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ITGB4 Gene

protein-coding   GIFtS: 70
GCID: GC17P073717

Integrin, Beta 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Integrin, Beta 41 2
GP1502 3
CD104 Antigen2 3
CD1042
Integrin Beta-42
Integrin Beta-4 Subunit2

External Ids:    HGNC: 61581   Entrez Gene: 36912   Ensembl: ENSG000001324707   OMIM: 1475575   UniProtKB: P161443   

Export aliases for ITGB4 gene to outside databases

Previous GC identifers: GC17P073492 GC17P076743 GC17P074181 GC17P074314 GC17P071229 GC17P069141


(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 ITGB4 Gene:
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane
glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their
ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that
regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the
laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the
biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric
atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ITGB4 Gene:
ITGB4 (integrin, beta 4) is a protein-coding gene. Diseases associated with ITGB4 include mucous membrane pemphigoid, and cicatricial pemphigoid. GO annotations related to this gene include receptor activity. An important paralog of this gene is ITGB1.

UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144
Function: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome
of epithelial cells. Is required for the regulation of keratinocyte polarity and motility

Gene Wiki entry for ITGB4 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)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGB4 gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGB4 promoter sequence
   Search Chromatin IP Primers for ITGB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGB4


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

ITGB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P073717:  view genomic region     (about GC identifiers)

Start:
73,717,408 bp from pter      End:
73,753,899 bp from pter
Size:
36,492 bases      Orientation:
plus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144 (See protein sequence)
Recommended Name: Integrin beta-4 precursor  
Size: 1822 amino acids; 202167 Da
Subunit: Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic
region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via
N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1
Sequence caution: Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1;
Type=Frameshift; Positions=1414, 1429;
Selected PDB 3D structures from and Proteopedia for ITGB4 (see all 8):
1QG3 (3D)        2YRZ (3D)        3F7P (3D)        3F7Q (3D)        3F7R (3D)        3FQ4 (3D)    
Secondary accessions: A0AVL6 O14690 O14691 O15339 O15340 O15341 Q9UIQ4
Alternative splicing: 5 isoforms:  P16144-1   P16144-2   P16144-3   P16144-4   P16144-5   

Explore the universe of human proteins at neXtProt for ITGB4: NX_P16144

Explore proteomics data for ITGB4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn327, Asn491, Asn579, Asn617, Asn695
  • Modification sites at PhosphoSitePlus

  • See ITGB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000204.3  NP_001005619.1  NP_001005731.1  

    ENSEMBL proteins: 
     ENSP00000463651   ENSP00000200181   ENSP00000405536   ENSP00000400217   ENSP00000463788  
     ENSP00000464473   ENSP00000464259   ENSP00000462494   ENSP00000344079  
    Reactome Protein details: P16144

    ITGB4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ITGB4
    OriGene Protein Over-expression Lysate for ITGB4
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ITGB4
    GenScript Custom Purified and Recombinant Proteins Services for ITGB4
    Novus Biologicals ITGB4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ITGB4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGB4
    R&D Systems Antibodies for ITGB4 (Integrin beta 4/CD104)
    Cell Signaling Technology (CST) Antibodies for ITGB4 
    OriGene Antibodies for ITGB4
    OriGene Custom Antibody Services for ITGB4
    Novus Biologicals ITGB4 Antibodies
    Abcam antibodies for ITGB4
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ITGB4
    LSBio Antibodies in human, mouse, rat for ITGB4

    ITGB4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ITGB4
    R&D Systems Proteome Profiler Antibody Arrays for ITGB4 (Integrin beta 4/CD104)
    GenScript Custom Assay Services for ITGB4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    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:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    ITG: Integrins

    Selected InterPro protein domains (see all 11):
     IPR002369 Integrin_bsu_N
     IPR003961 Fibronectin_type3
     IPR012896 Integrin_bsu_tail
     IPR003644 Calx_beta
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P16144

    ProtoNet protein and cluster: P16144

    2 Blocks protein domains:
    IPB001169 Integrin beta
    IPB003962 Fibronectin type III repeat signature


    UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144
    Domain: The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230
    Similarity: Belongs to the integrin beta chain family
    Similarity: Contains 1 Calx-beta domain
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 1 PSI domain
    Similarity: Contains 1 VWFA domain


    ITGB4 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: ITB4_HUMAN, P16144
    Function: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome
    of epithelial cells. Is required for the regulation of keratinocyte polarity and motility

         Genatlas biochemistry entry for ITGB4:
    integrin beta 4 receptor of laminins,associating with ITGA6 component of hemidesmosomes,expressed only to
    proliferating basal keratinocytes in the epidermis involved in cell matrix adhesion,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,altered in agressive behavior of
    cancers

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI11375975
         
    ITGB4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITGB4:
     Altered focal adhesion (FA) or 

         15 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Itgb4):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  renal/urinary system  respiratory system  taste/olfaction  vision/eye 

    ITGB4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ITGB4: Itgb4tm2Fgg Itgb4tm1Efu Itgb4tm1.1Mfel Itgb4tm1Fgg Itgb4tm1Son

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITGB4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITGB4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITGB4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITGB4

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITGB4:
    hsa-mir-16-5p (MIRT031876), hsa-mir-1 (MIRT001362), hsa-mir-155-5p (MIRT020864), hsa-mir-30a-5p (MIRT028554), hsa-mir-335-5p (MIRT018576)

    Block miRNA regulation of human, mouse, rat ITGB4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITGB4 (see all 18):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-519a hsa-miR-520a-3p hsa-miR-372 hsa-miR-409-5p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidITGB4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITGB4
    Predesigned siRNA for gene silencing in human, mouse, rat ITGB4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITGB4

    Clone
    Products:
         
    OriGene clones in human, mouse for ITGB4 (see all 14)
    OriGene ORF clones in mouse, rat for ITGB4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITGB4 (NM_001005731)
    Sino Biological Human cDNA Clone for ITGB4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ITGB4
    Browse ESI BIO Cell Lines and PureStem Progenitors for ITGB4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB4


    (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
    ITB4_HUMAN, P16144: Membrane; Single-pass type I membrane protein. Cell junction, hemidesmosome.
    Note=Colocalizes with DST at the leading edge of migrating keratinocytes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    extracellular2
    cytosol1
    golgi apparatus1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0008305integrin complex IEA--
    GO:0009925basal plasma membrane IEA--
    GO:0009986cell surface IDA--

    ITGB4 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 ITGB4 About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    HGF Pathway0.34
    Focal Adhesion0.65
    ECM-receptor interaction0.31
    Integrin-mediated cell adhesion0.38
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3Alpha6-Beta4 Integrin Signaling Pathway
    Alpha6-Beta4 Integrin Signaling Pathway
    Type I hemidesmosome assembly0.00
    4Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    5Apoptotic Pathways in Synovial Fibroblasts
    PPAR Pathway0.66
    Actin-Based Motility by Rho Family GTPases0.62
    Rac1 Pathway0.65
    Rap1 Pathway0.57
    Glioma Invasiveness0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ITGB4 (see all 34)
        RhoA Pathway
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    CDK5 Pathway
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for ITGB4
        Adhesion

    1 GeneGo (Thomson Reuters) Pathway for ITGB4
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    Selected BioSystems Pathways for ITGB4 (see all 7)
        Focal Adhesion
    Integrin-mediated cell adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy
    a6b1 and a6b4 Integrin signaling


    4 Reactome Pathways for ITGB4
        Laminin interactions
    Type I hemidesmosome assembly
    Assembly of collagen fibrils and other multimeric structures
    Syndecan interactions


    Selected Kegg Pathways  (Kegg details for ITGB4) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Regulation of actin cytoskeleton
    Hypertrophic cardiomyopathy (HCM)


    ITGB4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB4: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ITGB4

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

    Selected Interacting proteins for ITGB4 (P161441, 2, 3 ENSP000002001814) via UniProtKB, MINT, STRING, and/or I2D (see all 149)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLECQ151491, 2, 3, ENSP000003238564EBI-948678,EBI-297903 MINT-7234231 MINT-7234308 MINT-7234276 MINT-7234245 MINT-7234341 MINT-7234186 MINT-7234259 MINT-7234326 MINT-7234292 MINT-7234199 MINT-7234217 I2D: score=2 STRING: ENSP00000323856
    ARRDC3Q96B671, 3, ENSP000002651384EBI-948678,EBI-2875665 I2D: score=3 STRING: ENSP00000265138
    ITGA6P232291, 3, ENSP000003868964EBI-948678,EBI-2436548 I2D: score=2 STRING: ENSP00000386896
    FLNAP213332, 3, ENSP000003588664MINT-51381 I2D: score=1 STRING: ENSP00000358866
    ATXN1P542532, 3, ENSP000002447694MINT-2860098 I2D: score=3 STRING: ENSP00000244769
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication ----
    GO:0007155cell adhesion NAS2311577
    GO:0007160cell-matrix adhesion IEA--
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0007275multicellular organismal development IEA--

    ITGB4 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 ITGB4 (ITB4)

    Selected Novoseek inferred chemical compound relationships for ITGB4 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    safrole oxide 81.6 5 16326105 (2), 16225864 (2), 16473419 (1)
    kalinin 63.8 2 7963682 (1), 11890721 (1)
    matrigel 54.5 2 9164655 (1), 15226394 (1)
    tyrosine 31.3 15 16322210 (2), 20512931 (1), 11375975 (1), 12499048 (1) (see all 13)
    calcipotriol 25.7 1 10809861 (1)
    phosphatidylinositol 9.22 1 16740748 (1)
    nitric oxide 4.38 2 16225864 (1), 16473419 (1)
    calcium 1.86 2 1714931 (2)
    oxygen 0 9 16225864 (2), 17067796 (1), 17964297 (1), 19362839 (1) (see all 7)
    leucine 0 1 9344615 (1)



    ITGB4 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,
    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 ITGB4 gene (3 alternative transcripts): 
    NM_000213.3  NM_001005619.1  NM_001005731.1  

    Unigene Cluster for ITGB4:

    Integrin, beta 4
    Hs.632226  [show with all ESTs]
    Unigene Representative Sequence: X53587
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579662(uc010dgp.1) ENST00000200181(uc002jpg.3 uc002jph.3 uc002jpi.4)
    ENST00000450894 ENST00000580542(uc010dgo.3 uc010wsh.1) ENST00000449880
    ENST00000584558 ENST00000582629 ENST00000584374 ENST00000584025 ENST00000583327
    ENST00000579211 ENST00000584939 ENST00000578318 ENST00000339591(uc002jpj.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ITGB4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITGB4 (see all 18):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-519a hsa-miR-520a-3p hsa-miR-372 hsa-miR-409-5p hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidITGB4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ITGB4
    Predesigned siRNA for gene silencing in human, mouse, rat ITGB4
    Clone
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    OriGene clones in human, mouse for ITGB4 (see all 14)
    OriGene ORF clones in mouse, rat for ITGB4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITGB4 (NM_001005731)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGB4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGB4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ITGB4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITGB4
      QuantiTect SYBR Green Assays in human, mouse, rat ITGB4
      QuantiFast Probe-based Assays in human, mouse, rat ITGB4

    Additional mRNA sequence: 

    AB208913.1 AF011375.1 AK304792.1 AK310952.1 BC109238.1 BC118916.1 BC126411.1 BC143738.1 
    BC143742.1 X51841.1 X52186.1 X53587.1 

    19 DOTS entries:

    DT.92446786  DT.86821405  DT.92446788  DT.100702066  DT.100810665  DT.40117547  DT.100810664  DT.121008772 
    DT.100802929  DT.91921651  DT.95361422  DT.97859510  DT.100717678  DT.100810666  DT.75111638  DT.92446787 
    DT.95133507  DT.97859511  DT.91917254 

    Selected AceView cDNA sequences (see all 417):

    X51841 AA291050 BU196988 CA489360 BM720445 CD672578 BU174735 BM818000 
    CA388787 BM910417 BM018561 BG011042 BX459036 AI095695 BM977506 BM773187 
    R81910 AW337277 AI351365 CA392771 CA488217 BM700552 CD722719 CA489093 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITGB4 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                            -               

    ExUns: 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35 ^ 36a · 36b · 36c ^ 37 ^
    SP1:        -                                                     -                                   -     -                                               -   
    SP2:        -                                                     -                                   -     -                       -                       -   
    SP3:        -                                                     -                                   -     -                       -                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for ITGB4

    (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)
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    ITGB4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGGGGCAA
    ITGB4 Expression
    About this image


    ITGB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
             Schwann-like cells
     
     Epithelial Cells
             Intermediate Keratinocytes Embryonic Epidermis
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Mature Endothelial Cells Corneal Endothelium
             Limbal epithelial stem cells (family)
     
     Schwann Cells (Nervous System)    fully expand to see all 2 entries
             Schwann-like cells
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Inner Enamel Epithelial Cells Dental Enamel
    ITGB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632226

    UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144
    Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also
    expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen
    and stomach

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB4: 
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              Focal Adhesions in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB4

    (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 chordates.

    Orthologs for ITGB4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb41 , 5 integrin beta 41, 5 82.84(n)1
    84.05(a)1
      11 (80.91 cM)5
    1928971  NM_001005608.21  NP_001005608.21 
     1159747095 
    chicken
    (Gallus gallus)
    Aves ITGB41 integrin, beta 4 70.44(n)
    66.11(a)
      417374  XM_003642326.2  XP_003642374.2 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB46
    integrin, beta 4
    64(a)
    1 ↔ 1
    2(113711990-113784505)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia itgb41 integrin, beta 4 64.1(n)
    63.25(a)
      100485847  XM_004918457.1  XP_004918514.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb72e012 wufb72e01 74.89(n)   322748  CF996136.1 


    ENSEMBL Gene Tree for ITGB4 (if available)
    TreeFam Gene Tree for ITGB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITGB4 gene
    ITGB12  ENSG000002597532  ITGB72  ITGB22  ITGBL12  ITGB32  ITGB82  ITGB62  
    ITGB52  
    7 SIMAP similar genes for ITGB4 using alignment to 9 protein entries:     ITB4_HUMAN (see all proteins):
    ITGB6    ITGB8    ITGB3    ITGB7    ITGB5    ITGB2
    L1CAM

    ITGB4 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 ITGB4 (see all 1317)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0112944
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0112942 G D mis40--------
    VAR_0112934
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0112932 D Y mis40--------
    VAR_0112954
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0112952 R C mis40--------
    VAR_0112964
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0112962 V D mis40--------
    VAR_0040074
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0040072 L P mis40--------
    VAR_0106524
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0106522 C R mis40--------
    VAR_0113014
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0113012 R H mis40--------
    VAR_0040084
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0040082 C G mis40--------
    VAR_0040104
    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)4--see VAR_0040102 C R mis40--------
    VAR_0112994
    Generalized atrophic benign epidermolysis bullosa (GABEB)4--see VAR_0112992 G D mis40--------

    HapMap Linkage Disequilibrium report for ITGB4 (73717408 - 73753899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ITGB4 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516133CNV Loss19592680
    dgv3269n71CNV Loss21882294
    nsv470606CNV Loss18288195
    nsv908794CNV Loss21882294
    nsv908804CNV Loss21882294
    nsv470603CNV Loss18288195
    dgv3266n71CNV Loss21882294
    dgv3268n71CNV Loss21882294
    dgv3267n71CNV Loss21882294
    nsv908812CNV Loss21882294

    Human Gene Mutation Database (HGMD): ITGB4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGB4
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 147557   
    OMIM disorders: 226730  226650  131800  
    UniProtKB/Swiss-Prot: ITB4_HUMAN, P16144
  • Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]: An autosomal recessive,
    frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable
    effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and
    gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation
    rather than a scarring process secondary to epidermolysis bullosa. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of
    junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and
    tooth abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ITGB4 (see all 80):    
    About MalaCards
    mucous membrane pemphigoid    cicatricial pemphigoid    ocular cicatricial pemphigoid    itgb4-related epidermolysis bullosa with pyloric atresia
    epidermolysis bullosa with pyloric atresia    epidermolysis bullosa simplex with pyloric atresia    epidermolysis bullosa, junctional, with pyloric stenosis    in situ carcinoma
    epidermolysis bullosa acquisita    lichen planus pemphigoides    kindler syndrome    epidermolysis bullosa simplex, localized
    aplasia cutis congenita    junctional epidermolysis bullosa, non-herlitz type    bullous pemphigoid    junctional epidermolysis bullosa
    epidermolysis bullosa    epidermolysis bullosa simplex    lichen planus    actinic cheilitis

    1 disease from the University of Copenhagen DISEASES database for ITGB4:
    Epidermolysis bullosa

    ITGB4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ITGB4 gene (see all 59)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyloric atresia 93.2 28 9546354 (3), 18779879 (2), 9194858 (2), 8832392 (2) (see all 18)
    eb-pa 88.6 6 9422533 (1), 9892956 (1), 15654962 (1), 9792864 (1) (see all 5)
    epidermolysis bullosa junctional 87.5 16 18779879 (2), 10792571 (1), 10397589 (1), 7545057 (1) (see all 14)
    pemphigoid bullous 83.7 26 8408921 (2), 1401998 (2), 11899157 (1), 9087447 (1) (see all 20)
    epidermolysis bullosa 80.6 16 9546354 (3), 8712842 (2), 15009117 (2), 9422533 (1) (see all 11)
    lethal junctional epidermolysis bullosa 74.2 1 15491419 (1)
    ocular cicatricial pemphigoid 72 6 10476794 (2), 11157870 (1), 16810295 (1), 17524068 (1)
    pemphigoid cicatricial 66.1 2 11899157 (1), 16810295 (1)
    kindler syndrome 64.9 1 19762710 (1)
    breast carcinoma 46.6 7 11170153 (2), 15492261 (1), 1383121 (1), 7544798 (1) (see all 5)

    GeneTests: ITGB4
    GeneReviews: ITGB4
    Genetic Association Database (GAD): ITGB4
    Human Genome Epidemiology (HuGE) Navigator: ITGB4 (6 documents)

    Export disorders for ITGB4 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 ITGB4 gene, integrated from 10 sources (see all 388):
    (articles sorted by number of sources associating them with ITGB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population. (PubMed id 11289717)1, 2, 9 Hirano A....Emi M. (J. Hum. Genet. 2001)
    2. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. (PubMed id 9792864)1, 2, 9 Pulkkinen L.... Uitto J. (Am. J. Hum. Genet. 1998)
    3. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4). (PubMed id 9422533)1, 2, 9 Pulkkinen L.... Uitto J. (Am. J. Pathol. 1998)
    4. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. (PubMed id 11328943)1, 2, 9 Nakano A.... Uitto J. (Pediatr. Res. 2001)
    5. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. (PubMed id 10873890)1, 2, 9 Kambham N.... D'Agati V.D. (Am. J. Kidney Dis. 2000)
    6. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. (PubMed id 9194858)1, 2, 9 Pulkkinen L.... Uitto J. (Lab. Invest. 1997)
    7. Polymorphisms in predicted microRNA-binding sites in integrin genes and breast cancer: ITGB4 as prognostic marker. (PubMed id 18550570)1, 4, 9 Brendle A....FAPrsti A. (Carcinogenesis 2008)
    8. The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression. (PubMed id 11375975)1, 2, 9 Favre B.... Borradori L. (J. Biol. Chem. 2001)
    9. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. (PubMed id 9892956)1, 2, 9 Mellerio J.E.... Eady R.A.J. (Br. J. Dermatol. 1998)
    10. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. (PubMed id 9546354)1, 2, 9 Pulkkinen L.... Uitto J. (Am. J. Pathol. 1998)

    (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: 3691 HGNC: 6158 AceView: ITGB4 Ensembl:ENSG00000132470 euGenes: HUgn3691
    ECgene: ITGB4 Kegg: 3691 H-InvDB: ITGB4

    (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 ITGB4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITGB4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ITGB4[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 ITGB4 gene:
    Search GeneIP for patents involving ITGB4

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



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