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FLASH GENE
Symbol ADAMTS18 contributors: mct/npt/pgu - updated : 06-03-2017
HGNC name ADAM metallopeptidase with thrombospondin type 1 motif, 18
HGNC id 17110
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one metalloproteinase domain
  • one disintegrin-like domain
  • one thrombospondin type 1 (TS) motif
  • C-terminal 385-AA fragment induces oxidative platelet fragmentation
    • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to C.elegans R166.5
    intraspecies homolog to ADAMTS16
    Homologene
    FAMILY
  • ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family
    • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • functional tumor suppressor, being frequently inactivated epigenetically in multiple carcinomas
  • plays likely an essential role in early eye development
  • play important roles in development, angiogenesis and coagulation; dysregulation and mutation of these enzymes have been implicated in many disease processes, such as inflammation, cancer, arthritis and atherosclerosis
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMCAT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    frequently silenced by hypermethylation in esophageal, nasopharyngeal and multiple other carcinomas
    tumoral somatic mutation      
    promote growth, migration, and metastasis in melanoma
    tumoral     --low  
    by hypermethylation, in clear cell renal cell carcinoma
    Susceptibility to variation of hip BMD
    Variant & Polymorphism SNP the C allele of rs11864477 significantly associated to lower hip BMD
    Candidate gene
    Marker
  • ADAMTS18 gene hypermethylation may be involved in the tumorigenesis of clear cell renal cell carcinoma and may serve as a novel biomarker for this disease
    • Therapy target
    ANIMAL & CELL MODELS
  • Adamts18-deficient mice are born in a normal Mendelian ratio, and are viable but show a transient growth delay