Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol COL1A2 contributors: mct - updated : 17-01-2018
HGNC name collagen, type I, alpha 2
HGNC id 2198
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