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FLASH GENE
Symbol COL5A2 contributors: mct - updated : 22-05-2018
HGNC name collagen, type V, alpha 2
HGNC id 2210
Corresponding disease
EDS1B Ehlers-Danlos syndrome, gravis classical type 1b
EDS2 Ehlers-Danlos syndrome, type II
Location 2q32.2      Physical location : 189.896.641 - 190.044.605
Synonym name collagen alpha-2
Synonym symbol(s) MGC105115
DNA
TYPE functioning gene
STRUCTURE 148.00 kb     54 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map see COL3A1
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   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   
Connectiveinterstitialdermis  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • von Willebrand factor type C domain
  • fibrillar collagen with triple helix repeat
  • C-terminal globular domain
    • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col5a2
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • incorporated into,and contributing to regulate the shape and diameter of type I collagen fibrils
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating as a low abundance collagen, with collagen type I fibrils
  • BMP1 cleaving the C-propeptides of the major fibrillar procollagens
    • cell & other
    REGULATION
    Other regulated by BMP1 (procollagen C-peptidase)
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS1B , EDS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS