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FLASH GENE
Symbol ITGA7 contributors: - updated : 17-01-2006
HGNC name integrin, alpha 7
HGNC id 6143
Corresponding disease
ITGA7 congenital myopathy with delayed motor milestones
Location 12q13.3      Physical location : 56.078.355 - 56.106.089
DNA
TYPE functioning gene
STRUCTURE 23.00 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
LOC341415 12q13.13 similar to Heat shock factor protein 2 (HSF 2) (Heat shock transcription factor 2) (HSTF 2) LOC390317 12 similar to olfactory receptor MOR210-3 LOC390318 12 similar to olfactory receptor GA_x6K02T2LVGG-5968-6912 LOC121364 12q13.13 similar to Olfactory receptor 10A7 LOC254783 12q13.13 similar to olfactory receptor MOR109-1 LOC390319 12 similar to olfactory receptor MOR113-1 LOC283365 12q13.13 similar to olfactory receptor GA_x6K02T2PULF-11031172-11032116 LOC390320 12 similar to olfactory receptor GA_x6K02T2PULF-10924432-10925370 LOC390321 12 similar to olfactory receptor MOR111-1 LOC254786 12q13.13 similar to olfactory receptor MOR111-4 LOC390322 12 similar to olfactory receptor MOR111-4 LOC390323 12 similar to olfactory receptor MOR112-1 LOC390324 12 similar to olfactory receptor MOR109-1 LOC390325 12 similar to olfactory receptor GA_x6K02T2PULF-11304679-11303744 LOC283368 12q13.13 similar to Polyhomeotic-like protein 1 (Early development regulator protein 1) (HPH1) LOC390326 12 similar to olfactory receptor MOR108-4 LOC341416 12q13.13 similar to olfactory receptor MOR114-1 LOC390327 12 similar to olfactory receptor GA_x6K02T2PULF-11553313-11552381 LOC390328 12 similar to olfactory receptor MOR114-12 LOC341418 12q13.13 similar to Olfactory receptor 6C4 LOC121129 12q13.13 similar to seven transmembrane helix receptor LOC390329 12 similar to seven transmembrane helix receptor LOC121130 12q13.13 similar to seven transmembrane helix receptor PSMB3P 12q12 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene MGC17301 12q13.13 hypothetical protein MGC17301 ITGA7 12q13.3 integrin, alpha 7 GCN5L1 12q13-q14 GCN5 general control of amino-acid synthesis 5-like 1 (yeast) RDH5 12q13-q14 retinol dehydrogenase 5 (11-cis and 9-cis) CD63 12q12-q13 CD63 antigen (melanoma 1 antigen) GDF11 12q12 growth differentiation factor 11 CIP29 12q13.13 cytokine induced protein 29 kDa ORMDL2 12q12 ORM1-like 2 (S. cerevisiae) DNAJ 12q13.13 DnaJ protein MMP19 12q14 matrix metalloproteinase 19 PYM 12q13.13 PYM protein DGKA 12q13.3 diacylglycerol kinase, alpha 80kDa SILV 12q13-q14 silver homolog (mouse) CDK2 12q13.3 cyclin-dependent kinase 2 SUOX RAB5B 12q13 RAB5B, member RAS oncogene family ZNFN1A4 12q13 zinc finger protein, subfamily 1A, 4 (Eos) RPS26 12q14 ribosomal protein S26 ERBB3 12q13.3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) PA2G4 12q13 proliferation-associated 2G4, 38kDa RPL41 12q14 ribosomal protein L41 FLJ14451 12q13.13 hypothetical protein FLJ14451
RNA
TRANSCRIPTS type messenger
text with two alternatively spliced isoforms (cardiac and skeletal)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , dimer
HOMOLOGY
Homologene
FAMILY integrin family
CATEGORY adhesion , receptor membrane
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
text
  • sarcolemmal
  • type I membrane protein
  • colocalized with FHL2 and FHL3 at the periphery of Z-discs
  • basic FUNCTION
  • 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
  • playing a role in mechanical stabilization of muscle cells
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component dimerizing with ITGB1 in laminin receptor
    INTERACTION
    DNA
    RNA
    small molecule
    protein specific cellular receptor for the basement membrane protein laminin-1
    cell & other
    REGULATION
    Other developmentally regulated during the formation of skeletal muscle cell
    ASSOCIATED DISORDERS
    corresponding disease(s) ITGA7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS