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FLASH GENE
Symbol COL1A2 contributors: mct - updated : 17-01-2018
HGNC name collagen, type I, alpha 2
HGNC id 2198
DNA
TYPE functioning gene
STRUCTURE 36.67 kb     52 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif repetitive sequence
text structure
  • two dinucleotides, one in the 5' flanking region, and one in the first intron (unique open chromatin site acting as a repressor) regulating transcription of the gene
  • two E box sequences within the proximal COL1A2 promoter are required for SCX-mediated transactivation
    • MAPPING cloned Y linked Y status confirmed
    Map cen - D7S110 - D7S96 - D7S102 - D7S88 - D7S15 ,D7S94 - COL1A2 ,D7S64 ,CYP3A4 ,PON1 - D7S456 - GUSB - GNB2 - EPO - ACHE - qter
    Authors Donis-Keller (89), Scherrer (93)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 5411 - 1366 - Joo (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    Connectivedenseligament  
    Connectivedensetendon  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text bone, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fibrillar collagen group 1 with the rope-like structure
  • a long stretch of uninterrupted GlY-XY triplets N and C termini globular domain
    • mono polymer heteromer , trimer
    isoforms Precursor preprocollagen
    HOMOLOGY
    interspecies ortholog to murine Col1a2
    Homologene
    FAMILY
  • fibrillar collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • main source of mechanical strength, template for mineral deposition in bones
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotrimerizing with COL1A1 (one alpha 2, two alpha 1 chains)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • the early-immediate gene EGR-1 is induced by transforming growth factor-beta and mediates stimulation of collagen gene expression
  • JUNB mediates enhancer/promoter activity of COL1A2 after TGF-beta induction (Ponticos 2009)
  • NAMPT antagonized COL1A2 promoter repression by RFX5
  • transcription factor SCX induces COL1A2 expression in both cardiac fibroblasts and myofibroblasts
    • cell & other
    REGULATION
    activated by TGF-beta via a Smad-independent signalling pathway (Ponticos 2009)
    Other IFNG and TGFBeta have antagonist roles on the regulation of RFXANK repressing or up-regulating COL1A2 (Fang 2009)
    inactivated by CpG hypermethylation , contributing to proliferation and migration activity of bladder cancer (Mori 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS7A2 , MFSV , OI1B , OI2B , OI3B , OI4B , OPM , EDS11
    related resource Collagen Type I & III
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    COL1A2 may be included in heterozygous large deletions up to 8.7 Mb encompassing SGCE and other neighbouring genes
    Susceptibility
  • to systemic sclerosis
  • to intracranial aneurysms in Koreans
  • to lower BMD and a higher risk of stroke
    • Variant & Polymorphism SNP , repeat
  • rs2621215 SNP in intron 46 of the COL1A2 gene found to be marginally associated with an increased risk of intracranial aneurysms in Koreans (Joo 2009)
  • rs42524 have lower BMD and a higher risk of stroke in comparison to their homozygous counterparts (Lindahl 2009)
  • mutation in exon 49 associated with intracranial hemorrhage and brachydactyly in osteogenesis imperfecta type III (Faqeih 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS