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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EDS11 Ehlers-Danlos syndrome, type XI EDS7A2 Ehlers-Danlos syndrome, type VIIA2 MFSV Marfan syndrome variant OI1B osteogenesis imperfecta, types I and IA OI2B osteogenesis imperfecta, type II OI3B osteogenesis imperfecta, type III OI4B osteogenesis imperfecta, type IV OPM osteoporosis, postmenopausal
Location	7q21.3      Physical location : 94.023.872 - 94.060.544
Synonym name	collagen alpha-2
	collagen I, alpha-2 polypeptide
	collagen of skin, tendon and bone, alpha-2 chain
	alpha 2(I)-collagen

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000089 52 - 5411 NP_000080 - 1366 - Joo (2009)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Connective cartilage       Connective dense ligament     Connective dense tendon

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)

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