits for ITGB3

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 :
  • Belongs to the integrin beta chain family.
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). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887).
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:0001968 fibronectin binding IMP 24658351
GO:0002020 protease binding IDA 22505472
GO:0003756 protein disulfide isomerase activity IDA 12204115
GO:0004872 receptor activity IEA --
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)

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
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 ITGB3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 2
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ITGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22027834
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2452834
GO:0005925 focal adhesion IEA,IDA 21423176
GO:0008305 integrin complex IEA,IDA 15215180
genes like me logo Genes that share ontologies with ITGB3: view

Pathways & Interactions for ITGB3 Gene

SuperPathways for ITGB3 Gene

SuperPathway Contained pathways
1 RET signaling
2 MAPK-Erk Pathway
3 Apoptotic Pathways in Synovial Fibroblasts
4 ERK Signaling
5 Integrin Pathway
genes like me logo Genes that share pathways with ITGB3: view

Pathways by source for ITGB3 Gene

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:0001938 positive regulation of endothelial cell proliferation IMP 10022831
GO:0002576 platelet degranulation TAS --
GO:0007044 cell-substrate junction assembly IEA --
GO:0007155 cell adhesion TAS,IEA 2452834
genes like me logo Genes that share ontologies with ITGB3: view

Drugs & Compounds for ITGB3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma antagonist, Target 65
Eptifibatide Approved, Investigational Pharma antagonist, Target 30
Tirofiban Approved Pharma antagonist, Target 37
Aspirin Approved, Vet_approved Pharma Channel blocker 1152
Anti-thymocyte Globulin (Rabbit) Approved Pharma Target 0

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

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

(5) Tocris Compounds for ITGB3 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

(14) ApexBio Compounds for ITGB3 Gene

Compound Action Cas Number
Cilengitide Integrin inhibitor for αvβ3 and αvβ5 188968-51-6
CWHM-12 1564286-55-0
Cyclo (-RGDfK) Inhibitor of αvβ3 integrin 161552-03-0
Echistatin, α1 isoform 154303-05-6
GR 144053 trihydrochloride 1215333-48-4
LDV FITC 1207610-07-8
Obtustatin
P11 848644-86-0
RGD (Arg-Gly-Asp) Peptides Inhibits integrin binding to RGD motifs 99896-85-2
RGDS peptide 91037-65-9
SB273005 αvβ3 antagonist 205678-31-5
TC-I 15 916734-43-5
TCS 2314 317353-73-4
Zaurategrast Integrin inhibitor 455264-31-0
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)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ITGB3 Gene



Protein tissue co-expression partners for ITGB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITGB3 Gene:

ITGB3

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.

Evidence on tissue expression from TISSUES for ITGB3 Gene

  • Blood(4.6)
  • Bone marrow(4.5)
  • Liver(4.2)
  • Muscle(4.2)
  • Skin(4.2)
  • Kidney(2.9)
  • Heart(2.5)
  • Spleen(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • 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
  • white blood cell
genes like me logo Genes that share expression patterns with ITGB3: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ITGB3 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia INTB3 35
  • 96 (a)
OneToMany
ITGB3 34
  • 90.63 (n)
dog
(Canis familiaris)
Mammalia GPIIIA 35
  • 94 (a)
OneToMany
ITGB3 34
  • 91.36 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgb3 34
  • 87.04 (n)
mouse
(Mus musculus)
Mammalia Itgb3 34 16 35
  • 86.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves ITGB3 34 35
  • 79.07 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb3 34
  • 70.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397699 34
zebrafish
(Danio rerio)
Actinopterygii itgb3b 34 35
  • 68.82 (n)
itgb3a 35
  • 60 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta mys 36
  • 42 (a)
bgrInt-ngr 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 36
  • 38 (a)
Species where no ortholog for ITGB3 was found in the sources mined by GeneCards:
  • 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

Variants for ITGB3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB3 Gene

ITB3_HUMAN-P05106
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).
ITB3_HUMAN-P05106
Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) has Ala-433. MO(+) is involved in NAIT.
ITB3_HUMAN-P05106
Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 and CA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT.
ITB3_HUMAN-P05106
Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) has Leu-59 and HPA-1B/ZW(B)/PL(A2) has Pro-59. HPA-1A is involved in fetal-maternal alloimmune thromobocytopenia (FMAIT) as well as in neonatal alloimmune thrombocytopenia (NAIT).
ITB3_HUMAN-P05106
Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+) has Cys-662.

Sequence variations from dbSNP and Humsavar for ITGB3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121918444 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 47,286,364(+) GTCAC(A/G)GAACC reference, missense
rs121918445 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 47,284,514(+) TGATG(G/T)ACCTG reference, missense
rs121918446 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 47,286,363(+) TGTCA(C/T)GGAAC reference, missense
rs121918447 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 47,310,169(+) CCACG(C/T)CTACC intron-variant, reference, missense
rs121918449 Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] 47,291,027(+) CACCT(A/G)CCTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGB3 Gene

Variant ID Type Subtype PubMed ID
esv3640696 CNV loss 21293372
nsv1146669 OTHER inversion 26484159

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

Human Gene Mutation Database (HGMD)
ITGB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB3

Disorders for ITGB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
bleeding disorder, platelet-type, 16, autosomal dominant
  • platelet-type bleeding disorder 16
myocardial infarction
  • myocardial infarction, protection against
autosomal dominant macrothrombocytopenia
thrombasthenia of glanzmann and naegeli, itgb3-related
  • glycoprotein complex iib-iiia, 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. 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. 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 22 46 64
  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 22 46 64
  4. [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 22 46 64
  5. [Distributions of polymorphisms of genes of some components of hemostasis in patients with ischemic heart disease]. (PMID: 19463111) Pavlova T.V. … Shavkunov S.A. (Kardiologiia 2009) 3 22 46 64

Products for ITGB3 Gene

  • Addgene plasmids for ITGB3

Sources for ITGB3 Gene