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

ITGA6 Gene

protein-coding   GIFtS: 70
GCID: GC02P173256

Integrin, Alpha 6

  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, Alpha 61 2     ITGA6B2
VLA-62 3     Integrin Alpha-62
CD49 Antigen-Like Family Member F2 3     Integrin Alpha6B2
CD49f2     CD49f Antigen3

External Ids:    HGNC: 61421   Entrez Gene: 36552   Ensembl: ENSG000000914097   OMIM: 1475565   UniProtKB: P232293   

Export aliases for ITGA6 gene to outside databases

Previous GC identifers: GC02P171344 GC02P171953 GC02P173494 GC02P173117 GC02P173000 GC02P165170


(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 ITGA6 Gene:
The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins
composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in
different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with
beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface
mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for ITGA6 Gene: 
ITGA6 (integrin, alpha 6) is a protein-coding gene. Diseases associated with ITGA6 include itga6-related epidermolysis bullosa with pyloric atresia, and epidermolysis bullosa with pyloric atresia, and among its related super-pathways are Integrin-mediated cell adhesion and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include protein binding and metal ion binding. An important paralog of this gene is ITGA1.

UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229
Function: Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor
for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome

Gene Wiki entry for ITGA6 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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITGA6 gene promoter:
         Max1   p53   AP-1   ATF-2   MyoD   FOXO4   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGA6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITGA6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGA6


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

ITGA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGA6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P173256:  view genomic region     (about GC identifiers)

Start:
173,292,082 bp from pter      End:
173,371,181 bp from pter
Size:
79,100 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: ITA6_HUMAN, P23229 (See protein sequence)
Recommended Name: Integrin alpha-6 precursor  
Size: 1130 amino acids; 126606 Da
Subunit: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain
linked by a disulfide bond. Alpha-6 associates with either beta-1 or beta-4. Interacts with HPS5. Interacts with
RAB21
Subcellular location: Cell membrane; Single-pass type I membrane protein
Sequence caution: Sequence=BAG57680.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RMU9 B4DG69 B4DKB8 C4AM96 G5E9H1 Q08443 Q0MRC7 Q14646 Q16508 Q53RX7
Q59HB7 Q86VL6 Q9UCT1 Q9UN03
Alternative splicing: 8 isoforms:  P23229-1   P23229-2   P23229-3   P23229-4   P23229-5   P23229-6   P23229-7   P23229-9   
(Contains a phosphoserine at position 1103)

Explore the universe of human proteins at neXtProt for ITGA6: NX_P23229

Explore proteomics data for ITGA6 at MOPED 

Post-translational modifications:

  • UniProtKB: Isoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation.
    Phosphorylation occurs on 'Ser-1103' of isoform alpha-6X1X2A. Phosphorylation is not required for the induction
    of integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23229

  • ITGA6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITGA6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000201.2  NP_001073286.1  

    ENSEMBL proteins: 
     ENSP00000413470   ENSP00000386614   ENSP00000264107   ENSP00000406694   ENSP00000394169  
     ENSP00000386896   ENSP00000388435   ENSP00000264106   ENSP00000364369   ENSP00000341078  
    Reactome Protein details: P23229
    Human Recombinant Protein Products for ITGA6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ITGA6 (Integrin alpha 6 beta 4)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ITGA6
    OriGene Protein Over-expression Lysate for ITGA6
    OriGene MassSpec for ITGA6 
    OriGene Custom Protein Services for ITGA6
    GenScript Custom Purified and Recombinant Proteins Services for ITGA6
    Novus Biologicals ITGA6 Proteins
    Novus Biologicals ITGA6 Lysates
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for ITGA6 
    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:0009897external side of plasma membrane IEA--
    GO:0009925basal plasma membrane IEA--

    ITGA6 for ontologies           About GeneDecksing



    ITGA6 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGA6
    R&D Systems Antibodies for ITGA6 (Integrin alpha 6/CD49f)
    Cell Signaling Technology (CST) Antibodies for ITGA6 
    OriGene Antibodies for ITGA6
    OriGene Custom Antibody Services for ITGA6
    GenScript Custom Superior Antibodies Services for ITGA6
    Novus Biologicals ITGA6 Antibodies
    Abcam antibodies for ITGA6
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for ITGA6
    LSBio Antibodies in human, mouse, rat for ITGA6 

    Assay Products for ITGA6: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ITGA6
    R&D Systems Proteome Profiler Antibody Arrays for ITGA6 (Integrin alpha 6/CD49f)
    GenScript Custom Assay Services for ITGA6
    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: 
    CD: CD molecules
    ITG: Integrins

    4 InterPro protein domains:
     IPR000413 Integrin_alpha
     IPR018184 Integrin_alpha_C_CS
     IPR013649 Integrin_alpha-2
     IPR013519 Int_alpha_beta-p

    Graphical View of Domain Structure for InterPro Entry P23229

    ProtoNet protein and cluster: P23229

    3 Blocks protein domains:
    IPB000413 Integrins alpha chain
    IPB013513 Integrin alpha chain
    IPB013517 FG-GAP


    UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229
    Similarity: Belongs to the integrin alpha chain family
    Similarity: Contains 7 FG-GAP repeats


    ITGA6 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: ITA6_HUMAN, P23229
    Function: Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor
    for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome

         Genatlas biochemistry entry for ITGA6:
    integrin,alpha 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,component of VLA-6 receptor and of hemidesmosomes,mediating cell-extracellular matrix interactions also
    involved in the fertilization of ova and embryonic development,dimerizing with ITGB1 (laminin receptor) or ITGB4
    (component of hemidesmosome)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005515protein binding IPI--
    GO:0046872metal ion binding IEA--
         
    ITGA6 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ITGA6:
     Decreased focal adhesion (FA)   Increased S DNA content  Increased cell number in G1, s  Increased cilium length after  
     S arrest 

         15/19 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Itga6) (see all 19):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  other 

    ITGA6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itga6tm1Egl for ITGA6

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITGA6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ITGA6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITGA6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITGA6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA6
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA6 (see all 53):
    hsa-miR-3164 hsa-miR-300 hsa-miR-199a-3p hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidITGA6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ITGA6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITGA6
    Sirion Biotech Customized adenovirus for overexpression of ITGA6

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ITGA6 (see all 11)
    OriGene ORF clones in mouse, rat for ITGA6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ITGA6 (NM_001079818)
    Sino Biological Human cDNA Clone for ITGA6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA6
    Sirion Biotech Customized lentivirus for stable overexpression of ITGA6 
                         Customized lentivirus expression plasmids for stable overexpression of ITGA6 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ITGA6
    Search LifeMap BioReagents cell lines for ITGA6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA6


    (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 ITGA6 About   (see all 39)                                                                                              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 ITGA6
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGA6 (see all 33)
        RhoA Pathway
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    CDK5 Pathway
    Tec Kinases Signaling

    2 Cell Signaling Technology (CST) Pathways for ITGA6
        Angiogenesis
    Adhesion

    1 GeneGo (Thomson Reuters) Pathway for ITGA6
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    5/8 BioSystems Pathways for ITGA6 (see all 8)
        Focal Adhesion
    Integrin-mediated cell adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy
    a6b1 and a6b4 Integrin signaling


    5/13        Reactome Pathways for ITGA6 (see all 13)
        Hemostasis
    Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Extracellular matrix organization


    5/12         Kegg Pathways  (Kegg details for ITGA6) (see all 12):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Cell adhesion molecules (CAMs)
    Hematopoietic cell lineage


    ITGA6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITGA6

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

    5/162 Interacting proteins for ITGA6 (P232291, 2, 3 ENSP000003868964) via UniProtKB, MINT, STRING, and/or I2D (see all 162)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB1P055562, 3, ENSP000003640944MINT-8407185 I2D: score=5 STRING: ENSP00000364094
    CD63P089622, 3, ENSP000002578574MINT-8407185 I2D: score=2 STRING: ENSP00000257857
    ITGB4P161441, 3, ENSP000002001814EBI-2436548,EBI-948678 I2D: score=2 STRING: ENSP00000200181
    PDIA3P301012, 3MINT-4301321 I2D: score=1 
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007044cell-substrate junction assembly TAS9185503
    GO:0007155cell adhesion ----
    GO:0007160cell-matrix adhesion IEA--
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0007596blood coagulation TAS--

    ITGA6 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

    ITGA6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ITGA6 (ITA6)

    10/18 Novoseek inferred chemical compound relationships for ITGA6 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 76.2 3 17129354 (1), 8705822 (1), 7551559 (1)
    sikvav 63 2 17591960 (1), 17235355 (1)
    matrigel 57.5 5 12356873 (1), 1280276 (1), 16154099 (1), 19405119 (1) (see all 5)
    yigsr 54.2 1 8035652 (1)
    hpvs 25.6 1 16376962 (1)
    retinoic acid 21.6 7 8704182 (3), 17379860 (1), 16261612 (1), 8609714 (1) (see all 5)
    heparan sulfate 15 3 16376962 (2)
    herbimycin a 13.1 1 9358755 (1)
    retinoid 4.27 1 9024307 (1)
    agarose 0 1 8929432 (1)

    Search CenterWatch for drugs/clinical trials and news about ITGA6 / ITA6

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 ITGA6 gene (2 alternative transcripts): 
    NM_000210.2  NM_001079818.1  

    Unigene Cluster for ITGA6:

    Integrin, alpha 6
    Hs.133397  [show with all ESTs]
    Unigene Representative Sequence: NM_000210
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000412899 ENST00000409532 ENST00000264107 ENST00000442250(uc010fql.2 uc010fqk.1)
    ENST00000458358 ENST00000409080 ENST00000497107 ENST00000416789 ENST00000469534
    ENST00000470259 ENST00000475302 ENST00000264106(uc002uhp.1) ENST00000375221(uc002uho.1)
    ENST00000343713(uc010zdy.1 uc010fqm.1)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA6
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate ITGA6 (see all 53):
    hsa-miR-3164 hsa-miR-300 hsa-miR-199a-3p hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-105 hsa-miR-4275
    SwitchGear 3'UTR luciferase reporter plasmidITGA6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITGA6
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ITGA6 (NM_001079818)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA6
    Sirion Biotech Customized lentivirus for stable overexpression of ITGA6 
                         Customized lentivirus expression plasmids for stable overexpression of ITGA6 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ITGA6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ITGA6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGA6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGA6

    Additional mRNA sequence: 

    AB208842.1 AF401206.1 AK294436.1 AK296496.1 AK307777.1 AK311695.1 BC007002.1 BC050585.1 
    BC136455.1 BC136456.1 DQ858220.1 EF491782.1 EF491790.1 EF491812.1 S66196.1 S66213.1 
    X53586.1 X59512.1 

    16 DOTS entries:

    DT.100797201  DT.95166149  DT.65285734  DT.449080  DT.120966874  DT.95360545  DT.92449387  DT.86852253 
    DT.120966835  DT.100797203  DT.120966832  DT.100797199  DT.40249838  DT.120966784  DT.418472  DT.95166144 

    24/359 AceView cDNA sequences (see all 359):

    AA316992 AI921227 BE042852 BQ224040 BU619964 CD652460 AW590978 AI745043 
    BU742227 BM800707 AI857933 AA814514 BM728447 BU633166 BM713014 BQ881383 
    AI656174 AA373973 AW337209 BU629997 AI049679 BU729088 AA961055 AA353560 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ITGA6 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a ·
    SP1:                                                                                                                                                  -     -   
    SP2:                                                                                                                                                  -     -   
    SP3:                                                                                                                                            -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b
    SP1:                          -                                 
    SP2:                          -           -     -               
    SP3:                          -                                 
    SP4:                          -                                 
    SP5:                                                            


    ECgene alternative splicing isoforms for ITGA6

    (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

    ITGA6 expression in normal human tissues (normalized intensities)      ITGA6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAGAAATT
    ITGA6 Expression
    About this image


    ITGA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 7 entries
             Inner Cell Mass Cells Inner Cell Mass
             HSF-1 (UC01)
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             4-Cell Embryo Zygote
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 5 entries
             4-Cell Embryo Zygote
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Intermediate Keratinocytes Embryonic Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    See ITGA6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITGA6

    SOURCE GeneReport for Unigene cluster: Hs.133397

    UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229
    Tissue specificity: Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment
    X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon,
    duodenum, myoblasts and myotubes, and in a limited number of cell lines; they are always coexpressed with the
    ubiquitous isoform containing segment X1. In some tissues (e.g. Salivary gland), isoforms containing cytoplasmic
    segment A and isoforms containing segment B are detected while in others, only isoforms containing one
    cytoplasmic segment are found (segment A in epidermis and segment B in kidney)

        SABiosciences Expression via Pathway-Focused PCR Arrays including ITGA6: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat
              Mesenchymal Stem Cell 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 ITGA6

    (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 ITGA6 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itga61 , 5 integrin alpha 61, 5 85.81(n)1
    91.9(a)1
      2 (42.79 cM)5
    164031  NM_008397.31  NP_032423.21 
     717456165 
    chicken
    (Gallus gallus)
    Aves ITGA61 integrin, alpha 6 72.59(n)
    72.36(a)
      396226  NM_205289.1  NP_990620.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITGA66
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343353.1(149469-212940)
    African clawed frog
    (Xenopus laevis)
    Amphibia INTA62 integrin alpha 6 subunit 75.99(n)    L35051.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itga6a1 integrin, alpha 6a 63.48(n)
    64.55(a)
      503893  NM_001144781.1  NP_001138253.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mew3 wing morphogenesis cell adhesion
    receptor
    29(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea ina-13 Integrin alpha chain 27(a)   III(9240086-9244462)   --


    ENSEMBL Gene Tree for ITGA6 (if available)
    TreeFam Gene Tree for ITGA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITGA6 gene
    ITGA12  ITGA32  ITGA72  ITGA82  ITGAM2  ITGA112  ITGA22  ITGA52  
    ITGAE2  ITGAD2  ITGA2B2  ITGAV2  ITGAX2  ITGAL2  ITGA92  ITGA102  
    ITGA42  
    4 SIMAP similar genes for ITGA6 using alignment to 3 protein entries:     ITA6_HUMAN (see all proteins):
    ITGA7 variant protein    ITGA7    ITGA3    ITGA4

    ITGA6 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

    10/1942 SNPs in ITGA6 are shown (see all 1942)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505624841,2
    Cuntested1172702332(+) ACCCTC/TGTGTC 2 -- int10--------
    rs21416981,2
    C,F,H--172685064(-) TGGTTG/ACTGAA 2 -- us2k134Minor allele frequency- A:0.15NS EA NA WA CSA 3205
    rs1904725501,2
    --172685096(+) CTGGCC/TGAGTA 2 -- us2k10--------
    rs760585341,2
    C,F--172685231(+) TGCAAG/ATACTT 2 -- us2k12Minor allele frequency- A:0.07NA EA 240
    rs714152981,2
    C,F--172685443(+) CTGTGG/AGGACC 2 -- us2k13Minor allele frequency- A:0.04NA 124
    rs1409997871,2
    --172685452(+) CCCTTA/GATGAT 2 -- us2k10--------
    rs730234721,2
    C,F--172685464(+) TTCACG/ACAGCT 2 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1467500861,2
    --172685590(+) TTCCAA/GTGCAG 2 -- us2k10--------
    rs1488334351,2
    --172685706(+) ACCATG/TGGGTT 2 -- us2k10--------
    rs1434570981,2
    --172685832(+) ATATAG/TGCTTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITGA6 (173292082 - 173371181 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ITGA6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677918CNV Deletion23128226
    esv269531CNV Insertion20981092
    esv272846CNV Insertion20981092
    nsv875414CNV Gain21882294


    Human Gene Mutation Database (HGMD): ITGA6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGA6
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGA6

    (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: 147556   
    OMIM disorders: 226730  
    UniProtKB/Swiss-Prot: ITA6_HUMAN, P23229
  • 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

  • 20/74 diseases for ITGA6 (see all 74):    About MalaCards
    itga6-related epidermolysis bullosa with pyloric atresia    epidermolysis bullosa with pyloric atresia    bullous skin disease    duodenal atresia
    cicatricial pemphigoid    ocular cicatricial pemphigoid    mucous membrane pemphigoid    aplasia cutis congenita
    junctional epidermolysis bullosa    bullous pemphigoid    gastrointestinal stromal tumor    epidermolysis bullosa
    pyloric stenosis    vernal keratoconjunctivitis    adenomyosis    colon adenocarcinoma
    keratoconjunctivitis    cutaneous malignant melanoma    duodenitis    fibrosarcoma

    3 diseases from the University of Copenhagen DISEASES database for ITGA6:
    Epidermolysis bullosa     Bullous pemphigoid     Cancer

    ITGA6 for disorders           About GeneDecksing

    10/51 Novoseek inferred disease relationships for ITGA6 gene (see all 51)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyloric atresia 88.4 7 14675179 (2), 18779879 (1), 9546354 (1), 18955862 (1) (see all 6)
    epidermolysis bullosa junctional 82.9 6 18779879 (1), 9158140 (1), 9804362 (1), 14675179 (1) (see all 6)
    eb-pa 81.3 2 9892956 (1), 11328943 (1)
    lethal junctional epidermolysis bullosa 73.1 1 14675179 (1)
    pemphigoid bullous 71.3 17 11669480 (2), 16126949 (2), 9205513 (1), 9389789 (1) (see all 14)
    epidermolysis bullosa 69.5 10 8712842 (3), 9742403 (1), 9546354 (1), 1694890 (1) (see all 6)
    pemphigoid cicatricial 61.4 1 16810295 (1)
    ocular cicatricial pemphigoid 41 1 16810295 (1)
    metastasis 37.9 22 15679046 (4), 8105045 (4), 7681030 (2), 10048983 (1) (see all 13)
    tumors 35.3 50 7586806 (4), 7681030 (2), 8344495 (2), 10717240 (2) (see all 28)

    GeneTests: ITGA6
    GeneReviews: ITGA6
    Genetic Association Database (GAD): ITGA6
    Human Genome Epidemiology (HuGE) Navigator: ITGA6 (11 documents)

    Export disorders for ITGA6 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 ITGA6 gene, integrated from 9 sources (see all 436):
    (articles sorted by number of sources associating them with ITGA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common polymorphisms in ITGA2, PON1 and THBS2 are ass ociated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PubMed id 20485444)1, 4 Wang Y....Huang W. (2010)
    2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    3. Prostate cancer risk-associated variants reported fro m genome-wide association studies: meta-analysis and their contribution to gene tic Variation. (PubMed id 20564319)1, 4 Kim S.T....Sun J. (2010)
    4. Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for pros tate cancer. (PubMed id 20878950)1, 4 Sun J....Xu J. (2010)
    5. Identification of seven new prostate cancer susceptib ility loci through a genome-wide association study. (PubMed id 19767753)1, 4 Eeles R.A....Cao G. (2009)
    6. Polymorphisms in predicted microRNA binding sites in integrin genes and breast cancer: ITGB4 as prognostic marker. (PubMed id 18550570)1, 4 Brendle A....Forsti A. (2008)
    7. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    8. An alternatively spliced exon in the extracellular domain of the human alpha 6 integrin subunit -- functional analysis of the alpha 6 integrin variants. (PubMed id 7583007)1, 2 Delwel G.O.... Sonnenberg A. (1995)
    9. The role of phosphorylation in activation of the alpha 6A beta 1 laminin receptor. (PubMed id 8360143)1, 2 Hogervorst F.... Sonnenberg A. (1993)
    10. Alternative extracellular and cytoplasmic domains of the integrin alpha 7 subunit are differentially expressed during development. (PubMed id 8253814)1, 2 Ziober B.L.... Kramer R.H. (1993)

    (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: 3655 HGNC: 6142 AceView: ITGA6 Ensembl:ENSG00000091409 euGenes: HUgn3655
    ECgene: ITGA6 Kegg: 3655 H-InvDB: ITGA6

    (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 ITGA6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITGA6 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ITGA6 gene:
    Search GeneIP for patents involving ITGA6

    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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