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ITGB2 Gene

protein-coding   GIFtS: 75
GCID: GC21M046305

Integrin, Beta 2 (Complement Component 3 Receptor 3 And...

(Previous names: integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated...)
(Previous symbols: CD18, MFI7)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Integrin, Beta 2 (Complement Component 3 Receptor 3 And 4 Subunit)1 2     MAC-12
CD181 2 3 5     MF172
MFI71 2 3     Cell Surface Adhesion Glycoprotein LFA-1/CR3/P150,959 Beta Subunit
Precursor)2
Cell Surface Adhesion Glycoproteins LFA-1/CR3/P150,95 Subunit Beta2 3     Complement Receptor C3 Beta-Subunit2
Complement Receptor C3 Subunit Beta2 3     Integrin Beta Chain, Beta 22
LAD2 5     Integrin Beta-22
LCAMB2 5     Leukocyte Cell Adhesion Molecule CD182
Integrin, Beta 2 (Antigen CD18 (P95), Lymphocyte Function-Associated
Antigen 1; Macrophage Antigen 1 (Mac-1) Beta Subunit)1
     Leukocyte-Associated Antigens CD18/11A, CD18/11B, CD18/11C2
Cell Surface Adhesion Glycoprotein (LFA-1,CR3,P150,959 Beta Subunit
Precursor)11
     CD18 Antigen3
LFA-12     

External Ids:    HGNC: 61551   Entrez Gene: 36892   Ensembl: ENSG000001602557   OMIM: 6000655   UniProtKB: P051073   

Export aliases for ITGB2 gene to outside databases

Previous GC identifers: GC21M042815 GC21M045162 GC21M045130 GC21M031679


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITGB2 Gene:
The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral
cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta
2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2
combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the
integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling.
Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants
encoding the same protein have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ITGB2 Gene:
ITGB2 (integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)) is a protein-coding gene. Diseases associated with ITGB2 include leukocyte adhesion deficiency type 1, and leukocyte adhesion deficiency. GO annotations related to this gene include protein kinase binding and glycoprotein binding. An important paralog of this gene is ITGB4.

UniProtKB/Swiss-Prot: ITB2_HUMAN, P05107
Function: Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and
alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin
alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and
P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin
alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. Triggers neutrophil transmigration during lung injury through
PTK2B/PYK2-mediated activation

Gene Wiki entry for ITGB2 (CD18) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGB2 gene promoter:
         STAT1   AP-1   p300   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): ITGB2 promoter sequence

   Search Chromatin IP Primers for ITGB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
ITGB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M046305:   GeneLoc Nature:405,311-319
Start:
46,305,868 bp from pter       31,815,297 bp from centromere
End:
46,351,904 bp from pter 31,850,215 bp from centromere
Size:
46,037 bases 34,919 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: M15395
genomic clones: BAC-7B7 Q15C24


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ITB2_HUMAN, P05107 (See protein sequence)
Recommended Name: Integrin beta-2 precursor  
Size: 769 amino acids; 84782 Da
Subunit: Heterodimer of an alpha and a beta subunit. Beta-2 associates with either alpha-L, alpha-M, alpha-X or
alpha-D. Interacts with FGR (By similarity). Interacts with COPS5 and RANBP9
Sequence caution: Sequence=BAD96225.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ITGB2 (see all 12):
1JX3 (3D)        1L3Y (3D)        1YUK (3D)        2JF1 (3D)        2P26 (3D)        2P28 (3D)    
Secondary accessions: B3KTS8 D3DSM1 Q16418 Q53HS5 Q9UD72

Explore the universe of human proteins at neXtProt for ITGB2: NX_P05107

Explore proteomics data for ITGB2 at MOPED

Post-translational modifications: 

  • Both Ser-745 and Ser-756 become phosphorylated when T-cells are exposed to phorbol esters. Phosphorylation on
    Thr-758 (but not on Ser-756) allows interaction with 14-3-3 proteins1
  • Ubiquitination2 at Lys362, Lys379, Lys462, Lys479, Lys561, Lys658, Lys744, Lys755, Lys765
  • Glycosylation2 at Asn50, Asn116, Asn212, Asn213, Asn215, Asn254, Asn501, Asn642
  • Modification sites at PhosphoSitePlus

  • See ITGB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000202.2  NP_001120963.1  

    ENSEMBL proteins: 
     ENSP00000380950   ENSP00000380955   ENSP00000380952   ENSP00000347279   ENSP00000380948  
     ENSP00000427732   ENSP00000317697   ENSP00000428503   ENSP00000428979   ENSP00000428413  
     ENSP00000428125   ENSP00000428434   ENSP00000430901   ENSP00000428870   ENSP00000380944  
     ENSP00000429683   ENSP00000303242  
    Reactome Protein details: P05107

    ITGB2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ITGB2
    OriGene Custom MassSpec
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    GenScript Custom Purified and Recombinant Proteins Services for ITGB2
    Novus Biologicals ITGB2 Proteins
    Novus Biologicals ITGB2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ITGB2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGB2
    R&D Systems Antibodies for ITGB2 (Integrin beta 2/CD18)
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    Novus Biologicals ITGB2 Antibodies
    Abcam antibodies for ITGB2
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    ITGB2 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    ITG: Integrins
    complement: Complement system

    Selected InterPro protein domains (see all 7):
     IPR002369 Integrin_bsu_N
     IPR012896 Integrin_bsu_tail
     IPR015812 Integrin_bsu
     IPR014836 Integrin_bsu_cyt_dom
     IPR016201 Plexin-like_fold

    Graphical View of Domain Structure for InterPro Entry P05107

    ProtoNet protein and cluster: P05107

    3 Blocks protein domains:
    IPB001169 Integrin beta
    IPB002035 Von Willebrand factor type A domain signature
    IPB002369 Integrin beta subunit signature


    UniProtKB/Swiss-Prot: ITB2_HUMAN, P05107
    Similarity: Belongs to the integrin beta chain family
    Similarity: Contains 1 VWFA domain


    ITGB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITB2_HUMAN, P05107
    Function: Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and
    alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin
    alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and
    P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin
    alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. Triggers neutrophil transmigration during lung injury through
    PTK2B/PYK2-mediated activation

         Genatlas biochemistry entry for ITGB2:
    integrin,beta 2,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other
    cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within
    cells,expressed in leukocytes,common component of LFA-1,Mac-1 and p150,95 antigens

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI16831868
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI17321526
    GO:0019901protein kinase binding IPI12885943
    GO:0046872metal ion binding IEA--
         
    ITGB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITGB2:
     Decreased Salmonella enterica  

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Itgb2):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  normal  pigmentation  skeleton 
     vision/eye 

    ITGB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ITGB2: Itgb2tm1Bay Itgb2tm2Bay

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITGB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITGB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITGB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITGB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITGB2:
    hsa-mir-26b-5p (MIRT028899), hsa-mir-146a-5p (MIRT021220), hsa-mir-335-5p (MIRT016972)

    Block miRNA regulation of human, mouse, rat ITGB2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ITGB2
    SwitchGear 3'UTR luciferase reporter plasmidITGB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITGB2
    Predesigned siRNA for gene silencing in human, mouse, rat ITGB2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITGB2

    Clone
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    OriGene clones in human, mouse for ITGB2 (see all 11)
    OriGene ORF clones in mouse, rat for ITGB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ITGB2 (NM_000211)
    Sino Biological Human cDNA Clone for ITGB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITB2_HUMAN, P05107: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    cytosol2
    extracellular2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008305integrin complex NAS12885943
    GO:0016020membrane ----
    GO:0043235receptor complex IDA--
    GO:0070062extracellular vesicular exosome IDA--

    ITGB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ITGB2 About   (see all 48)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal Adhesion0.65
    HGF Pathway0.34
    Integrin-mediated cell adhesion0.38
    2Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    3Apoptotic Pathways in Synovial Fibroblasts
    PPAR Pathway0.66
    Actin-Based Motility by Rho Family GTPases0.62
    Rac1 Pathway0.65
    Rap1 Pathway0.57
    Glioma Invasiveness0.64
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ITGB2 (see all 35)
        RhoA Pathway
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    CDK5 Pathway
    Tec Kinases Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ITGB2 (see all 6)
        Immune response Alternative complement pathway
    Cell adhesion Integrin inside-out signaling
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response Classical complement pathway
    Immune response Role of integrins in NK cells cytotoxicity

    Selected BioSystems Pathways for ITGB2 (see all 7)
        Focal Adhesion
    Integrin-mediated cell adhesion
    IL-5 Signaling Pathway
    amb2 Integrin signaling
    CXCR3-mediated signaling events


    4 Reactome Pathways for ITGB2
        Integrin cell surface interactions
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Toll Like Receptor 4 (TLR4) Cascade
    Cell surface interactions at the vascular wall


    Selected Kegg Pathways  (Kegg details for ITGB2) (see all 17):
        Rap1 signaling pathway
    Phagosome
    Hippo signaling pathway
    Cell adhesion molecules (CAMs)
    Natural killer cell mediated cytotoxicity


    ITGB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB2 (see all 11): 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Multiple Sclerosis in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ITGB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ITGB2 (P051071, 2, 3 ENSP000003032424) via UniProtKB, MINT, STRING, and/or I2D (see all 162)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-300173,EBI-375543 MINT-7226083 MINT-7226063 MINT-7226073 MINT-7226098 I2D: score=1 STRING: ENSP00000361423
    RDXP352411, 2, 3, ENSP000003428304EBI-300173,EBI-2514878 MINT-4652127 MINT-4652107 I2D: score=2 STRING: ENSP00000342830
    RANBP9Q96S592, 3, ENSP000000116194MINT-50055 MINT-50069 MINT-50052 MINT-50054 I2D: score=4 STRING: ENSP00000011619
    CYTH1Q154382, 3, ENSP000003543984MINT-4652150 I2D: score=5 STRING: ENSP00000354398
    VAV1P154982, 3, ENSP000003022694MINT-7226634 I2D: score=1 STRING: ENSP00000302269
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0006915apoptotic process NAS12885943
    GO:0006954inflammatory response NAS12885943
    GO:0007155cell adhesion TAS1694220
    GO:0007159leukocyte cell-cell adhesion IDA12885943

    ITGB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITGB2 (ITB2)

    1 HMDB Compound for ITGB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Simvastatin(+)-Simvastatin (see all 28)79902-63-9--

    1 DrugBank Compound for ITGB2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SimvastatinSimvastatin [Usan:Ban:Inn] (see all 4)79902-63-9targetother15936988 16828882 15041742 17289088

    Selected Novoseek inferred chemical compound relationships for ITGB2 gene (see all 114)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fmlp 75.1 44 7525325 (5), 16249234 (4), 8100744 (3), 8104223 (2) (see all 23)
    lfa703 70.8 2 15161667 (1)
    n-formylmethionyl-leucylphenylalanine 62.9 16 7525325 (5), 9142928 (1), 10625005 (1), 15454120 (1) (see all 7)
    phorbol 59.4 5 1850304 (1), 10779523 (1), 7622590 (1), 16099426 (1) (see all 5)
    slex 58.8 11 8547121 (1), 12580864 (1), 7487990 (1), 8740264 (1) (see all 10)
    dexamethasone 21-isonicotinate 56.2 1 15099507 (1)
    fibrinogen 50.3 45 12665127 (4), 10845911 (4), 10510057 (3), 1309032 (2) (see all 22)
    cytochalasin b 48.3 1 8914597 (1)
    cuprophan 48 7 8455364 (2), 7503138 (1), 8770974 (1), 11549901 (1)
    kininogen 43.3 5 8034694 (1), 16902163 (1), 10845911 (1), 10515875 (1)



    ITGB2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ITGB2 gene (2 alternative transcripts): 
    NM_000211.3  NM_001127491.1  

    Unigene Cluster for ITGB2:

    Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
    Hs.375957  [show with all ESTs]
    Unigene Representative Sequence: NM_000211
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000475170 ENST00000397852(uc002zgd.2) ENST00000397857 ENST00000397854
    ENST00000498666 ENST00000355153(uc002zgg.2) ENST00000397850(uc002zgf.3 uc011afl.1 uc010gpw.2)
    ENST00000523323 ENST00000479202 ENST00000320216 ENST00000521987 ENST00000523663
    ENST00000522931 ENST00000517563 ENST00000522688 ENST00000520389 ENST00000524251
    ENST00000517819
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ITGB2

    Additional mRNA sequence: 

    AK095992.1 AK097864.1 AK128344.1 AK222505.1 AK303488.1 BC005861.2 BC021077.1 L78790.1 
    M15395.1 Y00057.1 

    Selected DOTS entries (see all 28):

    DT.100649228  DT.100649224  DT.95365956  DT.100649223  DT.91754605  DT.100844990  DT.101984355  DT.415667 
    DT.97805072  DT.95146677  DT.121142911  DT.415668  DT.95363832  DT.99930189  DT.121142914  DT.95183164 
    DT.100037383  DT.121142820  DT.121142822  DT.121142837  DT.121142870  DT.121142874  DT.121142888  DT.40117396 

    Selected AceView cDNA sequences (see all 268):

    AL551275 BF899362 CR624713 BQ709445 BQ723767 AI276144 CR621205 AK097216 
    BX461693 BI770661 BQ706680 AI805235 BQ067147 AU279404 AL556350 CR606739 
    BX956167 BX107224 BF062723 BQ711124 BM997964 AW027309 BM855207 BU152692 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITGB2 (see all 22)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^
    SP1:                                                        -     -     -           -     -     -                 -     -     -                                 
    SP2:              -     -     -     -     -     -     -     -     -     -           -     -     -                 -     -     -                                 
    SP3:                                                        -     -     -           -     -     -                 -     -     -     -                           
    SP4:                                                        -     -     -           -     -     -                 -     -     -                             -   
    SP5:                                                                                -     -     -                 -     -     -                                 

    ExUns: 12a · 12b · 12c · 12d ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
    SP1:                          -                                                     -                             -                                 
    SP2:                          -                                                     -                             -                                 
    SP3:                          -                                                     -                             -                                 
    SP4:  -     -     -     -     -                                                     -                             -                                 
    SP5:                          -                                                     -                             -                                 


    ECgene alternative splicing isoforms for ITGB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ITGB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACTTGAG
    ITGB2 Expression
    About this image


    ITGB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Epithelial Cells
             Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     NULL (Uncategorized)
             Mesenchymal stem cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ITGB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.375957
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB2 (see all 11): 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Multiple Sclerosis in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ITGB2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb21 , 5 integrin beta 21, 5 80.98(n)1
    82.31(a)1
      10 (39.72 cM)5
    164141  NM_008404.41  NP_032430.21 
     775302525 
    chicken
    (Gallus gallus)
    Aves ITGB21 integrin, beta 2 (complement component 3 receptor 3 more 67.83(n)
    65.23(a)
      396181  NM_205251.1  NP_990582.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB26
    integrin, beta 2 (complement component 3 receptor ...
    61(a)
    1 ↔ 1
    GL343645.1(224799-256392)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690352 hypothetical protein MGC69035 72.67(n)    BC059319.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itgb21 integrin, beta 2 55.83(n)
    51.36(a)
      557797  XM_680920.4  XP_686012.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta mys3 central nervous system development
    calcium-dependent more
    39(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea pat-33 beta integrin 38(a)   III(3981133-3985933)   --


    ENSEMBL Gene Tree for ITGB2 (if available)
    TreeFam Gene Tree for ITGB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITGB2 gene
    ITGB42  ITGB12  ENSG000002597532  ITGB72  ITGBL12  ITGB32  ITGB82  ITGB62  
    ITGB52  
    7 SIMAP similar genes for ITGB2 using alignment to 16 protein entries:     ITB2_HUMAN (see all proteins):
    ITGB7    ITGB3    ITGB5    ITGB1    ITGB6    ITGB8
    ITGB4

    ITGB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITGB2 (see all 1183)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs50306721,2,,4
    C,FLeukocyte adhesion deficiency 1 (LAD1)4 pathogenic146309312(-) ACCCGC/TGGCGT 4 R W mis14Minor allele frequency- G:0.00NA EU 4789
    rs1378526151,2,,4
    CLeukocyte adhesion deficiency 1 (LAD1)4 pathogenic146323397(-) CCATCA/G/TACCTG 6 N D Y mis10--------
    rs1132215351,2
    C--46305400(+) ACTGCC/TGGAGG 2 -- ds50010--------
    rs1134219211,2
    C,F--46305438(+) GTAGAC/TGGCTG 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs283739491,2
    C--46305439(+) TAGACA/G/TGCTGG 2 -- ds50011NA 2
    rs284974421,2
    C--46305460(+) TAGACG/TGCTGG 2 -- ds50010--------
    rs1440056421,2
    C--46305490(+) GGAGGA/GGAGGT 2 -- ds50010--------
    rs1123955461,2
    C,F--46305520(+) GTGTAG/AAGCTG 2 -- ds50012Minor allele frequency- A:0.48WA 120
    rs58442031,2
    C--46305521(+) GTAGA-/CT/TG 
            
    GCTGG
    2 -- ds50010--------
    rs285688771,2
    C,F--46305627(+) TCCGCT/CGCAGG 2 -- ds500111Minor allele frequency- C:0.37NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for ITGB2 (46305868 - 46351904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ITGB2 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673395CNV Deletion23128226
    esv2723696CNV Deletion23290073
    esv1200103CNV Deletion17803354
    esv2723692CNV Deletion23290073
    esv1002263CNV Deletion20482838
    esv2723691CNV Deletion23290073
    esv2723693CNV Deletion23290073
    nsv187072CNV Insertion16902084
    nsv913981CNV Loss21882294
    dgv4779n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ITGB2
    Locus Specific Mutation Databases (LSDB): ITGB2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGB2
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600065   
    OMIM disorders: 116920  
    UniProtKB/Swiss-Prot: ITB2_HUMAN, P05107
  • Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]: LAD1 patients have recurrent bacterial infections
    and their leukocytes are deficient in a wide range of adhesion-dependent functions. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for ITGB2 (see all 141):    
    About MalaCards
    leukocyte adhesion deficiency type 1    leukocyte adhesion deficiency    lymph node cancer    erythema elevatum diutinum
    pasteurellosis    autoimmune myocarditis    pustulosis palmaris et plantaris    urticaria
    splenomegaly    chronic venous leg ulcers    venous insufficiency    lepromatous leprosy
    membranous glomerulonephritis    pyoderma gangrenosum    pyoderma    lymphopenia
    leprosy    wegener's granulomatosis    measles    myocarditis

    1 disease from the University of Copenhagen DISEASES database for ITGB2:
    Leukocyte adhesion deficiency

    ITGB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ITGB2 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukocyte adhesion deficiency, type i 74.2 4 17675274 (1), 18216298 (1), 17651379 (1)
    leukocyte adhesion deficiency syndrome 68.6 3 7685776 (1), 11753075 (1), 10419878 (1)
    inflammation 62.4 42 11857637 (3), 8083366 (1), 8995280 (1), 10223354 (1) (see all 36)
    necrosis 50.6 33 8656013 (2), 8094958 (2), 7689934 (2), 1709380 (1) (see all 29)
    psoriasis 32.7 8 1401271 (2), 18521187 (2), 17596165 (1), 10228626 (1) (see all 6)
    mycosis fungoides 32.2 2 1281618 (1), 7539248 (1)
    immunodeficiency 30.5 17 7847878 (1), 8656013 (1), 9990374 (1), 17675274 (1) (see all 14)
    asthma allergic 30.1 1 10391069 (1)
    rheumatoid arthritis 30 8 8394794 (1), 7481076 (1), 8853226 (1), 8912515 (1) (see all 7)
    lymphocytic leukemia chronic b-cell 28.1 4 7915162 (2), 7690438 (1), 1586717 (1)

    Genatlas disease: ITGB2
    bacterial,recurrent,severe life-threatening infections,chronic neutrophilia,and impaired wound healing associated
    with gingivoperiodontitis and lack of pus formation,leukocyte adhesion deficiency

    Genetic Association Database (GAD): ITGB2
    Human Genome Epidemiology (HuGE) Navigator: ITGB2 (35 documents)

    Export disorders for ITGB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ITGB2 gene, integrated from 10 sources (see all 1296):
    (articles sorted by number of sources associating them with ITGB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease. (PubMed id 18675632)1, 4, 9 Moore S.W....Zaahl M.G. (J. Pediatr. Surg. 2008)
    2. A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke. (PubMed id 11935032)1, 4, 9 Zee R.Y....Ridker P.M. ( a journal of cerebral circulation 2002)
    3. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. (PubMed id 9884339)1, 2, 9 Hogg N....Klein N. (J. Clin. Invest. 1999)
    4. Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins. (PubMed id 1346613)1, 2, 9 Nelson C.... Arnaout M.A. (J. Biol. Chem. 1992)
    5. Molecular basis for a severe case of leukocyte adhesion deficiency. (PubMed id 1352501)1, 2, 9 Corbi A....Sanchez-Madrid F. (Eur. J. Immunol. 1992)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient. (PubMed id 20529581)1, 2 Li L.... Chen T.X. (Chin. Med. J. 2010)
    8. Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene. (PubMed id 20549317)1, 2 Parvaneh N.... Aghamohammadi A. (J. Clin. Immunol. 2010)
    9. Structure of an integrin with an alphaI domain, complement receptor type 4. (PubMed id 20033057)1, 2 Xie C.... Springer T.A. (EMBO J. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3689 HGNC: 6155 AceView: ITGB2 Ensembl:ENSG00000160255 euGenes: HUgn3689
    ECgene: ITGB2 Kegg: 3689 H-InvDB: ITGB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITGB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITGB2 Genetics and Cytogenetics in Oncology and Haematology
    ITGB2basehttp://bioinf.uta.fi/ITGB2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ITGB2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITGB2 gene:
    Search GeneIP for patents involving ITGB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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