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

ITGA7 Gene

protein-coding   GIFtS: 68
GCID: GC12M056078

Integrin, Alpha 7

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

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, and among its related super-pathways are Integrin-mediated cell adhesion and Hypertrophic cardiomyopathy (HCM). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ITGA7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • UniProtKB: ADP-ribosylated on at least two sites of the extracellular domain in skeletal myotubes (By similarity)
  • UniProtKB: 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 laminin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13683

  • ITGA7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITGA7 Protein Expression
    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
    Human Recombinant Protein Products for ITGA7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ITGA7 for ontologies           About GeneDecksing



    ITGA7 Antibody Products: 
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    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: 
    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


    ITGA7 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    ITGA7 for ontologies           About GeneDecksing


    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  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  skeleton 

    ITGA7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itga7tm1Umr for ITGA7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITGA7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ITGA7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITGA7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITGA7 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITGA7
    7 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ITGA7
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    Gene Editing
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    Clone
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of ITGA7 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA7


    (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 ITGA7 About   (see all 22)                                                                                              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
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    ECM proteoglycans0.38
    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 ITGA7
        Cell adhesion Integrin-mediated cell adhesion and migration

    5/33 Downloadable PowerPoint Slides of QIAGEN 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


    4        Reactome Pathways for ITGA7
        ECM proteoglycans
    Extracellular matrix organization
    Integrin cell surface interactions
    Signal Transduction


    5/7         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)


    ITGA7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITGA7

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

    5/100 Interacting proteins for ITGA7 (Q136832, 3 ENSP000002578794) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FHL2Q141922, 3, ENSP000003229094MINT-17127 MINT-17128 I2D: score=5 STRING: ENSP00000322909
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    ITGB1P055563, ENSP000003640944I2D: score=2 STRING: ENSP00000364094
    CHRNA1P027083, ENSP000002610074I2D: score=2 STRING: ENSP00000261007
    FHL3Q136433, ENSP000003621074I2D: score=2 STRING: ENSP00000362107
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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--

    ITGA7 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

    ITGA7 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about ITGA7 / ITA7

    (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 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
    18/23 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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    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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    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 

    24/85 AceView cDNA sequences (see all 85):

    AI422008 AI973167 AY358508 NM_152637 BG164318 BF196751 T60926 BC020509 
    BM801575 CR595874 AI422973 AI147742 BU624323 CD517355 BU173571 AW024170 
    AI096778 BU602619 AI419404 AA701542 BG181091 BG569567 BE869434 BG988461 

    GeneLoc Exon Structure

    5/11 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™, 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

    ITGA7 expression in normal human tissues (normalized intensities)      ITGA7 embryonic expression: see
    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 
     5/35 selected tissues (see all 35) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 19 entries
             Muscle Satellite Cells Lumbar Muscle Satellite Pool
             skeletal muscle ; myocytes   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Lateral Ventricle
             Olfactory Bulb   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             rectum ; glandular cells   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Epithelium
             oral mucosa ; squamous epithelial cells   

    See ITGA7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITGA7

    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

        SABiosciences Expression via Pathway-Focused 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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA7

    (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 ITGA7 gene from 5/12 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 84.63(n)1
    86.66(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 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaPS53
    mew1
    cell-matrix adhesion cell adhesion
    receptor3
    multiple edematous wings1
    31(a)
    (best of 3)3
    46.93(n)1
    35.56(a)1
      59E43
    322751  NM_078590.21  NP_511145.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ina-11 , 3 Integrin alpha chain3
    Protein INA-11
    26(a)3
    41.37(n)1
    30.75(a)1
      III(9240086-9244462)3
    1762961  NM_066631.31  NP_499032.11 


    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)
    About This Section
    Paralogs for ITGA7 gene
    ITGA12  ITGA62  ITGA32  ITGA82  ITGAM2  ITGA112  ITGA22  ITGA52  
    ITGAE2  ITGAD2  ITGA2B2  ITGAV2  ITGAX2  ITGAL2  ITGA92  ITGA102  
    ITGA42  
    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

    ITGA7 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

    10/792 SNPs in ITGA7 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (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: 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

  • 20 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    duchenne muscular dystrophy
    congenital muscular dystrophy    myopathy    esophageal adenocarcinoma    leiomyosarcoma
    hypotonia    muscular dystrophy    hypertrophic cardiomyopathy    dilated cardiomyopathy
    glioblastoma    neuroblastoma    neuropathy    esophagitis
    prostate cancer    prostatitis    adenocarcinoma    neuronitis

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

    ITGA7 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ITGA7 gene, integrated from 9 sources (see all 89):
    (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. (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. (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. (1993)
    4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    5. Genetically determined proteolytic cleavage modulates alpha7beta1 integrin function. (PubMed id 18940796)1, 2 Liu J....Kaufman S.J. (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. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (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. (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. (1999)

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

    (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 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.)
    About This Section
    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



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    About This Section

     
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