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FLASH GENE
Symbol COL9A3 contributors: - updated : 30-04-2007
HGNC name collagen, type IX, alpha 3
HGNC id 2219
Corresponding disease
EDM3 epiphyseal dysplasia multiple 3
Location 20q13.3      Physical location : 61.448.413 - 61.472.510
Synonym name
  • collagen type IX proteoglycan
  • collagen alpha-3
  • collagen IX, alpha-3 polypeptide
    • Synonym symbol(s) DJ885L7.4.1, FLJ90759, IDD, MED
    DNA
    TYPE functioning gene
    STRUCTURE 24.00 kb     32 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S171 - D20S173 - D20S93 - D20S15 - D20S73 - COL9A3 - D20S19 - D20S24 - D20S26 - qter
    Authors Tiller (98)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunetonsils   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilagehyaline  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cartilage
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibril associated collagen with interrupted triple helices (FACIT)
    • family
  • thrombospondin N terminal-like domain
    • mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • collagen superfamily
  • fibril-associated collagens with interrupted helices (FACIT) family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text ocular vitreous extracellular matrix
    basic FUNCTION
  • essential for the assembly of type IX collagen molecules and of extracellular matrix
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component heterotrimerizing with COL9A1 and COL9A2
    INTERACTION
    DNA
    RNA
    small molecule
    protein COLI, COLII fibers
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDM3
    Susceptibility to lumbar disk disease
    Variant & Polymorphism other ARg103->TRP risk factor for lumbar disk disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS