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FLASH GENE
Symbol COL1A2 contributors: mct - updated : 17-01-2018
HGNC name collagen, type I, alpha 2
HGNC id 2198
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