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FLASH GENE
Symbol ITGA8 contributors: mct - updated : 11-03-2016
HGNC name integrin, alpha 8
HGNC id 6144
Corresponding disease
BRA1 bilateral renal agenesis 1
Location 10p13      Physical location : 15.559.087 - 15.761.770
DNA
TYPE functioning gene
STRUCTURE 202.00 kb     30 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • ITGA8 expression is CArG-SRF independent, but MYOCD dependent through an as yet unknown sequence module that is distal from the promoter region
  • MAPPING cloned Y linked N status provisional
    Physical map
    C10orf45 10p14 chromosome 10 open reading frame 45 LOC283071 10p14 similar to hypothetical protein 9330140G23 HSP70-4 10p14 likely ortholog of mouse heat shock protein, 70 kDa 4 SUV39H2 10p13 suppressor of variegation 3-9 homolog 2 (Drosophila) DCLRE1C 10p14-p13 DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) LOC389940 10 similar to seven transmembrane helix receptor FLJ11106 10p13 hypothetical protein FLJ11106 LOC387634 10 similar to Acyl-CoA-binding protein (ACBP) (Diazepam binding inhibitor) (DBI) (Endozepine) (EP) MGC35468 10p13 hypothetical protein MGC35468 RPP38 10p13 ribonuclease P (38kD) NMT2 10p12.33-p12.32 N-myristoyltransferase 2 LOC221061 10p13 hypothetical protein LOC221061 ITGA8 10p13 integrin, alpha 8 FLJ13397 10p13 hypothetical protein FLJ13397 PTER 10p12 phosphotriesterase related LOC389941 10 similar to Gliacolin RSU1 10p13 Ras suppressor protein 1 CUBN 10p12.1 cubilin (intrinsic factor-cobalamin receptor) DNMT2 10p15.1 DNA (cytosine-5-)-methyltransferase 2 VIM 10p13 vimentin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 3261 - 1063 - Scherberich (2005)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Reproductivemale systemprostate   
    Respiratorylungalveoli   
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel   Homo sapiens
    Muscularstriatumcardiacmyocardium 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Muscularmyoblast
    Urinarymesangial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text developing kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • extracellular heavy chain with seven FG-GAP repeats
  • 13 N-glycosylation sites
  • three calcium binding sites, a cell attachment site, linked by a disulfide bond to a light chain with an extracellular domain with two N-glycosylation sites
  • a transmembrane and a cytoplasmic domain
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Itga8
    homolog to rattus Rn.69726
    homolog to Drosophila scb
    homolog to C.elegans F54F2.1
    Homologene
    FAMILY integrin alpha chain family
    CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in cell-cell adhesion and cell- matrix adhesion
  • implicated in cardiac fibrosis
  • the influence of ITGA8 on the expression of matrix components was not uniform and celltype dependent, and seems unlikely to exert overall profibrotic effects in renal cells
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    text kidney morphogenesis
    PATHWAY
    metabolism
    signaling
    a component ITGA8 and ITGB1
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to fibronectin (FN1), vitronectin, tenascin (by their RGD sites)
    cell & other
    REGULATION
    induced by in response to pro-hypertrophic and pro-fibrotic agent angiotensin II
    ASSOCIATED DISORDERS
    corresponding disease(s) BRA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    associated with increased cardiac interstitial fibrosis
    tumoral     --low  
    by aberrant promoter methylation in ovarian cancers (Cai 2007)
    constitutional germinal mutation      
    in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)
    Susceptibility
  • to hypertrophic cardiomyopathy
  • to modification of the progression of renal failure in autosomal-dominant polycystic kidney disease (ADPK
  • Variant & Polymorphism other
  • modifier gene of MYBPC3, in hypertrophic cardiomyopathy
  • polymorphism of the ITGA8 promoter modifies the progression of renal failure in ADPKD
  • Candidate gene
    Marker
  • ITGA2B, ITGA8, GIT1, and SHC1 were identified as independent prognostic factors of overall survival of clear cell renal cell carcinoma
  • Therapy target
    ANIMAL & CELL MODELS
  • mice deficient for ITGA8 have structural alterations in glomeruli but not in renal arteries