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FLASH GENE
Symbol COL1A2 contributors: mct - updated : 17-01-2018
HGNC name collagen, type I, alpha 2
HGNC id 2198
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)
    Physical map
    CCM1 7q21-q22 cerebral cavernous malformations 1 LOC392070 7 similar to RIKEN cDNA 4930500J03 LOC392071 7 similar to RIKEN cDNA 2810014D17 ODAG 7q21-q22 ocular development-associated gene PEX1 7q21-q22 peroxisome biogenesis factor 1 DKFZP564O0523 7q21.3 hypothetical protein DKFZp564O0523 MGC16142 7q21.3 hypothetical protein MGC16142 LOC392072 7 similar to hypothetical protein FLJ11767 MGC40405 7q21.3 hypothetical protein MGC40405 CDK6 7q21-q22 cyclin-dependent kinase 6 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 CALCR 7q21.3 calcitonin receptor LOC346588 7q21.3 similar to Protein C6orf66 (HSPC125) (My013 protein) TFPI2 7q22 tissue factor pathway inhibitor 2 GNGT1 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG11 7q21.3 guanine nucleotide binding protein (G protein), gamma 11 BET1 7q21.1-q22 BET1 homolog (S. cerevisiae) COL1A2 7q21.3 collagen, type I, alpha 2 CAS1 7q21.3 O-acetyltransferase SGCE 7q21.3 sarcoglycan, epsilon PEG10 7q21 paternally expressed 10 LOC392073 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392074 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene
    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