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FLASH GENE
Symbol COL9A2 contributors: - updated : 30-04-2007
HGNC name collagen, type IX, alpha 2
HGNC id 2218
Corresponding disease
EDM2 epiphyseal dysplasia multiple 2
Location 1p33-p32.3      Physical location : 40.766.162 - 40.782.939
Synonym name
  • collagen IX, alpha-2 polypeptide
  • collagen alpha-2
    • Synonym symbol(s) DJ39G22.4, EDM2, MED
    DNA
    TYPE functioning gene
    STRUCTURE 16.00 kb     32 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    BMP8A 1p34.2 bone morphogenetic protein 8a OXCT2P 1p34.2 3-oxoacid CoA transferase 2 pseudogene FLJ14351 1p34.2 hypothetical protein FLJ14351 PABPC4 1p36-p32 poly(A) binding protein, cytoplasmic 4 (inducible form) HEYL 1p34.3 hairy/enhancer-of-split related with YRPW motif-like NT5C1A 1p34.3-p33 5'-nucleotidase, cytosolic IA HPCAL4 1p34.2 hippocalcin like 4 PPIE 1p32 peptidylprolyl isomerase E (cyclophilin E) BMP8B 1p35-p32 bone morphogenetic protein 8 b(osteogenic protein 2) OXCT2 1p34 3-oxoacid CoA transferase 2 IPT 1p35.3-p34.1 3-oxoacid CoA transferase 2 MYCL1 1p34.2 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) FLJ14490 1p34.2 hypothetical protein FLJ14490 CAP1 1p34.2 CAP, adenylate cyclase-associated protein 1 (yeast) PPT1 1p32 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) RLF 1p32 rearranged L-myc fusion sequence LOC127391 1p34.2 similar to dJ39G22.2 (novel protein) ZMPSTE24 1p34.1-p33 zinc metalloproteinase (STE24 homolog, yeast) COL9A2 1p33-p32.3 collagen, type IX, alpha 2 LOC388621 1 similar to 60S ribosomal protein L21 LOC391028 1 similar to Csa-19 LOC64744 1p35.3-p34.1 hypothetical protein AL133206 LOC65243 1p34.2 hypothetical protein LOC65243 FLJ16030 1p34.2 FLJ16030 protein FLJ21144 1p34.2 hypothetical protein FLJ21144 MGC27466 1p34.2 hypothetical protein MGC27466 LOC391029 1 similar to General transcription factor IIF, polypeptide 2 RIMS3 1pter-p22.2 regulating synaptic membrane exocytosis 3 NFYC 1p32 nuclear transcription factor Y, gamma KCNQ4 1p34 potassium voltage-gated channel, KQT-like subfamily, member 4 CITED4 1p34.1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 LOC388622 1 LOC388622 CTPS 1p34.1 CTP synthase FLJ23878 1p34.1 hypothetical protein FLJ23878
    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
    Hearing/Equilibriumearinnercochlea  
    Lymphoid/Immunelymph node    
    Reproductivemale systemprostate   
    Urinarybladder    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilagehyaline  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cartilage, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibril associated collagen with interrupted triple helices (FACIT) family
  • thrombospondin N terminal-like domain
    • conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Col9a2 (86 pc)
    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
  • structural component of hyaline cartilage and vitreous of the eye
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text skeletal development, histogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • heterotrimerizing with COL9A1 and COL9A3
  • covalently associated with glycosaminoglycan side chain
    • INTERACTION
    DNA
    RNA
    small molecule
    protein COLI, COLII fibrils
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDM2
    Susceptibility to intervertebral disc disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS