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FLASH GENE
Symbol ADAMTS2 contributors: mct/npt - updated : 27-10-2006
HGNC name ADAM metallopeptidase with thrombospondin type 1 motif, 2
HGNC id 218
Corresponding disease
EDS7C Ehlers-Danlos syndrome, type VIIC
Location 5q23      Physical location : 178.537.851 - 178.772.431
Synonym name
  • procollagen amino-propeptide processing enzyme
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
  • Synonym symbol(s) PCNIP, ADAM-TS2, ADAMTS-3, NPI, PCINP, PCPNI, NPI
    EC.number 3.4.24.14
    DNA
    TYPE functioning gene
    STRUCTURE 231.50 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389350 5 similar to KIAA0752 protein LOC285658 5q35.3 similar to 60S ribosomal protein L19 N4BP3 5q35.3 similar to 60S ribosomal protein L19 FLJ22318 5q35.3 hypothetical protein FLJ22318 NOLA2 5q35 nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs) GMCL 5q35.3 germ cell-less homolog (Drosophila) HNRPAB 5q35.3 heterogeneous nuclear ribonucleoprotein A/B MGC15875 5q35.3 hypothetical protein MGC15875 COL23A1 5q35.3 collagen, type XXIII, alpha 1 MRPL50P3 5p12 collagen, type XXIII, alpha 1 CLK4 5q35 CDC-like kinase 4 ZNF354A 5q35.3 zinc finger protein 354A LOC391856 5 similar to acetoacetyl-CoA synthetase; acetoacetate-CoA ligase; homolog of C. elegans supressor of ras 5 (sur-5) LOC391857 5 similar to hypothetical protein MGC2574 ZNF354B 5q35-3 zinc finger protein 354B LOC340042 5q35.3 similar to hypothetical protein MGC48972 PIGFP1 5q35 phosphatidylinositol glycan, class F, pseudogene 1 FLJ21628 5q35.3 hypothetical protein FLJ21628 ZNF454 5q35.3 zinc finger protein 454 GRM6 5q35 glutamate receptor, metabotropic 6 LOC391858 5 similar to F-box and WD-40 domain protein 2 LOC345462 5q35.3 similar to hypothetical protein 9630041N07 ZNF354C 5q35.3 zinc finger protein 354C LOC345463 5q35.3 similar to UNR protein ADAMTS2 5q23 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 LOC391859 5 similar to Tb-291 membrane associated protein LOC389351 5 similar to 6-pyruvoyl-tetrahydropterin synthase RUFY1 5q35.3 RUN and FYVE domain containing 1 HNRPH1 5q353 heterogeneous nuclear ribonucleoprotein H1 (H) LOC202404 5q35.3 hypothetical LOC202404 LOC285679 5q35.3 hypothetical protein LOC285679 LOC389352 5 similar to High mobility group protein 4 (HMG-4) (High mobility group protein 2a) (HMG-2a) CANX 5q35 calnexin MAML1 5q35 mastermind-like 1 (Drosophila) FLJ12121 5q35.3 hypothetical protein FLJ12121 LTC4S 5q35 leukotriene C4 synthase MGAT4B 5q35 mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B SQSTM1 5q35 sequestosome 1 LOC51149 5q35.3 truncated calcium binding protein KIAA0676 5q35.1-q35.3 truncated calcium binding protein RNF130 5q35.3 ring finger protein 130 LOC255426
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3661 134 1211 - Reardon
    - - 1701 - 566 - Reardon
  • lacking the C terminal TSP motifs and peptidase activity
  • 11 exons
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vesselsaorta  highly
    Lymphoid/Immunethymus   lowly
    Nervousbrain   lowly
    Reproductivefemale systemuterus  highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Connectivebone   
    Connectivedensetendon  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal sequence
  • a propeptide domain
  • a reprolysin-type catalytic domain
  • a disintegrin-like domain
  • four thrombospondin type 1 (TSP1) module
  • a cysteine rich domain
  • a spacer domain without cysteine residues
  • terminal TSP-like modules
  • conjugated MetalloP
    HOMOLOGY
    interspecies ortholog to murine Adamts2
    Homologene
    FAMILY
  • ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • a disintegrin-like and metalloprotease, cell surface adhesion protein, procollagen I/II aminopeptide processing enzyme
  • extracellular metalloproteinase responsible for cleaving the N-propeptides of procollagens I-III
  • cleaving the propeptides of type I and II collagen prior to fibril assembly and may be playing a role in development that is independent of its role in collagen biosynthesis
  • CELLULAR PROCESS protein, post translation
    protein, degradation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
    cell & other
    REGULATION
    inhibited by TIMP3 (inhibit procollagen processing by cells)
    ASSOCIATED DISORDERS
    corresponding disease(s) EDS7C
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS