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FLASH GENE
Symbol COL11A2 contributors: npt/ - updated : 13-03-2007
HGNC name collagen, type XI, alpha 2
HGNC id 2187
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal region alpha 1 NPP forming a globular head
  • triple helix repeat
  • an extended tail at the variable C terminal
    • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col11a2
    Homologene
    FAMILY
  • fibrillar collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix, ocular vitreous body
    basic FUNCTION
  • involved in regulation of fibrillogenesis
  • playing an essential role in maintaining the interfibrillar spacing and fibril diameter of type II collagen
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • alpha 2 chain XI, heterotrimerizing with alpha 1 XI and alpha 3 XI, a post translationally modified variant of COL2A1
  • constituent of fibril forming
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STL3 , OSMED , DFNA13 , DFNB53 , WZS
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS