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    ENAM enamelin [ Homo sapiens (human) ]

    Gene ID: 10117, updated on 26-Feb-2013
    Official Symbol
    ENAMprovided by HGNC
    Official Full Name
    enamelinprovided by HGNC
    Primary source
    HGNC:3344
    See related
    Ensembl:ENSG00000132464; HPRD:05960; MIM:606585; Vega:OTTHUMG00000129914
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADAI; AI1C; AIH2
    Summary
    Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
    Location :
    4q13.3
    Sequence :
    Chromosome: 4; NC_000004.11 (71494461..71512536)
    See ENAM in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene amelotin Neighboring gene ameloblastin (enamel matrix protein) Neighboring gene immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides Neighboring gene UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Molecular characterization of amelogenesis imperfecta in Chinese patients. Song YL, et al. Cells Tissues Organs, 2012. PMID 22414746.
    2. A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families. Urzúa B, et al. Acta Odontol Scand, 2012 Jan. PMID 21504268.
    3. The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation. Shore RC, et al. Cells Tissues Organs, 2010. PMID 19923784.
    4. Candidate gene strategy reveals ENAM mutations. Kang HY, et al. J Dent Res, 2009 Mar. PMID 19329462.
    5. Enamel formation genes are associated with high caries experience in Turkish children. Patir A, et al. Caries Res, 2008. PMID 18781068.

    See all (22) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta.
      Title: Molecular characterization of amelogenesis imperfecta in Chinese patients.
    2. hypocalcified amelogenesis imperfecta, Witkop type III, was unrelated to previously described mutations in the ENAM or MMP-20 genes
      Title: A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.
    3. The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation
      Title: The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.
    4. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta
      Title: A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
    5. Analysis revealed 2 ENAM mutations (autosomal-dominant g.14917delT and autosomal-recessive g.13185-13186insAG mutations). Single T deletion in exon 10 is a novel deletion mutation(g.14917delT, c.2991delT)predicted to result in premature termination codon.
      Title: Candidate gene strategy reveals ENAM mutations.
    6. a single base difference g359A --> G located in exon 1 was identified and ruled out the possible mutation in exon 2, exon 3, exon 4, exon 5, exon 6, exon 7, exon 8, exon 9, exon 10, g2382, g6395 and g8344 of ENAM gene in the AI patient.
      Title: Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI).
    7. A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified.
      Title: Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
    8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Enamel formation genes are associated with high caries experience in Turkish children.
    9. This work shows that bursts of adaptive enamelin evolution occur on primate lineages with inferred dietary changes.
      Title: Dietary change and adaptive evolution of enamelin in humans and among primates.
    10. A mutation was found in exon 9 where guanine was substituted by thymine in one of the alleles in position 817, generating a change of arginine to methionine in codon 179 of the protein.
      Title: Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.
    Submit: New GeneRIF Correction See all (14)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural constituent of tooth enamel NAS
    Non-traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    amelogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    bone mineralization NAS
    Non-traceable Author Statement
    more info
    		  
    odontogenesis NAS
    Non-traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    proteinaceous extracellular matrix NAS
    Non-traceable Author Statement
    more info
    		  
    Preferred Names
    enamelin
    Names
    enamelin
    amelogenesis imperfecta 2, hypocalcification (autosomal dominant)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013024.1 RefSeqGene

      Range
      5001..23076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_031889.2 → NP_114095.2  enamelin precursor

      Status: REVIEWED

      Source sequence(s)
      AF125373, BC117308
      Consensus CDS
      CCDS3544.2
      UniProtKB/Swiss-Prot
      Q9NRM1
      Related
      ENSP00000379383, OTTHUMP00000216417, ENST00000396073, OTTHUMT00000252166

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p10 Primary Assembly

      Range
      71494461..71512536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      67298512..67316504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018915.1 Alternate CHM1_1.0

      Range
      71369407..71387481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01022932.1 (12455..22231) None
    genomic ABBA01022933.1 None
    genomic AC009570.13 (161052..179127) None
    genomic AC134919.3 (138188..145992) None
    genomic AF530444.1 AAM97323.1
    genomic AMYH01014280.1 (6977..25051) None
    genomic AY167999.1 AAN87336.1
    genomic CH471057.1 EAX05625.1
    genomic EU482096.1 ACA43029.1
    mRNA AF125373.1 AAG43242.1
    mRNA AF210247.1 AAF73847.1
    mRNA BC117308.1 AAI17309.1
    mRNA BC117310.1 AAI17311.1
    mRNA BC171756.1 None
    other-genetic BC111841.2 AAI11842.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRM1.3 GenPept UniProtKB/Swiss-Prot:Q9NRM1

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

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      • Order cDNA clone
        Order cDNA clone
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        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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