ITGB3 Gene
protein-coding GIFtS : 70 GCID: GC17 P045331
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) GP3A )
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Aliasesfor ITGB3 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Integrin, Beta 3 (Platelet Glycoprotein IIIa, Antigen CD61) 1 2 BDPLT22 GP3A1 2 3 5 GT2 GPIIIa1 2 3 Integrin Beta-32 CD611 2 CD61 Antigen3 Platelet Membrane Glycoprotein IIIa2 3
Export aliases for ITGB3 gene to outside databases Previous GC identifers: GC17P044829 GC17P047729 GC17P045673 GC17P045805 GC17P042686 GC17P040709
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Summariesfor ITGB3 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for ITGB3 : 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) UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Function : Integrin alpha-V/beta-3 is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2,osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 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. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions summary
for ITGB3 : Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist asheterodimers of alpha and beta subunits. At physiological conditions, integrins are highly glycosylated andcontain a Ca2+ or Mg2+ ion, which is essential for ligand binding. Integrin receptors are critical for cellattachment to the extracellular matrix (ECM) and this is mediated through integrin-fibronectin,-vitronectin, -collagen and -laminin interactions. Intracellularly, integrins form adhesion complexes withproteins including talin, vinculin, paxillin and alpha-actinin. They also regulate kinases, such as focaladhesion kinase and Src family kinases, to mediate attachment to the actin cytoskeleton. Integrins also havea significant role in cell signaling and can activate protein kinases involved in the regulation of cellgrowth, division, survival, differentiation, migration and apoptosis. Glycoprotein II/IIIb (alphaIIbbeta3)is an integrin receptor found on the surface of platelets. It is involved in the cross-linking of plateletswith fibrin, and so has a vital role in blood clot formation. Gene Wiki entry for ITGB3 (CD61)
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Genomic Viewsfor ITGB3 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000017.10 NC_018928.1 NT_010783.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ITGB3 gene promoter:ER-alpha PPAR-gamma1 PPAR-gamma2 NF-kappaB NF-kappaB1 C/EBPalpha Other transcription factors Search SABiosciences Chromatin IP Primers for ITGB3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGB3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 17q21.32 Ensembl cytogenetic band: 17q21.32 HGNC cytogenetic band: 17q21.32 ITGB3 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17P045331: view genomic region
(about GC identifiers )
Start: 45,331,208 bp from pter End:
45,421,658 bp from pter
Size: 90,451 bases Orientation:
plus strand
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Proteinsfor ITGB3 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 See
protein sequence )Recommended Name: Size : 788 amino acids; 87058 DaSubunit : Heterodimer of an alpha and a beta subunit. Beta-3 associates with either alpha-IIb or alpha-V. IsoformBeta-3C interacts with FLNB. Interacts with COMP. Interacts with HIV-1 Tat. Interacts with PDIA6 following platelet stimulation. Interacts with SYK; upon activation by ITGB3 promotes platelet adhesion. Interacts with MYO10. Interacts with DAB2
Subcellular location : Membrane; Single-pass type I membrane protein6/43 PDB 3D structures from (see all 43 ):1JV2 (3D) 1KUP (3D) 1KUZ (3D) 1L5G (3D) 1M1X (3D) 1M8O (3D) Secondary accessions : A0PJW2 D3DXJ8 O15495 Q12806 Q13413 Q14648 Q16499Alternative splicing : 3 isoforms : P05106-1 P05106-2 P05106-3 Explore the universe of human proteins at neXtProt for ITGB3: NX_P05106 Post-translational modifications:
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 binding1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P05106 ITGB3 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000203.2 ENSEMBL proteins: ENSP00000452786 ENSP00000461626 ENSP00000465586 ENSP00000262017 ENSP00000407801 Reactome Protein details: P05106 Human Recombinant Protein Products: Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7 ): About this table
About GeneDecksing ITGB3 Antibody Products: Assay Products for ITGB3:
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Protein
Domains /for ITGB3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry P05106 ProtoNet protein and cluster: P05106
3 Blocks protein families : IPB001169 IPB002035 IPB002369 UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Similarity : Belongs to the integrin beta chain familySimilarity : Contains 1 VWFA domain
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Functionfor ITGB3 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Function : Integrin alpha-V/beta-3 is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2,osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 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. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions
Genatlas biochemistry entry for ITGB3 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) Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ITGB3 (NM_000212 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ITGB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ITGB3
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB3
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
About GeneDecksing 2 GenomeRNAi human phenotypes for ITGB3 :Animal Models: Itgb3 tm1Hyn Itgb3 tm1Aja 15/20 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Itgb3) (see all 20 ):About GeneDecksing
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Pathways & Interactionsfor ITGB3 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/53 super-pathways (see all 53 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Cell adhesion_Integrin-mediated cell adhesion and migration 2 Integrin Pathway 3 Rho Family GTPases 4 Apoptotic Pathways in Synovial Fibroblasts 5 GRB2:SOS provides linkage to MAPK signaling for Intergrins
Pathway sources See GeneCards unified pathways Show all pathways 5 5/35 (see all 35 )2 5/6 (see all 6 )5/16 (see all 16 ) 5/21 (see all 21 )2 ITGB3 5/9 (Kegg details for ITGB3) (see all 9 ):About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITGB3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/212 Interacting proteins for ITGB3 (P05106 1 , 2 , 3 ENSP00000262017 4 via UniProtKB, MINT, STRING , and/or I2D (see all 212 )Interactant Interaction Details GeneCard External ID(s) ITGA2B P08514 1 , 2 , 3 ENSP00000262407 4 EBI-702847,EBI-702693 MINT-7261217 MINT-7261157 MINT-7261259 MINT-7261298 MINT-7261237 MINT-7261175 MINT-7261198 MINT-7261279 I2D:
score=6 STRING: ENSP00000262407 TLN1 Q9Y490 2 , 3 ENSP00000316029 4 MINT-1795071 MINT-1795026 MINT-2793444 MINT-1795056 I2D:
score=4 STRING: ENSP00000316029 EPS8 Q12929 2 , 3 ENSP00000281172 4 MINT-45900 I2D:
score=3 STRING: ENSP00000281172 TENC1 Q63HR2 2 , 3 ENSP00000319756 4 MINT-61480 I2D:
score=3 STRING: ENSP00000319756 RGS12 O14924 2 , 3 ENSP00000339381 4 MINT-45916 I2D:
score=2 STRING: ENSP00000339381
About this table Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29 ): About this table
About GeneDecksing
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Drugs & Compoundsfor ITGB3 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Compounds for ITGB3 available from Tocris Bioscience About this table Compound Action
CAS
# RGDS peptide Integrin binding sequence; inhibits integrin receptor function [91037-65-9] MNS Selective inhibitor of Src and Syk [1485-00-3] Echistatin, alpha1 isoform alphaVbeta3 and glycoprotein IIb/IIIa (alphaIIbbeta3) inhibitor [154303-05-6] GR 144053 trihydrochloride Glycoprotein IIb/IIIa (alphaIIbbeta3) receptor antagonist. Antithrombotic [201304-22-5]
4 DrugBank Compounds for ITGB3 About this table 10/30 Novoseek chemical compound relationships for ITGB3 gene (see all 30 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen
78
55
1706596 (4), 1957276 (3), 1705115 (2), 8317479 (2) (see all 38 )
sele
61.7
2
11714857 (1), 15076187 (1)
adp
61
19
8547151 (1), 16769603 (1), 2064610 (1), 1412224 (1) (see all 8 )
ristocetin
59.9
1
16769603 (1)
rhodostomin
50.6
2
8611404 (2)
1,25 dihydroxy vitamin d3
33.7
1
10913332 (1)
aspirin
24.7
6
10725977 (3), 17559347 (1), 19703819 (1)
tyrosine
14.4
9
8581996 (3), 8547151 (1), 7526955 (1), 10863474 (1) (see all 6 )
phosphatidylserine
6.83
1
17334510 (1)
diethylstilbestrol
5.01
1
7750590 (1)
ITGB3 / ITB3
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Transcriptsfor ITGB3 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ITGB3 gene: NM_000212.2 Unigene Cluster for ITGB3:
Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) Hs.218040 [show with all ESTs ] Unigene Representative Sequence: NM_000212 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000559488 ENST00000571680 (uc002ili.1 ) ENST00000573377 ENST00000262017 (uc002ilj.3 )ENST00000435993 (uc010wkr.1 ) Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ITGB3 (NM_000212 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ITGB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ITGB3
Additional cDNA sequence: AY826979.1 BC127666.1 BC127667.1 J02703.1 M20311.1 M25108.1 M35999.1 S70348.1 U95204.1
4 DOTS entries : DT.315192 DT.303692
DT.92425123 DT.86852546 24/140 AceView cDNA sequences (see all 140 ):
BE674065 R12504 BF058953 BF115658 BQ437000 BM931908 BU174383 AA320129 NM_000212 BU155897 M25108 BF593562 AA954500 CD364451 BU628207 BM719625 BX482144 R81611 AL702773 BV168221 BX474890 AI139583 M35999 BQ212362 GeneLoc Exon Structure
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Expression for ITGB3 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ITGB3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image ITGB3 expression in embryonic tissues and stem cells About this table See ITGB3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ITGB3 SOURCE GeneReport for Unigene cluster: Hs.218040 UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Tissue specificity : Isoform beta-3A and isoform beta-3C are widely expressed. Isoform beta-3A is specifically expressedin osteoblast cells; isoform beta-3C is specifically expressed in prostate and testis SABiosciences Expression via Pathway-Focused PCR Arrays including ITGB3 (see all 9 ): Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB3
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Orthologsfor ITGB3 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for ITGB3 gene from 6/17 species (see all 17 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves ITGB31
integrin, beta 3 (platelet glycoprotein IIIa, antigen more
78.66(n) 82.66(a)
374209 NM_204315.1 NP_989646.1
lizard Reptilia ITGB36
--
82(a) 67(a)
1 ↔ manypossible ortholog
6(65791773-65817906) AAWZ02040349(988-1653)
African clawed frog Amphibia LOC3976992
integrin beta-3 subunit
75.8(n)
L13591.1
zebrafish Actinopterygii itgb3b1
integrin beta 3b
68.71(n) 70.89(a)
100001836 NM_001082948.1 NP_001076417.1
fruit fly Insecta mys3
central nervous system developmentmore
42(a)
--
worm Secernentea pat-33
beta integrin
38(a)
III(3981133-3985933) --
ENSEMBL Gene Tree for ITGB3 (if available)TreeFam Gene Tree for ITGB3 (if available)
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Paralogsfor ITGB3 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ITGB3 gene ITGB4 2 ITGB1 2 ENSG00000259753 2 ITGB2 2 ITGB7 2 ITGBL1 2 ITGB8 2 ITGB6 2 ITGB5 2 9 SIMAP similar genes for ITGB3 using alignment to 14 protein entries: ITB3_HUMAN (see all proteins ):integrin beta 3 ITGB5 ITGB6 ITGB7 ITGB8 ITGB1 ITGB2 ITGB4 TENM2 About GeneDecksing
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Genomic Variantsfor ITGB3 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Polymorphism : Position 59 is associated with platelet-specific alloantigen HPA-1 (ZW or PL(A)). HPA-1A/ZW(A)/PL(A1) hasLeu-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) Polymorphism : 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) Polymorphism : Position 433 is associated with platelet-specific alloantigen MO. MO(-) has Pro-433 and MO(+) hasAla-433. MO(+) is involved in NAIT Polymorphism : Position 515 is associated with platelet-specific alloantigen CA/TU. CA(-)/TU(-) has Arg-515 andCA(+)/TU(+) has Gln-515. CA(+) is involved in NAIT Polymorphism : Position 662 is associated with platelet-specific alloantigen SR(A). SR(A)(-) has Arg-662 and SR(A)(+)has Cys-662
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 17 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for ITGB3 (45331208 - 45421658 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ITGB3: -- Human Gene Mutation Database (HGMD) : ITGB3 Locus Specific Mutation Databases (LSDB): ITGB3 SABiosciences Cancer Mutation PCR Assays
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Disorders
/ Diseasesfor ITGB3 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 173470
OMIM disorders : --UniProtKB/Swiss-Prot: ITB3_HUMAN, P05106 Defects in ITGB3 are a cause of Glanzmann thrombasthenia (GT) [MIM:273800]; also known as thrombasthenia of Glanzmann and Naegeli. GT is the most common inherited disease of platelets. It is an autosomal recessive disorder characterized by mucocutaneous bleeding of mild-to-moderate severity and the inability of this integrin to recognize macromolecular or synthetic peptide ligands. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb/beta-3 complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the glycoprotein IIb/beta-3 complex at reduced levels (5-20% controls), have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. The platelets of GT 'variants' have normal or near normal (60-100%) expression of dysfunctional receptors 20/154 (see all 154 ): About MalaCards carotid intimal medial thickness glanzmann's thrombasthenia glanzmann thrombasthenia, type b heparin-induced thrombocytopenia neonatal alloimmune thrombocytopenia fetal and neonatal alloimmune thrombocytopenia thrombotic thrombocytopenic purpura cleft lip/palate central retinal artery occlusion retinal artery occlusion deep vein thrombosis thrombasthenia polycythemia vera patent ductus arteriosus wiskott-aldrich syndrome hemorrhagic fever autoimmune thrombocytopenic purpura von willebrand's disease dengue hemorrhagic fever ischemic optic neuropathy 8 diseases from the University of Copenhagen DISEASES database for ITGB3 :Glanzmann's thrombasthenia Thrombocytopenia Myelofibrosis Autoimmune thrombocytopenic purpura Bernard-Soulier syndrome Leukemia Myocardial infarction Coronary heart disease 10/46 Novoseek disease relationships for ITGB3 gene (see all 46 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
glanzmann thrombasthenia
93.7
24
20020534 (2), 1635160 (1), 8201919 (1), 2014236 (1) (see all 23 )
coagulopathy
60.8
3
20020534 (1), 9160670 (1), 9695977 (1)
thrombocytopenia
59.2
15
18070277 (2), 8541531 (1), 10859334 (1), 18208809 (1) (see all 11 )
erythroleukemia
55.6
3
8876221 (1), 7662966 (1)
coronary thrombosis
41.8
3
10589700 (1), 11028489 (1), 10521390 (1)
arterial thrombosis
38.6
2
15166939 (1), 16793667 (1)
thrombosis
33.6
3
18208809 (2), 15166939 (1)
purpura thrombocytopenic idiopathic
31.3
1
17272505 (1)
purpura thrombocytopenic
30.9
2
10697532 (1)
myeloproliferative disorders
27.1
1
8819897 (1)
Genatlas disease: ITGB3 Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency) Genetic Association Database (GAD): ITGB3 Human Genome Epidemiology (HuGE) Navigator: ITGB3 (269 documents) Export disorders for ITGB3 gene to outside databases
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Publicationsfor ITGB3 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ITGB3 gene, integrated from 9 sources (see all 1088 ):(articles sorted by number of sources associating them with ITGB3) Utopia : connect your pdf to the dynamic
A new platelet polymorphism Duv(a+), localized within the RGD binding domain of glycoprotein IIIa, is associated with neonatal thrombocytopenia. (PubMed id 12036875) 1 , 2 , 4(2002) Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample. (PubMed id 15834589) 1 , 4, 9(2005) An amino acid polymorphism within the RGD binding domain of platelet membrane glycoprotein IIIa is responsible for the formation of the Pena/Penb alloantigen system. (PubMed id 1430225) 1 , 2 , 9(1992) A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males. (PubMed id 15178823) 1 , 4, 9(2004) Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. (PubMed id 10233432) 1 , 2 , 9(1999) A point mutation leads to an unpaired cysteine residue and a molecular weight polymorphism of a functional platelet beta 3 integrin subunit. The Sra alloantigen system of GPIIIa. (PubMed id 8132570) 1 , 2 , 9(1994) Amino acid 489 is encoded by a mutational 'hot spot' on the beta 3 integrin chain: the CA/TU human platelet alloantigen system. (PubMed id 7694683) 1 , 2 , 9(1993) Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations. (PubMed id 15817799) 1 , 4, 9(2005) GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs. (PubMed id 2345548) 1 , 2 , 9(1990) The genomic organization of platelet glycoprotein IIIa. (PubMed id 2341395) 1 , 2 , 9(1990)
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External Searches for ITGB3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ITGB3 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ITGB3 gene
(According to HUGE )
About This Section --
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Specialized Databases showing ITGB3 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for ITGB3 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for ITGB3Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB3 SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ITGB3
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About This Section Patent Information for ITGB3 gene: ITGB3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ITGB3 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ITGB3 OriGene shRNA RFP for ITGB3 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for ITGB3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ITGB3 OriGene 3'-UTR Clone for ITGB3 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for ITGB3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ITGB3 OriGene Custom Protein Services for ITGB3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ITGB3 Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITGB3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGB3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Antibodies & Assays for ITGB3
Tocris compounds for ITGB3
ITGB3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB3
ThermoFisher Antibodies for ITGB3
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ITGB3
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summary
for 
and Proteopedia 
for ITGB3 (
BioSystems Pathways for ITGB3 (
PharmGKB Pathways for 
Kegg Pathways 
Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Anatomical Compartment 
Negative
In-situ hybridization
