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FLASH GENE
Symbol COL9A3 contributors: - updated : 30-04-2007
HGNC name collagen, type IX, alpha 3
HGNC id 2219
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