Human Gene ITGA2 (uc011cqc.2)
  Description: Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), transcript variant 6, non-coding RNA.
RefSeq Summary (NR_073107): This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
Transcript (Including UTRs)
   Position: hg19 chr5:52,285,156-52,390,609 Size: 105,454 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr5:52,337,985-52,386,429 Size: 48,445 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:52,285,156-52,390,609)mRNA (may differ from genome)Protein (1105 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeTreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ITA2_HUMAN
DESCRIPTION: RecName: Full=Integrin alpha-2; AltName: Full=CD49 antigen-like family member B; AltName: Full=Collagen receptor; AltName: Full=Platelet membrane glycoprotein Ia; Short=GPIa; AltName: Full=VLA-2 subunit alpha; AltName: CD_antigen=CD49b; Flags: Precursor;
FUNCTION: Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix.
SUBUNIT: Heterodimer of an alpha and a beta subunit. Alpha-2 associates with beta-1. Interacts with HPS5 and RAB21. Binds to human echoviruses 1 and 8 capsid proteins and acts as a receptor for these viruses. Interacts (via ITAG2 I-domain) with rotavirus A VP4; this interaction only occurs in rotavirus integrin-dependent strains, for which ITGA2 acts as a receptor.
INTERACTION: P05556:ITGB1; NbExp=3; IntAct=EBI-702960, EBI-703066; P35282:Rab21 (xeno); NbExp=7; IntAct=EBI-702960, EBI-1993555; Q9H0F6:SHARPIN; NbExp=5; IntAct=EBI-702960, EBI-3942966;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DOMAIN: The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
POLYMORPHISM: Position 534 is associated with platelet-specific alloantigen HPA-5 (Br). HPA-5A/Br(a) has Lys-534 and HPA-5B/Br(b) has Glu-534. HPA-5B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP). The Lys-534-Glu polymorphism may play a role in coronary artery disease (CAD).
SIMILARITY: Belongs to the integrin alpha chain family.
SIMILARITY: Contains 7 FG-GAP repeats.
SIMILARITY: Contains 1 VWFA domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA2";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/itga2/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ITGA2
CDC HuGE Published Literature: ITGA2
Positive Disease Associations: atherosclerosis, coronary; hematology indices , Behcet's Disease , bleeding complications , cardiovascular mortality , diabetes, type 2 , diabetic retinopathy , double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa , Glomerulonephritis, IGA , hypertension , intima-media thickness; carotid plaque , limb deficiency anomalies , myocardial infarct , myocardial infarction , myocardial infarction; angina , oral cancer , platelet alpha2 beta1 density , premature myocardial infarction in men. , stroke, ischemic , thrombocytopenic purpura, iimmune , thrombosis, deep vein; Behcet's disease , variation in platelet integrin alpha 2 beta 1 density , Vascular Disease
Related Studies:
  1. atherosclerosis, coronary; hematology indices
    Ajzenberg, N. et al. 2005, Association of the -92C/G and 807C/T polymorphisms of the alpha2 subunit gene with human platelets alpha2beta1 receptor density., Arteriosclerosis, thrombosis, and vascular biology. 2005 Aug;25(8):1756-60. [PubMed 15947241]
    These results suggest that an individual effect of each polymorphism located either in the coding or promoter sequence of the alpha2 gene may act in combination to modulate variations in platelets alpha2beta1 receptor density.
  2. Behcet's Disease
    Polat G et al. 2002, Association of the platelet glycoprotein Ia C807T/G873A gene polymorphism and thrombosis in Behcet patients., Haematologia. 2002 ;32(2):121-8. [PubMed 12412731]
    Our data indicate hat patients with BD are affected by the glycoprotein Ia gene 807TT genotypes and carrying 807T allele. The risk of thrombosis is significantly higher in patients who have 807TT and 807CT genotypes than in patients who have 807CC genotype.
  3. bleeding complications
    Welsby, I. J. et al. 2005, Genetic factors contribute to bleeding after cardiac surgery., Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12. [PubMed 15892865]
    We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ITGA2
Diseases sorted by gene-association score: glycoprotein ia deficiency* (150), thrombocytopenia (25), fetal and neonatal alloimmune thrombocytopenia* (18), oral hairy leukoplakia (13), glanzmann thrombasthenia (12), thrombasthenia (9), artery disease (9), gingival overgrowth (8), boomerang dysplasia (7), septic arthritis (7), thrombocytopenia due to platelet alloimmunization (7), buerger disease (7), retinal vein occlusion (6), gingival fibromatosis (6), colon carcinoma in situ (6), bernard-soulier syndrome, type c (6), melanoma metastasis (6), primary thrombocytopenia (6), wolfram syndrome 2 (5), coronary artery disease (4), autoimmune disease of blood (4), asthma (2), myocardial infarction (2)
* = 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: 7.49 RPKM in Esophagus - Mucosa
Total median expression: 98.16 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 -101.10250-0.404 Picture PostScript Text
3' UTR -1197.104180-0.286 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
IPR013517 - FG-GAP
IPR013519 - Int_alpha_beta-p
IPR000413 - Integrin_alpha
IPR013649 - Integrin_alpha-2
IPR018184 - Integrin_alpha_C_CS
IPR002035 - VWF_A

Pfam Domains:
PF00092 - von Willebrand factor type A domain
PF00357 - Integrin alpha cytoplasmic region
PF01839 - FG-GAP repeat
PF08441 - Integrin alpha
PF13519 - von Willebrand factor type A domain

SCOP Domains:
69179 - Integrin domains
69318 - Integrin alpha N-terminal domain
53300 - vWA-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AOX - X-ray MuPIT 1DZI - X-ray MuPIT 1PQB - Model 1V7P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P17301
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:0001540 beta-amyloid binding
GO:0001618 virus receptor activity
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0038064 collagen receptor activity
GO:0043236 laminin binding
GO:0043395 heparan sulfate proteoglycan binding
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0098639 collagen binding involved in cell-matrix adhesion

Biological Process:
GO:0001666 response to hypoxia
GO:0002687 positive regulation of leukocyte migration
GO:0006929 substrate-dependent cell migration
GO:0006971 hypotonic response
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007565 female pregnancy
GO:0007596 blood coagulation
GO:0008283 cell proliferation
GO:0009887 animal organ morphogenesis
GO:0010634 positive regulation of epithelial cell migration
GO:0010694 positive regulation of alkaline phosphatase activity
GO:0014070 response to organic cyclic compound
GO:0014075 response to amine
GO:0014850 response to muscle activity
GO:0014911 positive regulation of smooth muscle cell migration
GO:0016032 viral process
GO:0030198 extracellular matrix organization
GO:0030879 mammary gland development
GO:0031346 positive regulation of cell projection organization
GO:0031589 cell-substrate adhesion
GO:0032967 positive regulation of collagen biosynthetic process
GO:0033343 positive regulation of collagen binding
GO:0033591 response to L-ascorbic acid
GO:0033627 cell adhesion mediated by integrin
GO:0038065 collagen-activated signaling pathway
GO:0042060 wound healing
GO:0042493 response to drug
GO:0043388 positive regulation of DNA binding
GO:0043589 skin morphogenesis
GO:0045184 establishment of protein localization
GO:0045727 positive regulation of translation
GO:0045785 positive regulation of cell adhesion
GO:0045987 positive regulation of smooth muscle contraction
GO:0046718 viral entry into host cell
GO:0048041 focal adhesion assembly
GO:0048333 mesodermal cell differentiation
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0050729 positive regulation of inflammatory response
GO:0050927 positive regulation of positive chemotaxis
GO:0050966 detection of mechanical stimulus involved in sensory perception of pain
GO:0051971 positive regulation of transmission of nerve impulse
GO:0060100 positive regulation of phagocytosis, engulfment
GO:0070365 hepatocyte differentiation
GO:0071107 response to parathyroid hormone
GO:0071260 cellular response to mechanical stimulus
GO:0071392 cellular response to estradiol stimulus
GO:0071407 cellular response to organic cyclic compound

Cellular Component:
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0008305 integrin complex
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0034666 integrin alpha2-beta1 complex
GO:0042995 cell projection
GO:0043679 axon terminus
GO:0045178 basal part of cell
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK307952 - Homo sapiens cDNA, FLJ97900.
X17033 - Human mRNA for integrin alpha-2 subunit.
BC143508 - Homo sapiens cDNA clone IMAGE:9052016.
BC143505 - Homo sapiens cDNA clone IMAGE:9052013.
BC143509 - Homo sapiens cDNA clone IMAGE:9052017.
BC143511 - Homo sapiens cDNA clone IMAGE:9052019.
BC143512 - Homo sapiens cDNA clone IMAGE:9052020.
AB385225 - Synthetic construct DNA, clone: pF1KB9467, Homo sapiens ITGA2 gene for integrin alpha-2 precursor, complete cds, without stop codon, in Flexi system.
BC148596 - Synthetic construct Homo sapiens clone IMAGE:100015577, MGC:183102 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2) mRNA, encodes complete protein.
BC156715 - Synthetic construct Homo sapiens clone IMAGE:100062209, MGC:190203 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2) mRNA, encodes complete protein.
JD396235 - Sequence 377259 from Patent EP1572962.
JD548638 - Sequence 529662 from Patent EP1572962.
JD200253 - Sequence 181277 from Patent EP1572962.
JD495213 - Sequence 476237 from Patent EP1572962.
JD224077 - Sequence 205101 from Patent EP1572962.
JD323477 - Sequence 304501 from Patent EP1572962.
JD254071 - Sequence 235095 from Patent EP1572962.
LF209923 - JP 2014500723-A/17426: Polycomb-Associated Non-Coding RNAs.
JD336194 - Sequence 317218 from Patent EP1572962.
JD192476 - Sequence 173500 from Patent EP1572962.
JD392044 - Sequence 373068 from Patent EP1572962.
JD391925 - Sequence 372949 from Patent EP1572962.
JD500216 - Sequence 481240 from Patent EP1572962.
JD214284 - Sequence 195308 from Patent EP1572962.
LF332757 - JP 2014500723-A/140260: Polycomb-Associated Non-Coding RNAs.
JD093513 - Sequence 74537 from Patent EP1572962.
JD501962 - Sequence 482986 from Patent EP1572962.
JD067385 - Sequence 48409 from Patent EP1572962.
JD323833 - Sequence 304857 from Patent EP1572962.
JD353772 - Sequence 334796 from Patent EP1572962.
JD130963 - Sequence 111987 from Patent EP1572962.
JD102069 - Sequence 83093 from Patent EP1572962.
JD185884 - Sequence 166908 from Patent EP1572962.
JD481596 - Sequence 462620 from Patent EP1572962.
JD155945 - Sequence 136969 from Patent EP1572962.
JD366723 - Sequence 347747 from Patent EP1572962.
JD518012 - Sequence 499036 from Patent EP1572962.
MA445500 - JP 2018138019-A/17426: Polycomb-Associated Non-Coding RNAs.
MA568334 - JP 2018138019-A/140260: 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
hsa05200 - Pathways in cancer
hsa05222 - Small cell lung cancer
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein P17301 (Reactome details) participates in the following event(s):

R-HSA-349626 Integrin alpha2beta1 binds laminin-332
R-HSA-2470555 Collagen type X binds Integrin alpha2beta1
R-NUL-2473498 Collagen type XXIII binds Integrin alpha2beta1
R-HSA-2473511 Collagen type XXIII binds Integrin alpha2beta1
R-NUL-2545201 Collagen type X binds integrin alpha2beta1
R-HSA-4085133 LUM (lumican) binds integrin alpha2beta1
R-HSA-4086216 Collagen type VII binds integrin alpha2beta1
R-HSA-4088220 Endorepellin binds alpha2beta1 integrin
R-HSA-114563 Collagen type I binds integrin alpha1beta1, alpha2beta1, alpha10beta1
R-HSA-216040 Collagen type IV networks bind integrins alpha1beta1, alpha2beta1
R-HSA-445088 CHL1 interacts with beta1 integrins
R-HSA-2327695 Collagen types III, IV, V, VI, VIII, IX, XVI bind integrins alpha1beta1 and alpha2beta1
R-NUL-4084908 Collagen type I binds integrin alpha1beta1, alpha2beta1, alpha10beta1
R-NUL-4084922 Collagen type IV binds integrin alpha2beta1, alpha1beta1
R-HSA-2681667 TNC binds Integrin alphaVbeta3, alphaVbeta6, alpha2beta1, alpha7beta1, alpha8beta1, alpha9beta1, alphaXbeta1
R-HSA-2731074 Syndecan-1 binds Integrins alpha2beta1, (alpha6beta4)
R-HSA-216051 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1 bind laminin-111
R-NUL-3907289 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1, alphaVbeta1 bind laminin-111
R-NUL-4084899 Collagen type II binds integrin alpha2beta1, alpha1beta1, alpha11beta1
R-HSA-4084910 Collagen type II binds integrin alpha2beta1, alpha1beta1, alpha11beta1
R-HSA-2467436 AGRN binds Integrins alphaVbeta1 (Other beta1-containing integrins)
R-HSA-3000157 Laminin interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-447041 CHL1 interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000170 Syndecan interactions
R-HSA-1474244 Extracellular matrix organization
R-HSA-109582 Hemostasis
R-HSA-373760 L1CAM interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CD49B, ITA2_HUMAN, NR_073107, P17301, Q14595
UCSC ID: uc011cqc.2
RefSeq Accession: NR_073107
Protein: P17301 (aka ITA2_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_073107.1
exon count: 29CDS single in 3' UTR: no RNA size: 7757
ORF size: 3318CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6726.00frame shift in genome: no % Coverage: 99.88
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: 0# 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.