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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)
    Physical map
    NRP2 2q34 neuropilin 2 LOC391473 2 similar to cyclophilin A FLJ20309 2q33.3 hypothetical protein FLJ20309 NDUFS1 2q33-q34 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) EEF1B2 2q33 eukaryotic translation elongation factor 1 beta 2 GPR1 2q33.3 G protein-coupled receptor 1 KIAA1571 2q34 KIAA1571 protein LOC391474 2 hypothetical gene supported by AK123581 ADAM23 2q33 a disintegrin and metalloproteinase domain 23 LOC200726 2q34 hypothetical LOC200726 LOC391475 2 similar to Down syndrome critical region protein 3 (Down syndrome critical region protein A) LOC130752 KIAA0971 2p23.3-q34 Homo sapiens KIAA0971 protein (KIAA0971), mRNA. CPO 3q12 coproporphyrinogen oxidase (coproporphyria, harderoporphyria) KLF7 2q32 Kruppel-like factor 7 (ubiquitous) LOC389071 2 LOC389071 CREB1 2q32-q34 cAMP responsive element binding protein 1 LOC151194 2q34 similar to hepatocellular carcinoma-associated antigen HCA557b LOC391476 2 similar to PPP1R14B protein FLJ40432 2q34 hypothetical protein FLJ40432 FZD5 2q33-q34 frizzled homolog 5 (Drosophila) LOC389072 2 similar to RIKEN cDNA 9430067K14 gene; Ras GTPase-activating protein 1 (GTPase-activating protein) (GAP) (Ras p21 protein activator) (p120GAP) (RasGAP) LOC391477 2 similar to ribosomal protein L9; 60S ribosomal protein L9 LOC344471 2q34 similar to dJ999L4.1 (novel protein similar to ribosomal protein L12 (RPL12)) CRYGEP1 2q33-q35 crystallin, gamma E pseudogene 1 CRYGD 2q33-q35 crystallin, gamma D CRYGC 2q33-q35 crystallin, gamma C
    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