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FLASH GENE

Symbol

COL1A2

contributors: mct - updated : 17-01-2018

HGNC name	collagen, type I, alpha 2
HGNC id	2198

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EDS7A2 , MFSV , OI1B , OI2B , OI3B , OI4B , OPM , EDS11

related resource

Collagen Type I & III

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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