Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ADAMTSL2 contributors: mct/npt - updated : 17/10/2008
HGNC name ADAMTS-like 2
HGNC id 14631
Corresponding disease
GLSD1 geleophysic dysplasia 1
Location 9q34.2      Physical location : 136.397.285 - 136.440.640
Synonym symbol(s) KIAA0605, FLJ45164, ADAMTSL-2
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 40.67 kb     19 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 3740 104.5 951 - Hall (2003)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreasislet of Langerhans (obligat)  moderately
Nervousbrainlimbic systemhippocampus lowly
 nervespinal nervesciatic moderately
Reproductivefemale systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one disintegrin domain
  • three TSP type-1 domains
  • a signal peptide
  • a thrombospondin type-1 repeat domain (TSR)
  • a cysteine-rich module
  • an unusually long spacer module, containing a novel insertion bearing six N-glycosylation sites
  • six additional TSRs and a PLAC module
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • cell-surface and extracellular matrix binding glycoprotein tha may play a role during skeletal myogenesis
  • having a metalloendopeptidase activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • associate with ECM molecules through its TSR domains after secretion (Tsutsui 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GLSD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    down-regulated in endothelial cells derived from cirrhotic liver
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS