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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 epidermolysis bullosa with pyloric atresia, and mucous membrane pemphigoid, and among its related super-pathways are Integrin-mediated cell adhesion and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include receptor activity and receptor binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITGB4 gene promoter:
         AP-1   STAT3   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein. Cell junction, hemidesmosome.
Note=Colocalizes with DST at the leading edge of migrating keratinocytes
Sequence caution: Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1;
Type=Frameshift; Positions=1414, 1429;
6/8 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16144

  • ITGB4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITGB4 Protein Expression
    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
    Human Recombinant Protein Products for ITGB4: 
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    Novus Biologicals ITGB4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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



    ITGB4 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGB4
    R&D Systems Antibodies for ITGB4 (Integrin beta 4/CD104)
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    Abcam antibodies for ITGB4
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for ITGB4
    LSBio Antibodies in human, mouse, rat for ITGB4 

    Assay Products for ITGB4: 
    EMD Millipore Kits and Assays for the Analysis of ITGB4
    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)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    ITG: Integrins

    5/12 InterPro protein domains (see all 12):
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 Itgb4tm1Son Itgb4tm1.1Mfel Itgb4tm1Fgg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITGB4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target ITGB4:
    hsa-mir-1 (MIRT001362)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGB4
    8/18 QIAGEN miScript miRNA 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:
        
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    OriGene RNAi products in human, mouse, rat for ITGB4
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    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITGB4
    Sirion Biotech Customized adenovirus for overexpression of ITGB4

    Clone
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    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
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ITGB4 About   (see all 29)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal Adhesion
    Focal Adhesion0.64
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.64
    HGF Pathway0.34
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.53
    3Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM-receptor interaction0.42
    Syndecan interactions0.44
    Integrin cell surface interactions0.32
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    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

    1 EMD Millipore Pathway for ITGB4
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    5/34 Downloadable PowerPoint Slides of QIAGEN 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

    5/7 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


    5/10        Reactome Pathways for ITGB4 (see all 10)
        Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Extracellular matrix organization
    Type I hemidesmosome assembly


    5/7         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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITGB4

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

    5/148 Interacting proteins for ITGB4 (P161441, 2, 3 ENSP000002001814) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLECQ151492, 3, ENSP000003238564MINT-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): 5/11 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITGB4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITGB4 (ITB4)

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about ITGB4 / ITB4

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    Primer
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      QIAGEN 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 

    24/417 AceView cDNA sequences (see all 417):

    AI351365 BM018561 X52186 AW337277 R81910 BE858437 AI095695 CA489360 
    CA388787 BM844909 CD722719 AI573122 CA488217 BU950690 BM773187 CA489093 
    BM700552 AI362585 BX459036 BX117023 BQ786982 BU174735 BQ953886 X51841 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITGB4 expression in normal human tissues (normalized intensities)      ITGB4 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
             bronchial epithelia   
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Limbal epithelial stem cells
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   
             colonic mucosal (ibs)   
     
     Intestine
             small intestine ; glandular cells   
             small intestine   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Intermediate Keratinocytes Embryonic Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    See ITGB4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITGB4

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ITGB4: 
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              Terminal Differentiation Markers in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ITGB4 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb41 , 5 integrin beta 41, 5 85.3(n)1
    87.97(a)1
      11 (80.91 cM)5
    1928971  NM_001005608.21  NP_001005608.21 
     1159747095 
    chicken
    (Gallus gallus)
    Aves ITGB41 integrin, beta 4 70.27(n)
    65.98(a)
      417374  XM_003642326.1  XP_003642374.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB46
    integrin, beta 4
    64(a)
    1 ↔ 1
    2(113711990-113784505)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb72e012 wufb72e01 74.89(n)   322748  CF996136.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta betaInt-nu6
    beta[nu] integrin
    27(a)
    1 → many
    2L(21053033-21058044)
    worm
    (Caenorhabditis elegans)
    Secernentea C05D9.36
    Uncharacterized integrin beta-like protein C05D9.3...
    20(a)
    possible ortholog
    X(1111903-1116794)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1317 SNPs in ITGB4 are shown (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) 10/16 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/69 diseases for ITGB4 (see all 69):    About MalaCards
    epidermolysis bullosa with pyloric atresia    mucous membrane pemphigoid    cicatricial pemphigoid    ocular cicatricial pemphigoid
    epidermolysis bullosa acquisita    itgb4-related epidermolysis bullosa with pyloric atresia    kindler syndrome    in situ carcinoma
    bullous pemphigoid    aplasia cutis congenita    lichen planus pemphigoides    junctional epidermolysis bullosa
    epidermolysis bullosa    epidermolysis bullosa simplex    focal segmental glomerulosclerosis    cervical intraepithelial neoplasia
    arachnoiditis    oral lichen planus    colon adenocarcinoma    oligodendroglioma

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

    ITGB4 for disorders           About GeneDecksing

    10/59 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)
    About This Section

    PubMed articles for ITGB4 gene, integrated from 9 sources (see all 384):
    (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. (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. (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. (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. (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. (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. (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....Forsti A. (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. (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. (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. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3691 HGNC: 6158 AceView: ITGB4 Ensembl:ENSG00000132470 euGenes: HUgn3691
    ECgene: ITGB4 Kegg: 3691 H-InvDB: ITGB4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/ITGB4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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

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