Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ENAM contributors: mct/shn - updated : 07-01-2021
HGNC name enamelin
HGNC id 3344
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
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in late stage of clear cell renal cell carcinoma (ccRCC)
    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