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

    Gene ID: 3673, updated on 21-Mar-2023

    Summary

    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; AllianceGenome:HGNC:6137
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ITGA2 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (52989352..53094779)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (53817115..53922565)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52285182..52390609)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 1 Neighboring gene B3GNTL1 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 21 Neighboring gene uncharacterized LOC124900974 Neighboring gene MOCS2 divergent transcript Neighboring gene molybdenum cofactor synthesis 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables collagen binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables collagen binding involved in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables collagen receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables laminin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen-activated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of mechanical stimulus involved in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypotonic response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of alkaline phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen binding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of positive chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to L-ascorbic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to parathyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in substrate-dependent cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basal part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alpha2-beta1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    integrin alpha-2
    Names
    CD49 antigen-like family member B
    alpha 2 integrin
    alpha 2 subunit of VLA-2 receptor
    collagen receptor
    glycoprotein Ia
    human platelet alloantigen 5
    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
    very late activation receptor alpha-2 subunit
    very late activation receptor subunit alpha-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008330.2 RefSeqGene

      Range
      5027..110454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1001

    mRNA and Protein(s)

    1. NM_002203.4NP_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, Q14595
      Related
      ENSP00000296585.5, ENST00000296585.10
      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_073103.2 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_073104.2 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_073105.2 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_073106.2 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_073107.2 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: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      52989352..53094779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      53817115..53922565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)