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ITGA2 integrin subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 3673, updated on 3-Jun-2018
Official Symbol
ITGA2provided by HGNC
Official Full Name
integrin subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:6137
See related
Ensembl:ENSG00000164171 MIM:192974; Vega:OTTHUMG00000131165
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BR; GPIa; CD49B; HPA-5; VLA-2; VLAA2
Summary
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]
Expression
Broad expression in skin (RPKM 8.4), adrenal (RPKM 7.9) and 21 other tissues See more
Orthologs
See ITGA2 in Genome Data Viewer
Location:
5q11.2
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (52989326..53094779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52285156..52390609)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 1 Neighboring gene pelota mRNA surveillance and ribosome rescue factor Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 1 Neighboring gene uncharacterized LOC257396 Neighboring gene molybdenum cofactor synthesis 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Platelet-type bleeding disorder 9
MedGen: C3280114 OMIM: 614200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
  • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 trafficking events, organism-specific biosystem
    Arf6 trafficking events
  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
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  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
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  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
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  • Axon guidance, organism-specific biosystem (from REACTOME)
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  • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CXCR4-mediated signaling events, organism-specific biosystem
    CXCR4-mediated signaling events
  • Developmental Biology, organism-specific biosystem (from REACTOME)
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  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Interleukin-11 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Interleukin-11 Signaling Pathway, organism-specific biosystemIL-11 is a multifunctional cytokine that belongs to the gp130 family. It was first isolated from a primate bone marrow derived cell line, PU-34 for its ability to stimulate the proliferation of a pla...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Laminin interactions, organism-specific biosystem (from REACTOME)
    Laminin interactions, organism-specific biosystemLaminins are a large family of conserved, multidomain trimeric basement membrane proteins. There are many theoretical trimer combinations but only 18 have been described (Domogatskaya et al. 2012, Mi...
  • MET activates PTK2 signaling, organism-specific biosystem (from REACTOME)
    MET activates PTK2 signaling, organism-specific biosystemMET receptor activates the focal adhesion kinase PTK2 (FAK1) in a process that depends on the simultaneous interaction of PTK2 with integrins and with MET. SRC is needed for PTK2 to become fully acti...
  • MET promotes cell motility, organism-specific biosystem (from REACTOME)
    MET promotes cell motility, organism-specific biosystemDirect and indirect interactions of MET with integrins, focal adhesion kinase PTK2 (FAK1), tensin-4 (TNS4) and GTPases RAP1 and RAC1, induce morphological changes that promote cell motility and play ...
  • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
    Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
    Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. It is not entirely ...
  • Platelet activation, organism-specific biosystem (from KEGG)
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  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
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  • Proteoglycans in cancer, conserved biosystem (from KEGG)
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  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Signal Transduction, organism-specific biosystem (from REACTOME)
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  • Signaling by MET, organism-specific biosystem (from REACTOME)
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  • Small cell lung cancer, organism-specific biosystem (from KEGG)
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  • Small cell lung cancer, conserved biosystem (from KEGG)
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  • Syndecan interactions, organism-specific biosystem (from REACTOME)
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  • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-2-mediated signaling events, organism-specific biosystem
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  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
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  • VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem (from Pathway Interaction Database)
    VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen binding involved in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
heparan sulfate proteoglycan binding TAS
Traceable Author Statement
more info
PubMed 
integrin binding IEA
Inferred from Electronic Annotation
more info
 
laminin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell adhesion mediated by integrin IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-substrate adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
collagen-activated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of mechanical stimulus involved in sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
hepatocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
hypotonic response IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland development IEA
Inferred from Electronic Annotation
more info
 
mesodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alkaline phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell projection organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of collagen binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phagocytosis, engulfment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of translation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
response to L-ascorbic acid IEA
Inferred from Electronic Annotation
more info
 
response to amine IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
response to parathyroid hormone IEA
Inferred from Electronic Annotation
more info
 
skin morphogenesis IEA
Inferred from Electronic Annotation
more info
 
substrate-dependent cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon terminus IEA
Inferred from Electronic Annotation
more info
 
basal part of cell IEA
Inferred from Electronic Annotation
more info
 
cell surface HDA PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integrin alpha2-beta1 complex IDA
Inferred from Direct Assay
more info
PubMed 
integrin complex TAS
Traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
integrin alpha-2
Names
CD49 antigen-like family member B
alpha 2 subunit of VLA-2 receptor
collagen receptor
human platelet alloantigen system 5
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
platelet antigen Br
platelet glycoprotein GPIa
platelet membrane glycoprotein Ia
very late activation protein 2 receptor, alpha-2 subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008330.1 RefSeqGene

    Range
    5001..110454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002203.3NP_002194.2  integrin alpha-2 precursor

    See identical proteins and their annotated locations for NP_002194.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC008966, AU126174, BE048389, BF355124, BG288116, BG494837, BG771368, BM828183, BM979113, BP280760, BP381403, CA442768, CK904145, CN272390, DA343078, DA545055, X17033
    Consensus CDS
    CCDS3957.1
    UniProtKB/Swiss-Prot
    P17301
    Related
    ENSP00000296585.5, OTTHUMP00000161816, ENST00000296585.9, OTTHUMT00000253857
    Conserved Domains (3) summary
    smart00191
    Location:551604
    Int_alpha; Integrin alpha (beta-propellor repeats)
    cd01469
    Location:173353
    vWA_integrins_alpha_subunit; Integrins are a class of adhesion receptors that link the extracellular matrix to the cytoskeleton and cooperate with growth factor receptors to promote celll survival, cell cycle progression and cell migration. Integrins consist of an alpha and a beta ...
    pfam08441
    Location:6551060
    Integrin_alpha2; Integrin alpha

RNA

  1. NR_073103.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143505, BP280760, CK904145, X17033
  2. NR_073104.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143508, BP280760, CK904145, X17033
  3. NR_073105.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143509, BP280760, CK904145, X17033
  4. NR_073106.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, BC143511, BP280760, CK904145, X17033
  5. NR_073107.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008966, AK307952, BC143512, BP280760, CK904145, X17033

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    52989326..53094779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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