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ITGB6 Gene

protein-coding   GIFtS: 65
GCID: GC02M160920

Integrin, Beta 6

  See ITGB6-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 61 2
Integrin Beta-62

External Ids:    HGNC: 61611   Entrez Gene: 36942   Ensembl: ENSG000001152217   OMIM: 1475585   UniProtKB: P185643   

Export aliases for ITGB6 gene to outside databases

Previous GC identifers: GC02M158889 GC02M159484 GC02M161158 GC02M160781 GC02M160664 GC02M152841


(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 ITGB6 Gene:
This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion
receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric
integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an
alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1.
Alternate splicing results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for ITGB6 Gene:
ITGB6 (integrin, beta 6) is a protein-coding gene. Diseases associated with ITGB6 include amelogenesis imperfecta, type ib, and amelogenesis imperfecta, type iii. GO annotations related to this gene include integrin binding and virus receptor activity. An important paralog of this gene is ITGB4.

UniProtKB/Swiss-Prot: ITB6_HUMAN, P18564
Function: Integrin alpha-V/beta-6 is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D
in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma
cell invasion

Gene Wiki entry for ITGB6 (Integrin, beta 6) 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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGB6 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   Nkx2-5   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGB6 promoter sequence
   Search Chromatin IP Primers for ITGB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGB6


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

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.2

ITGB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGB6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M160920:  view genomic region     (about GC identifiers)

Start:
160,956,177 bp from pter      End:
161,128,399 bp from pter
Size:
172,223 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: ITB6_HUMAN, P18564 (See protein sequence)
Recommended Name: Integrin beta-6 precursor  
Size: 788 amino acids; 85936 Da
Subunit: Heterodimer of an alpha and a beta subunit. Beta-6 associates with alpha-V. Interacts with FLNB.
Interacts with HAX1. Alpha-V/beta-6 binds to foot-and-mouth disease virus (FMDV) VP1 protein, coxsackievirus A9,
coxsackievirus B1 capsid proteins and acts as a receptor for these viruses
1 PDB 3D structure from and Proteopedia for ITGB6:
1LH9 (3D)    
Secondary accessions: B2R9W5 Q0VA95 Q16500 Q53RG5 Q53RR6

Explore the universe of human proteins at neXtProt for ITGB6: NX_P18564

Explore proteomics data for ITGB6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn48, Asn97, Asn260, Asn387, Asn396, Asn463, Asn471, Asn541, Asn575
  • Modification sites at PhosphoSitePlus

  • See ITGB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000879.2  NP_001269282.1  NP_001269283.1  NP_001269284.1  NP_001269317.1  NP_001269318.1  NP_001269319.1  

    ENSEMBL proteins: 
     ENSP00000283249   ENSP00000386477   ENSP00000408024   ENSP00000386828   ENSP00000386367  
    Reactome Protein details: P18564

    ITGB6 Human Recombinant Protein Products:

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    Novus Biologicals ITGB6 Proteins
    Novus Biologicals ITGB6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ITGB6 

    ITGB6 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for ITGB6 


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

    Selected InterPro protein domains (see all 8):
     IPR002369 Integrin_bsu_N
     IPR012896 Integrin_bsu_tail
     IPR015436 Integrin_bsu-6
     IPR015812 Integrin_bsu
     IPR014836 Integrin_bsu_cyt_dom

    Graphical View of Domain Structure for InterPro Entry P18564

    ProtoNet protein and cluster: P18564

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


    UniProtKB/Swiss-Prot: ITB6_HUMAN, P18564
    Similarity: Belongs to the integrin beta chain family
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with ITGB6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITB6_HUMAN, P18564
    Function: Integrin alpha-V/beta-6 is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D
    in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma
    cell invasion

         Genatlas biochemistry entry for ITGB6:
    integrin,beta 6,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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001618virus receptor activity IEA--
    GO:0004872receptor activity ----
    GO:0005178integrin binding IEA--
         
    Find genes that share ontologies with ITGB6           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itgb6):
     hematopoietic system  homeostasis/metabolism  immune system  integument  respiratory system 

    Find genes that share phenotypes with ITGB6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Itgb6tm1Des for ITGB6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITGB6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITGB6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITGB6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITGB6

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    miRTarBase miRNAs that target ITGB6:
    hsa-mir-335-5p (MIRT018663)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Addgene plasmids for ITGB6 

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    eBioscience FlowRNA Probe Sets ( VA6-13509) for ITGB6 


    (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
    ITB6_HUMAN, P18564: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    extracellular2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008305integrin complex IEA--
    GO:0016020membrane ----
    GO:0043235receptor complex IDA--

    Find genes that share ontologies with ITGB6           About GenesLikeMe


    (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 ITGB6 About   (see all 23)  
    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
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    4Apoptotic Pathways in Synovial Fibroblasts
    PPAR Pathway0.66
    Actin-Based Motility by Rho Family GTPases0.62
    Rac1 Pathway0.65
    Rap1 Pathway0.57
    Glioma Invasiveness0.64
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with ITGB6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ITGB6 (see all 34)
        RhoA Pathway
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    CDK5 Pathway
    Tec Kinases Signaling

    4 BioSystems Pathways for ITGB6
        Focal Adhesion
    Integrin-mediated cell adhesion
    TGF Beta Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy


    4 Reactome Pathways for ITGB6
        Molecules associated with elastic fibres
    ECM proteoglycans
    Integrin cell surface interactions
    Elastic fibre formation


    Selected Kegg Pathways  (Kegg details for ITGB6) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Regulation of actin cytoskeleton
    Hypertrophic cardiomyopathy (HCM)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB6: 
              Fibrosis in human mouse rat
              Wound Healing in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ITGB6

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

    Selected Interacting proteins for ITGB6 (P185643 ENSP000002832494) via UniProtKB, MINT, STRING, and/or I2D (see all 123)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGAVP067563, ENSP000002610234I2D: score=3 STRING: ENSP00000261023
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    FLNBO753693, ENSP000002959564I2D: score=1 STRING: ENSP00000295956
    TGFB1P011373, ENSP000002219304I2D: score=1 STRING: ENSP00000221930
    VTNP040043, ENSP000002262184I2D: score=1 STRING: ENSP00000226218
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response IEA--
    GO:0007155cell adhesion TAS2365683
    GO:0007160cell-matrix adhesion IEA--
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with ITGB6           About GenesLikeMe



    (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 ITGB6 (ITB6)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ITGB6 gene (7 alternative transcripts): 
    NM_000888.4  NM_001282353.1  NM_001282354.1  NM_001282355.1  NM_001282388.1  NM_001282389.1  NM_001282390.1  

    Unigene Cluster for ITGB6:

    Integrin, beta 6
    Hs.470399  [show with all ESTs]
    Unigene Representative Sequence: AL831998
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283249(uc002ubh.2 uc010fou.2 uc010fov.1) ENST00000409583
    ENST00000475438 ENST00000428609(uc010zcq.1) ENST00000409967 ENST00000409872
    ENST00000485635(uc010fow.1) ENST00000498478 ENST00000459712 ENST00000477514

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    Flow Cytometry
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    Additional mRNA sequence: 

    AK026736.1 AK290300.1 AK304203.1 AK308325.1 AK313944.1 AL359053.1 AL831998.1 BC121178.2 
    BC143656.1 M35198.3 

    7 DOTS entries:

    DT.304563  DT.211681  DT.101981864  DT.101981865  DT.100017438  DT.100798893  DT.97806336 

    Selected AceView cDNA sequences (see all 122):

    AA486731 AI628471 AW517786 AI913015 AI432955 AA564097 BX646691 CK819957 
    AA449458 AI570068 CA488829 AI627507 AA365835 M35198 AI685212 AI865886 
    AI766295 AI572011 AI934331 NM_000888 AI273985 AI688355 AW166931 AW131358 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ITGB6    About this scheme

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


    ECgene alternative splicing isoforms for ITGB6

    (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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    ITGB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAATTTAAA
    ITGB6 Expression
    About this image


    ITGB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Hair
             Fetal Medulla Cells Hair Shaft
     
     Epithelial Cells
             Fetal Medulla Cells Hair Shaft
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
    ITGB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470399
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGB6: 
              Fibrosis in human mouse rat
              Wound Healing in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGB6

    (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 ITGB6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itgb61 , 5 integrin beta 61, 5 86.13(n)1
    90.71(a)1
      2 (34.81 cM)5
    164201  NM_001159564.11  NP_001153036.11 
     605982925 
    chicken
    (Gallus gallus)
    Aves ITGB61 integrin, beta 6 73.23(n)
    74.97(a)
      424191  XM_004942824.1  XP_004942881.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGB66
    integrin, beta 6
    69(a)
    1 ↔ 1
    GL343371.1(634866-722765)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia itgb61 integrin, beta 6 67.1(n)
    67.34(a)
      100037861  NM_001097306.1  NP_001090775.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itgb61 integrin, beta 6 61(n)
    59.48(a)
      100499533  XM_003199426.2  XP_003199474.1 


    ENSEMBL Gene Tree for ITGB6 (if available)
    TreeFam Gene Tree for ITGB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITGB6 gene
    ITGB42  ITGB12  ENSG000002597532  ITGB72  ITGB22  ITGBL12  ITGB32  ITGB82  
    ITGB52  
    8 SIMAP similar genes for ITGB6 using alignment to 4 protein entries:     ITB6_HUMAN (see all proteins):
    ITGB3    ITGB5    ITGB8    ITGB7    ITGB4    ITGB2
    ITGB1    ITGBL1

    Find genes that share paralogs with ITGB6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ITGB6
    PGOHUM00000236423


    (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 ITGB6 (see all 2107)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3735994761,2
    --160433993(+) TCTCT-/CTTTTT 1 -- int10--------
    rs44702951,2
    C,F,A,H--160957824(+) TCCTAG/CAAGTT 1 -- ds50019Minor allele frequency- C:0.37NS WA CSA NA EA 485
    rs1866209981,2
    --160957830(+) AAGTTC/TAGAAT 1 -- ds50010--------
    rs45225561,2
    C,F,A,H--160957846(+) GGCAAA/GTATAG 1 -- ds5001 ese321Minor allele frequency- G:0.43NS EA WA NA CSA 2341
    rs1912274231,2
    --160957872(+) ATATGG/TGCTTT 1 -- ds50010--------
    rs1439477501,2
    --160957878(+) GCTTTA/GTGACT 1 -- ds50010--------
    rs1164988691,2
    C,F--160957889(+) TTGCCG/AAGACA 1 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1838394261,2
    --160957949(+) ACATTC/TTTCAA 1 -- ds50010--------
    rs1391028151,2
    --160957989(+) ATGATC/TTTTTG 1 -- ds50010--------
    rs1439675611,2
    C--160958013(+) ACAGAA/GTTAGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ITGB6 (160956177 - 161128399 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ITGB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721038CNV Deletion23290073
    nsv528083CNV Loss19592680
    nsv875346CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGB6
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGB6

    (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.)
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    OMIM gene information: 147558    OMIM disorders: --

    2 diseases for ITGB6:    
    About MalaCards
    amelogenesis imperfecta, type ib    amelogenesis imperfecta, type iii


    Find genes that share disorders with ITGB6           About GenesLikeMe

    2 Novoseek inferred disease relationships for ITGB6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma squamous cell 21.6 1 12009335 (1)
    tumors 0 1 7673344 (1)

    Genetic Association Database (GAD): ITGB6
    Human Genome Epidemiology (HuGE) Navigator: ITGB6 (9 documents)

    Export disorders for ITGB6 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 ITGB6 gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with ITGB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal locations of the genes coding for the integrin beta 6 and beta 7 subunits. (PubMed id 1729173)1, 3, 9 Krissansen G.W....Watson J.D. (Immunogenetics 1992)
    2. Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke. (PubMed id 19910543)1, 4 Ding H....Wang D.W. ( a journal of cerebral circulation 2010)
    3. Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. (PubMed id 20418489)1, 4 Qi L.... . (Hum. Mol. Genet. 2010)
    4. 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)
    5. Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter. (PubMed id 19590686)1, 4 Wilker E....Schwartz J. (Environ. Health Perspect. 2009)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. Integrin alpha v beta 6 is an RGD-dependent receptor for coxsackievirus A9. (PubMed id 15194773)1, 2 Williams C.H....Stanway G. (J. Virol. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin (beta) subunits. (PubMed id 11807098)1, 2 van Der Flier A.... Sonnenberg A. (J. Cell Biol. 2002)
    10. Role of the integrin alpha v beta 6 in cell attachment to fibronectin. Heterologous expression of intact and secreted forms of the receptor. (PubMed id 8120056)1, 3 Weinacker A....Sheppard D. (J. Biol. Chem. 1994)

    (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: 3694 HGNC: 6161 AceView: ITGB6 Ensembl:ENSG00000115221 euGenes: HUgn3694
    ECgene: ITGB6 Kegg: 3694 H-InvDB: ITGB6

    (According to HUGE)
    About This Section

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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 ITGB6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITGB6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITGB6 gene:
    Search GeneIP for patents involving ITGB6

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



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