Human Gene ITGB3 (uc002ili.1) Description and Page Index
  Description: Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.
RefSeq Summary (NM_000212): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M35999.1, M20311.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:45,331,208-45,368,565 Size: 37,358 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr17:45,331,228-45,368,526 Size: 37,299 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:45,331,208-45,368,565)mRNA (may differ from genome)Protein (443 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: I3L4X8_HUMAN
DESCRIPTION: RecName: Full=Integrin beta;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (By similarity).
SIMILARITY: Belongs to the integrin beta chain family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ITGB3
CDC HuGE Published Literature: ITGB3
Positive Disease Associations: aspirin resistance , asthma IgE wheezing , asthma; allergy , Asthma| , atherosclerosis, coronary , autism , breast cancer , breast cancer ovarian cancer , cancer , cancer. , cardiovascular , diabetes, type 2 , double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa , fetal loss, early , Forced Expiratory Volume , fracture risk , Glanzmann thrombasthenia , heart disease, ischemic; peripheral vascular disease , Hypertension , Hypertension|Kidney Failure, Chronic , Increased platelet aggregability , kidney cancer , lipoprotein , lung cancer , myocardial infarct; cardiovascular disease , myocardial infarction , neonatal thrombocytopenia , premature myocardial infarction in men. , Resistance in vitro to low-dose aspirin , stroke , stroke, ischemic , Waist-Hip Ratio
Related Studies:
  1. aspirin resistance
    Macchi, L. et al. 2003, Resistance in vitro to low-dose aspirin is associated with platelet PlA1 (GP IIIa) polymorphism but not with C807T(GP Ia/IIa) and C-5T Kozak (GP Ibalpha) polymorphisms., Journal of the American College of Cardiology. 2003 Sep;42(6):1115-9. [PubMed 13678940]
    Platelets homozygous for the Pl(A1) allele appear to be less sensitive to inhibitory action of low-dose aspirin. This differential sensitivity to aspirin may have potential clinical implications whereby specific antiplatelet therapy may be best tailored according to the patient's Pl(A) genotype.
  2. asthma IgE wheezing
    Thompson, E. E. et al. 2007, Integrin beta3 genotype influences asthma and allergy phenotypes in the first 6 years of life, J Allergy Clin Immunol 2007 119(6) 1423-9. [PubMed 17556058]
    Our results suggest that genetic variation in ITGB3 contributes to asthma susceptibility and allergic sensitization, and that the effects of this gene begin early in life.
  3. asthma; allergy
    Weiss, L. A. et al. 2005, Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations., American journal of respiratory and critical care medicine. 2005 Jul;172(1):67-73. [PubMed 15817799]
    This study provides evidence that ITGB3 plays a role in the pathogenesis of asthma and sensitization to mold allergens.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ITGB3
Diseases sorted by gene-association score: glanzmann thrombasthenia* (1639), bleeding disorder, platelet-type, 16, autosomal dominant* (1200), myocardial infarction* (434), autosomal dominant macrothrombocytopenia* (175), thrombocytopenia, neonatal alloimmune* (125), thrombasthenia of glanzmann and naegeli, itgb3-related* (100), fetal and neonatal alloimmune thrombocytopenia* (43), thrombasthenia (29), arteritic anterior ischemic optic neuropathy (23), west nile virus (22), coronary thrombosis (21), thrombocytopenia (20), purpura (16), phimosis (10), thrombocytopenic purpura, autoimmune (10), sticky platelet syndrome (9), clopidogrel resistance (9), echolalia (8), primary thrombocytopenia (8), insulin-like growth factor i (8), sudden sensorineural hearing loss (8), autoimmune disease of blood (7), ischemic optic neuropathy (6), nodular malignant melanoma (6), sympathetic ophthalmia (6), hemorrhagic fever with renal syndrome (6), infective endocarditis (6), inherited blood coagulation disease (5), myeloproliferative syndrome, transient (5), blood coagulation disease (5), blood platelet disease (5), hemorrhagic disease (5), bernard-soulier syndrome, type c (4), hiv-1 (3), essential thrombocythemia (2), autism spectrum disorder (1), myelofibrosis with myeloid metaplasia, somatic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.02 RPKM in Thyroid
Total median expression: 206.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.2020-0.410 Picture PostScript Text
3' UTR -0.6039-0.015 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015812 - Integrin_bsu
IPR002369 - Integrin_bsu_N
IPR003659 - Plexin-like
IPR016201 - Plexin-like_fold
IPR002035 - VWF_A

Pfam Domains:
PF00362 - Integrin beta chain VWA domain
PF17205 - Integrin plexin domain

SCOP Domains:
69179 - Integrin domains
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on I3L4X8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding

Biological Process:
GO:0007155 cell adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0070527 platelet aggregation

Cellular Component:
GO:0008305 integrin complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF213994 - JP 2014500723-A/21497: Polycomb-Associated Non-Coding RNAs.
LF209388 - JP 2014500723-A/16891: Polycomb-Associated Non-Coding RNAs.
KC120777 - Homo sapiens beta 3 integrin A1410 insertion mutant (ITGB3) mRNA, complete cds.
KC120778 - Homo sapiens beta 3 integrin G392C mutant (ITGB3) mRNA, complete cds.
BC127666 - Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61), mRNA (cDNA clone MGC:157710 IMAGE:40128462), complete cds.
BC127667 - Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61), mRNA (cDNA clone MGC:157711 IMAGE:40128464), complete cds.
E06949 - DNA sequence encoding platelet Glycoprotein III a which has Yuka antigen.
J02703 - Human endothelial membrane glycoprotein IIIa (GPIIIa) mRNA, complete cds.
LP896054 - Sequence 918 from Patent EP3253886.
M35999 - Human platelet glycoprotein IIIa (GPIIIa) mRNA, complete cds.
M20311 - Human platelet membrane glycoprotein IIIa beta subunit mRNA, complete cds.
AY826979 - Homo sapiens truncated integrin beta 3 mRNA, complete cds.
AB587392 - Synthetic construct DNA, clone: pF1KB5616, Homo sapiens ITGB3 gene for integrin, beta 3, without stop codon, in Flexi system.
U95204 - Homo sapiens platelet membrane glycoprotein IIIa beta subunit mRNA, complete cds.
AK300424 - Homo sapiens cDNA FLJ58126 complete cds, highly similar to Integrin beta-3 precursor.
MA449571 - JP 2018138019-A/21497: Polycomb-Associated Non-Coding RNAs.
MA444965 - JP 2018138019-A/16891: Polycomb-Associated Non-Coding RNAs.
LF212464 - JP 2014500723-A/19967: Polycomb-Associated Non-Coding RNAs.
MA448041 - JP 2018138019-A/19967: Polycomb-Associated Non-Coding RNAs.
LF328141 - JP 2014500723-A/135644: Polycomb-Associated Non-Coding RNAs.
LF328142 - JP 2014500723-A/135645: Polycomb-Associated Non-Coding RNAs.
LF328144 - JP 2014500723-A/135647: Polycomb-Associated Non-Coding RNAs.
LF328147 - JP 2014500723-A/135650: Polycomb-Associated Non-Coding RNAs.
LF328148 - JP 2014500723-A/135651: Polycomb-Associated Non-Coding RNAs.
LF328149 - JP 2014500723-A/135652: Polycomb-Associated Non-Coding RNAs.
S70348 - Homo sapiens integrin beta 3 mRNA, partial cds, alternatively spliced.
MA563718 - JP 2018138019-A/135644: Polycomb-Associated Non-Coding RNAs.
MA563719 - JP 2018138019-A/135645: Polycomb-Associated Non-Coding RNAs.
MA563721 - JP 2018138019-A/135647: Polycomb-Associated Non-Coding RNAs.
MA563724 - JP 2018138019-A/135650: Polycomb-Associated Non-Coding RNAs.
MA563725 - JP 2018138019-A/135651: Polycomb-Associated Non-Coding RNAs.
MA563726 - JP 2018138019-A/135652: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction
hsa04640 - Hematopoietic cell lineage
hsa04810 - Regulation of actin cytoskeleton
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

BioCarta from NCI Cancer Genome Anatomy Project
h_edg1Pathway - Phospholipids as signalling intermediaries
h_ucalpainPathway - uCalpain and friends in Cell spread

-  Other Names for This Gene
  Alternate Gene Symbols: AY826979, I3L4X8, I3L4X8_HUMAN, NM_000212, NP_000203
UCSC ID: uc002ili.1
RefSeq Accession: NM_000212
Protein: I3L4X8

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY826979.1
exon count: 9CDS single in 3' UTR: no RNA size: 1381
ORF size: 1332CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2857.00frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 111# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.