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FLASH GENE
Symbol COL4A4 contributors: mct/npt - updated : 05-01-2010
HGNC name collagen, type IV, alpha 4
HGNC id 2206
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 38-residue putative signal peptide
  • a short N-terminal triple-helical 7S domain
  • a 1421-residue collagenous domain wih frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix)
  • hydroxylation of prolines at the third position of the tripeptide repeating unit (G-X-Y) in some or all of the chains
  • two COL4C (collagen IV C-terminal) domains
    • conjugated GlycoP , Other
    HOMOLOGY
    interspecies ortholog to murine Col4a4
    homolog to C. elegans let-2
    Homologene
    FAMILY
  • type IV collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • glomerular basement membrane
  • distal TBM
  • neuromuscular junction
  • extracellular matrix
    • basic FUNCTION
  • a potential role in dermoepidermal junction (DEJ) formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • being the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATS2 , FBH , ATS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS