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    ITGA2B integrin subunit alpha 2b [ Homo sapiens (human) ]

    Gene ID: 3674, updated on 17-Jun-2024

    Summary

    Official Symbol
    ITGA2Bprovided by HGNC
    Official Full Name
    integrin subunit alpha 2bprovided by HGNC
    Primary source
    HGNC:HGNC:6138
    See related
    Ensembl:ENSG00000005961 MIM:607759; AllianceGenome:HGNC:6138
    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
    GT; GT1; GTA; CD41; GP2B; HPA3; CD41B; GPIIb; BDPLT2; BDPLT16; PPP1R93
    Summary
    This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in bone marrow (RPKM 6.2), testis (RPKM 1.4) and 8 other tissues See more
    Orthologs
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    Genomic context

    See ITGA2B in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44372181..44389649, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45226172..45243631, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42449549..42467017, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438205-42438805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438806-42439405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8592 Neighboring gene family with sequence similarity 171 member A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42446497-42446996 Neighboring gene RPL7L1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42452529-42453106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42456825-42457781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42474848-42475348 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42477560-42478023 Neighboring gene G-patch domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42498551-42499524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42588763-42589328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42610782-42611286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42611287-42611790 Neighboring gene uncharacterized LOC105371791

    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

    Associated conditions

    Description Tests
    Glanzmann thrombasthenia 1
    MedGen: CN300358 OMIM: 273800 GeneReviews: Not available
    Compare labs
    Platelet-type bleeding disorder 16
    MedGen: C5442010 OMIM: 187800 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibrinogen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway HDA PubMed 
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cell surface HDA PubMed 
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    part_of integrin alphaIIb-beta3 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in platelet alpha granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    integrin alpha-IIb
    Names
    GPalpha IIb
    alphaIIb protein
    integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
    platelet fibrinogen receptor, alpha subunit
    platelet glycoprotein IIb of IIb/IIIa complex
    platelet membrane glycoprotein IIb
    platelet-specific antigen BAK
    protein phosphatase 1, regulatory subunit 93

    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_008331.1 RefSeqGene

      Range
      5001..22324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_479

    mRNA and Protein(s)

    1. NM_000419.5NP_000410.2  integrin alpha-IIb preproprotein

      See identical proteins and their annotated locations for NP_000410.2

      Status: REVIEWED

      Source sequence(s)
      AC007722, BE409167, BM148153, CD175774, J02764, X06831
      Consensus CDS
      CCDS32665.1
      UniProtKB/Swiss-Prot
      B2RCY8, O95366, P08514, Q14443, Q17R67
      Related
      ENSP00000262407.5, ENST00000262407.6
      Conserved Domains (3) summary
      smart00191
      Location:384438
      Int_alpha; Integrin alpha (beta-propellor repeats)
      pfam00357
      Location:10201034
      Integrin_alpha; Integrin alpha cytoplasmic region
      pfam08441
      Location:481921
      Integrin_alpha2; Integrin alpha

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44372181..44389649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524749.2XP_011523051.2  integrin alpha-IIb isoform X1

    2. XM_011524750.2XP_011523052.2  integrin alpha-IIb isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45226172..45243631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315956.1XP_054171931.1  integrin alpha-IIb isoform X1

    2. XM_054315957.1XP_054171932.1  integrin alpha-IIb isoform X2