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FLASH GENE
Symbol ENAM contributors: mct/shn - updated : 30-03-2011
HGNC name enamelin
HGNC id 3344
Corresponding disease
AI1C amelogenesis imperfecta type 1C
AIH2 amelogenesis imperfecta 2, hypoplastic local
Location 4q13.3      Physical location : 71.494.460 - 71.512.536
Synonym name
  • amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
  • Synonym symbol(s) ADAI, AI1C, AIH2
    DNA
    TYPE functioning gene
    STRUCTURE 18.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D4S392 - D4S2969 - ENAM - D4S1543 - D4S2931 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 5674 - 1142 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate  moderately
    Urinarykidney   moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveameloblast
    Digestiveodontoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 39 AA signal peptide
  • two conserved LEF1 responsive elements
  • HOMOLOGY
    interspecies ortholog to Enam, Mus musculus
    ortholog to ENAM, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix protein of developing teeth
    basic FUNCTION
  • involved in the extension of enamel during the secretory stage of dental enamel formation (early stage of enamel development)
  • involved in the mineralization and structural organization of enamel
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text tooth development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • beta-catenin/LEF1 complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIH2 , AI1C
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ENU-induced dominant mouse AIH2 mutations, M100395, M100514 and M100521 caused AI-like phenotypes in the incisors and molars of the affected individual