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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
Physical map
LOC151273 2q32.1 similar to E74-like factor 2 (ets domain transcription factor); new Ets-related factor FLJ34780 2q32.1 hypothetical protein FLJ34780 LEREPO4 2q32.2 likely ortholog of mouse immediate early response, erythropoietin 4 ITGAV 2q31-q32.1 integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) KIAA1946 2q32.2 KIAA1946 protein ZSWIM2 2q32.2 zinc finger, SWIM domain containing 2 LOC391467 2 similar to Inosine-5-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPDH-I) (IMPD 1) CALCRL 2q31.3 calcitonin receptor-like TFPI 2q31-q32.1 tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) LOC344328 2q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein CED-6 2q32.3-q33 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein DIRC1 2q33 disrupted in renal carcinoma 1 COL3A1 2q32.2 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) COL5A2 2q24.3-q31 collagen, type V, alpha 2 LOC339781 2q32.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FLJ12519 2q32.3 hypothetical protein FLJ12519 SLC40A1 2q32 solute carrier family 40 (iron-regulated transporter), member 1 NS3TP1 2p24.3-q21.3 HCV NS3-transactivated protein 1 FLJ25415 2q32.3 hypothetical protein FLJ25415 OSGEPL1 2q32 O-sialoglycoprotein endopeptidase-like 1 LOC51240 2q32.3 hypothetical protein LOC51240 PMS1 2q31.1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) LOC285011 2q32.3 similar to HNRPC protein GDF8 2q32.2 growth differentiation factor 8 MGC13057 2q32.3 hypothetical protein MGC13057 HIBCH 2q32.3 3-hydroxyisobutyryl-Coenzyme A hydrolase INPP1 2q32 inositol polyphosphate-1-phosphatase FLJ20160 2q32.3 FLJ20160 protein LOC391468 2 similar to Hypothetical protein KIAA0286 (HA6800) NAB1 2q32.3-q33 NGFI-A binding protein 1 (EGR1 binding protein 1) GLS 2q32-q34 glutaminase STAT1 2q32.2-q32.3 signal transducer and activator of transcription 1, 91kDa STAT4 2q32.2-q32.3 signal transducer and activator of transcription 4 MYO1B 2q12-q34 myosin IB FLJ22833 2q32.3 hypothetical protein FLJ22833 SDPR 2q32-q33 serum deprivation response (phosphatidylserine binding protein) HSP40 2q32.3 HSP40 pseudogene TMEFF2 2q32.3-q33 transmembrane protein with EGF-like and two follistatin-like domains 2
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