Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
DNA
TYPE functioning gene
STRUCTURE 152.98 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 5930 135 1221 - 2012 22386991
- - - - - - 2012 22386991
  • cleaved by thrombin at the thrombin cleavage site
    • - - 5934 - 1049 - 2012 22386991
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Visualeyeretina    Homo sapiens
     eyelens    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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