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ITGA7 Gene

protein-coding   GIFtS: 69
GCID: GC12M056078

Integrin, Alpha 7

  See ITGA7-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, Alpha 71 2
Integrin Alpha 7 Chain2
Integrin Alpha-72

External Ids:    HGNC: 61431   Entrez Gene: 36792   Ensembl: ENSG000001354247   OMIM: 6005365   UniProtKB: Q136833   

Export aliases for ITGA7 gene to outside databases

Previous GC identifers: GC12M056002 GC12M056151 GC12M055795 GC12M054364 GC12M053117


(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 ITGA7 Gene:
The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral
membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and
cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and
metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly
expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during
myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript
variants encoding different isoforms have been noted for this gene. (provided by RefSeq, Feb 2009)

GeneCards Summary for ITGA7 Gene:
ITGA7 (integrin, alpha 7) is a protein-coding gene. Diseases associated with ITGA7 include muscular dystrophy, congenital, due to itga7 deficiency, and congenital muscular dystrophy due to integrin alpha-7 deficiency. GO annotations related to this gene include protein heterodimerization activity and cell adhesion molecule binding. An important paralog of this gene is ITGA1.

UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683
Function: Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers.
During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate
their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the
myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B
and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less
active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and
mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote
contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells

Gene Wiki entry for ITGA7 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITGA7 gene promoter:
         E2F-3a   E2F-4   E2F-5   C/EBPbeta   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITGA7 promoter sequence
   Search Chromatin IP Primers for ITGA7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITGA7


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13

ITGA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGA7 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056078:  view genomic region     (about GC identifiers)

Start:
56,078,352 bp from pter      End:
56,109,827 bp from pter
Size:
31,476 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683 (See protein sequence)
Recommended Name: Integrin alpha-7 precursor  
Size: 1181 amino acids; 128948 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-7 associates with beta-1. Interacts with COMP (By similarity)
Developmental stage: In renewing intestinal epithelium, expression of isoforms containing segment B correlates
with the onset of enterocytic differentiation
Secondary accessions: B4E3U0 C9JMD3 C9JMZ6 O43197 Q86W93 Q9NY89 Q9UET0 Q9UEV2
Alternative splicing: 6 isoforms:  Q13683-1   Q13683-3   Q13683-7   Q13683-9   Q13683-10   Q13683-13   (Gene prediction based on similarity to mouse ortholog)

Explore the universe of human proteins at neXtProt for ITGA7: NX_Q13683

Explore proteomics data for ITGA7 at MOPED

Post-translational modifications: 

  • ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes (By similarity)1
  • A 70 kDa form is created by proteolytic cleavage. Cleavage is elevated during myogenic differentiation and the
    cleaved form enhances cell adhesion and spreading on laminin1
  • Ubiquitination2 at Lys1126
  • Glycosylation2 at Asn86, Asn786, Asn989, Asn1025, Asn1045
  • Modification sites at PhosphoSitePlus

  • See ITGA7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138468.1  NP_001138469.1  NP_002197.2  

    ENSEMBL proteins: 
     ENSP00000452120   ENSP00000257879   ENSP00000450693   ENSP00000343009   ENSP00000393844  
     ENSP00000452387   ENSP00000451039   ENSP00000450679   ENSP00000450578   ENSP00000451311  
     ENSP00000452043   ENSP00000452467   ENSP00000450798   ENSP00000257880   ENSP00000377777  
     ENSP00000377776  
    Reactome Protein details: Q13683

    ITGA7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ITGA7
    GenScript Custom Purified and Recombinant Proteins Services for ITGA7
    Novus Biologicals ITGA7 Protein
    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 ITGA7 

     
    antibodies-online proteins for ITGA7 (2 products) 

     
    antibodies-online peptides for ITGA7

    ITGA7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ITGA7 (Integrin alpha 7)
    OriGene Antibodies for ITGA7
    OriGene Custom Antibody Services for ITGA7
    Novus Biologicals ITGA7 Antibodies
    Abcam antibodies for ITGA7
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for ITGA7
    antibodies-online antibodies for ITGA7 (48 products) 

    ITGA7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ITGA7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITGA7
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ITGA7 
    antibodies-online kits for ITGA7 (6 products) 


    (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

    5 InterPro protein domains:
     IPR000413 Integrin_alpha
     IPR018184 Integrin_alpha_C_CS
     IPR013649 Integrin_alpha-2
     IPR013519 Int_alpha_beta-p
     IPR013517 FG-GAP

    Graphical View of Domain Structure for InterPro Entry Q13683

    ProtoNet protein and cluster: Q13683

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


    UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683
    Similarity: Belongs to the integrin alpha chain family
    Similarity: Contains 7 FG-GAP repeats


    Find genes that share domains with ITGA7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: ITA7_HUMAN, Q13683
    Function: Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers.
    During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate
    their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the
    myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B
    and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less
    active on laminin 1 (In vitro). Acts as Schwann cell receptor for laminin-2. Acts as a receptor of COMP and
    mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote
    contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells

         Genatlas biochemistry entry for ITGA7:
    integrin,alpha 7, 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,developmentally regulated during the formation of skeletal muscle cell ,sarcolemmal protein,dimerizing with
    ITGB1 in laminin receptor

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005515protein binding ----
    GO:0043236laminin binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with ITGA7           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ITGA7:
     Decreased Hepatitis C virus re  Increased cell number in G2M,  

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Itga7):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  skeleton 

    Find genes that share phenotypes with ITGA7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Itga7tm1Umr for ITGA7

       genOway: Develop your customized and physiologically relevant rodent model for ITGA7

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITGA7:
    hsa-mir-615-3p (MIRT040010)

    Block miRNA regulation of human, mouse, rat ITGA7 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ITGA7:
    hsa-miR-3671 hsa-miR-3910 hsa-miR-124 hsa-miR-3121-3p hsa-miR-506 hsa-miR-545 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidITGA7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITGA7
    Predesigned siRNA for gene silencing in human, mouse, rat ITGA7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ITGA7

    Clone
    Products:
         
    OriGene clones in human, mouse for ITGA7 (see all 16)
    OriGene ORF clones in mouse, rat for ITGA7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITGA7 (NM_001144996)
    Sino Biological Human cDNA Clone for ITGA7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA7

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ITGA7
    Browse ESI BIO Cell Lines and PureStem Progenitors for ITGA7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA7


    (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
    ITA7_HUMAN, Q13683: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005927muscle tendon junction IEA--
    GO:0008305integrin complex ----
    GO:0009986cell surface IEA--

    Find genes that share ontologies with ITGA7           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 ITGA7 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
    MAPK Signaling0.58
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51


    Find genes that share SuperPaths with ITGA7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ITGA7 (see all 33)
        RhoA Pathway
    Paxillin Interactions
    Molecular Mechanisms of Cancer
    CDK5 Pathway
    Tec Kinases Signaling

    1 GeneGo (Thomson Reuters) Pathway for ITGA7
        Cell adhesion Integrin-mediated cell adhesion and migration

    3 BioSystems Pathways for ITGA7
        Focal Adhesion
    Integrin-mediated cell adhesion
    Arrhythmogenic right ventricular cardiomyopathy


    3 Reactome Pathways for ITGA7
        ECM proteoglycans
    Laminin interactions
    Integrin cell surface interactions


    Selected Kegg Pathways  (Kegg details for ITGA7) (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 ITGA7: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Focal Adhesions in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ITGA7

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

    Selected Interacting proteins for ITGA7 (Q136832, 3 ENSP000002578794) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FHL2Q141922, 3, ENSP000003229094MINT-17127 MINT-17128 I2D: score=5 STRING: ENSP00000322909
    FHL3Q136433, ENSP000003621074I2D: score=2 STRING: ENSP00000362107
    ITGB1P055563, ENSP000003640944I2D: score=2 STRING: ENSP00000364094
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    CHRNA1P027083, ENSP000002610074I2D: score=2 STRING: ENSP00000261007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion ----
    GO:0007160cell-matrix adhesion TAS9354797
    GO:0007229integrin-mediated signaling pathway IEA--
    GO:0007517muscle organ development TAS9354797
    GO:0007519skeletal muscle tissue development IEA--

    Find genes that share ontologies with ITGA7           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 ITGA7 (ITA7)

    1 Novoseek inferred chemical compound relationship for ITGA7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 0 2 15908587 (1), 20053730 (1)



    Find genes that share compounds with ITGA7           About GenesLikeMe



    (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 ITGA7 gene (3 alternative transcripts): 
    NM_001144996.1  NM_001144997.1  NM_002206.2  

    Unigene Cluster for ITGA7:

    Integrin, alpha 7
    Hs.524484  [show with all ESTs]
    Unigene Representative Sequence: NM_001144996
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000553804(uc009znw.3) ENST00000257879(uc009znx.3 uc001shg.3)
    ENST00000554327 ENST00000347027 ENST00000452168(uc010sps.2) ENST00000555728
    ENST00000557555 ENST00000557058 ENST00000557488 ENST00000556273 ENST00000554543
    ENST00000557257 ENST00000553276 ENST00000555687 ENST00000554724 ENST00000553737
    ENST00000556371 ENST00000553893
    miRNA
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    Block miRNA regulation of human, mouse, rat ITGA7 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ITGA7:
    hsa-miR-3671 hsa-miR-3910 hsa-miR-124 hsa-miR-3121-3p hsa-miR-506 hsa-miR-545 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidITGA7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ITGA7
    Clone
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    OriGene clones in human, mouse for ITGA7 (see all 16)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITGA7 (NM_001144996)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITGA7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITGA7
    Primer
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    OriGene qPCR primer pairs and template standards for ITGA7
    OriGene qSTAR qPCR primer pairs in human, mouse for ITGA7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITGA7
      QuantiTect SYBR Green Assays in human, mouse, rat ITGA7
      QuantiFast Probe-based Assays in human, mouse, rat ITGA7

    Additional mRNA sequence: 

    AB210036.1 AF032108.1 AF034833.1 AF052050.1 AF072132.1 AK022548.1 AK057949.1 AK304864.1 
    AY358882.1 BC050280.1 X74295.1 

    20 DOTS entries:

    DT.100033081  DT.213688  DT.121147490  DT.95162326  DT.441752  DT.100776157  DT.213689  DT.121147543 
    DT.91972940  DT.97792514  DT.100668725  DT.100776156  DT.121147542  DT.99961514  DT.91981868  DT.95246013 
    DT.100059454  DT.40217105  DT.91663911  DT.91685612 

    Selected AceView cDNA sequences (see all 85):

    BC020509 AI422008 AI147742 BU624323 NM_152637 AI422973 T60926 BF196751 
    CR595874 BG164318 AY358508 AI973167 BM801575 BG988461 AW068589 F28621 
    AI160724 AI827972 BQ877459 AI422013 BE551509 BU173571 BQ878806 BG181091 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ITGA7 (see all 11)    About this scheme

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

    ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
    SP1:                    -                                                                           
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for ITGA7

    (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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    ITGA7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGTAGGGTG
    ITGA7 Expression
    About this image


    ITGA7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 18 entries
             Muscle Satellite Cells Lumbar Muscle Satellite Pool
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Lateral Ventricle
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
    ITGA7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITGA7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524484

    UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683
    Tissue specificity: Isoforms containing segment A are predominantly expressed in skeletal muscle. Isoforms
    containing segment B are abundantly expressed in skeletal muscle, moderately in cardiac muscle, small intestine,
    colon, ovary and prostate and weakly in lung and testes. Isoforms containing segment X2D are expressed at low
    levels in fetal and adult skeletal muscle and in cardiac muscle, but are not detected in myoblasts and myotubes.
    In muscle fibers isoforms containing segment A and B are expressed at myotendinous and neuromuscular junctions;
    isoforms containing segment C are expressed at neuromuscular junctions and at extrasynaptic sites. Isoforms
    containing segments X1 or X2 or, at low levels, X1X2 are expressed in fetal and adult skeletal muscle (myoblasts
    and myotubes) and cardiac muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ITGA7: 
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              Focal Adhesions in human mouse rat
              Tumor Metastasis in human mouse rat

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

    Orthologs for ITGA7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itga71 , 5 integrin alpha 71, 5 86.17(n)1
    88.6(a)1
      10 (77.20 cM)5
    164041  NM_008398.21  NP_032424.21 
     1289338135 
    lizard
    (Anolis carolinensis)
    Reptilia ITGA76
    integrin, alpha 7
    60(a)
    1 ↔ 1
    GL343198.1(1937702-2010926)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.96142 Transcribed sequence with weak similarity to protein more 70.15(n)    137725744 
    zebrafish
    (Danio rerio)
    Actinopterygii itga76
    integrin, alpha 7
    54(a)
    1 ↔ 1
    11(141148-148254) ENSDARG00000089083
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaPS53 cell-matrix adhesion cell adhesion
    receptor
    31(a)
    (best of 3)
      59E4   --
    worm
    (Caenorhabditis elegans)
    Secernentea ina-13 Integrin alpha chain 26(a)   III(9240086-9244462)   --


    ENSEMBL Gene Tree for ITGA7 (if available)
    TreeFam Gene Tree for ITGA7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITGA7 gene
    ITGA12  ITGA62  ITGA32  ITGA82  ITGAM2  ITGA112  ITGA22  ITGA52  
    ITGAE2  ITGAD2  ITGA2B2  ITGAV2  ITGAX2  ITGAL2  ITGA92  ITGA42  
    ITGA102  
    6 SIMAP similar genes for ITGA7 using alignment to 11 protein entries:     ITA7_HUMAN (see all proteins):
    ITGA7 variant protein    ITGA6    ITGA2B    ITGA3    ITGA10    ITGA9

    Find genes that share paralogs with ITGA7           About GenesLikeMe



    (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 ITGA7 (see all 792)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113565951,2
    C--53134186(+) ATTAC-/TTTTTT 3 -- int1 trp32Minor allele frequency- T:0.25NA CSA 4
    rs1118626801,2
    C--53136020(+) TAGAT-/AC    
       
    /ACAC
    ACACA
    3 -- int11CSA 2
    rs573110801,2
    C--53136045(+) ACACA-/CACA  
     
    /CACACA
    TACAC
    6 -- int1 cds10--------
    rs22934091,2
    C,F,A,H--55911756(+) CACCTC/ACTAGT 3 -- ds500132Minor allele frequency- A:0.21EA NA NS WA CSA 4184
    rs1148765951,2
    C,F--55911849(+) CCCAGG/AGAGGA 3 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1918359291,2
    C--55911909(+) CCCAAC/TGTTTG 3 -- ds50010--------
    rs1828664151,2
    --55911910(+) CCAACA/GTTTGC 3 -- ds50010--------
    rs1399464521,2
    --55911940(+) CCTTCA/GTTCCC 3 -- ds50010--------
    rs1154474421,2
    C,F--55911955(+) TAAAGC/ATCCTC 3 -- ds50011Minor allele frequency- A:0.01WA 118
    rs10481031,2
    C,F,O,A,H--55911981(+) GGCTAT/CACCCA 3 -- ds500141Minor allele frequency- C:0.33EA MN NA NS WA CSA 5049

    HapMap Linkage Disequilibrium report for ITGA7 (56078352 - 56109827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ITGA7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469410CNV Loss19166990
    nsv525231CNV Loss19592680
    nsv832423CNV Gain17160897

    Human Gene Mutation Database (HGMD): ITGA7
    Locus Specific Mutation Databases (LSDB): ITGA7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITGA7
    DNA2.0 Custom Variant and Variant Library Synthesis for ITGA7

    (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: 600536   
    OMIM disorders: 613204  
    UniProtKB/Swiss-Prot: ITA7_HUMAN, Q13683
  • Muscular dystrophy congenital due to integrin alpha-7 deficiency (MDCI) [MIM:613204]: A form of
    congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia,
    muscle weakness and often with joint contractures. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for ITGA7:    
    About MalaCards
    muscular dystrophy, congenital, due to itga7 deficiency    congenital muscular dystrophy due to integrin alpha-7 deficiency    fukuyama congenital muscular dystrophy    congenital fiber-type disproportion

    1 disease from the University of Copenhagen DISEASES database for ITGA7:
    Muscular dystrophy

    Find genes that share disorders with ITGA7           About GenesLikeMe

    9 Novoseek inferred disease relationships for ITGA7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 75.4 10 9590299 (1), 10711985 (1), 16684813 (1), 19260934 (1) (see all 7)
    myopathy, congenital 74.9 5 9590299 (2), 19074617 (1), 11361006 (1)
    fukuyama congenital muscular dystrophy 71.7 1 10222457 (1)
    myopathy 40.9 2 16476707 (1), 11361006 (1)
    muscular dystrophy duchenne 32 4 16476707 (2)
    necrosis 0 1 16684813 (1)
    metastasis 0 4 17551147 (2), 16164832 (1)
    tumors 0 9 17551147 (5)
    melanoma 0 1 8567661 (1)

    Genatlas disease: ITGA7
    congenital myopathy with delayed motor milestones

    Genetic Association Database (GAD): ITGA7
    Human Genome Epidemiology (HuGE) Navigator: ITGA7 (1 document)

    Export disorders for ITGA7 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 ITGA7 gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with ITGA7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the integrin alpha7 gene cause congenital myopathy. (PubMed id 9590299)1, 2, 9 Hayashi Y.K....Arahata K. (Nat. Genet. 1998)
    2. The role of extracellular and cytoplasmic splice domains of alpha7- integrin in cell adhesion and migration on laminins. (PubMed id 10694445)1, 2, 9 Schoeber S.... von der Mark K. (Exp. Cell Res. 2000)
    3. Expression of alpha 7 integrin cytoplasmic domains during skeletal muscle development: alternate forms, conformational change, and homologies with serine/threonine kinases and tyrosine phosphatases. (PubMed id 8126096)1, 2, 9 Song W.K.... Kaufman S.J. (J. Cell Sci. 1993)
    4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    5. Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function. (PubMed id 18940796)1, 2 Liu J.... Kaufman S.J. (J. Biol. Chem. 2008)
    6. Laminin-binding integrin alpha7 is required for contractile phenotype expression by human airway myocytes. (PubMed id 17641293)1, 2 Tran T.... Halayko A.J. (Am. J. Respir. Cell Mol. Biol. 2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7). (PubMed id 10403775)1, 2 Vignier N....Guicheney P. (Biochem. Biophys. Res. Commun. 1999)

    (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: 3679 HGNC: 6143 AceView: MGC17301 Ensembl:ENSG00000135424 euGenes: HUgn3679
    ECgene: ITGA7 Kegg: 3679 H-InvDB: ITGA7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITGA7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITGA7 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 ITGA7 gene:
    Search GeneIP for patents involving ITGA7

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



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