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FLASH GENE
Symbol ADAM23 contributors: npt/mct - updated : 27-10-2010
HGNC name ADAM metallopeptidase domain 23
HGNC id 202
Location 2q33.3      Physical location : 207.308.367 - 207.482.677
Synonym name
  • ADAM 23
  • a disintegrin and metalloproteinase domain 23
  • metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3
  • Synonym symbol(s) MDC3, MDC-3
    DNA
    TYPE functioning gene
    STRUCTURE 174.32 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • a SP1 binding site (-202/-190) that binds SP1 at the proximal promoter
  • MAPPING cloned Y linked N status provisional
    Map D2S307 - ADAM23 - D2S369 - D2S355
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    text two isoforms beta and gamma
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3059 92 832 - 2004 14697522
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumearinner  predominantly
    Nervousbrain   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  predominantly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain, in the developing cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • domains similar to hemorrhagic snake venom proteins (HSVP)
  • a disrupted Zn-binding site metalloproteinase
  • a zinc metalloprotease domain
  • a disintegrin domain that may serve as an integrin ligand, able to interact directly with PRNP
  • a cysteine-rich domain
  • an EGF-like repeat
  • a transmembrane domain and a cytoplasmic tail
  • conjugated GlycoP , MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • ADAM (a disintegrin and metalloprotease domain) family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • a disintegrin and metalloprotease, cell surface adhesion protein
  • may play roles in the development and maintenance of neural function
  • may serves to mediate cell-cell interactions within the CNS
  • functional role during metastatic progression by negatively modulating alpha(5)beta(3) integrin activation
  • CELLULAR PROCESS protein, degradation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • binding to integrin alphavbeta 3
  • with ADAM22 and ADAM11, binds LGI1 and LGI4 (LGI-ADAM system seems to be regulated not only by the affinity but also by the cell-type-specific expression of each protein) (Sagane 2008)
  • LGI1 binding to ADAM23 is necessary to correctly pattern neuronal morphology and altered anatomical patterning contributes to partial epilepsy with auditory features
  • physical interaction between ADAM23 and both recombinant and endogenous PRNP
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    silenced in gastric cancer by homozygous deletion or aberrant promoter hypermethylation
    tumoral     --low  
    by aberrant promoter hypermethylation during the progression of colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS