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ENAM Gene

protein-coding   GIFtS: 49
GCID: GC04P071494

Enamelin

(Previous names: amelogenesis imperfecta 2, hypocalcification (autosomal...)
(Previous symbol: AIH2)
  See ENAM-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
enamelin1 2
AIH21 2 5
Amelogenesis Imperfecta 2, Hypocalcification (Autosomal Dominant)1 2
AI1C2 5
ADAI2

External Ids:    HGNC: 33441   Entrez Gene: 101172   Ensembl: ENSG000001324647   OMIM: 6065855   UniProtKB: Q9NRM13   
ORGUL members:         

Export aliases for ENAM gene to outside databases

Previous GC identifers: GC04P071451 GC04P071734 GC04P071895 GC04P071960 GC04P071859 GC04P067298


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ENAM Gene:
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)

GeneCards Summary for ENAM Gene:
ENAM (enamelin) is a protein-coding gene. Diseases associated with ENAM include amelogenesis imperfecta, type ic, and amelogenesis imperfecta, type ib. GO annotations related to this gene include structural constituent of tooth enamel.

UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of
enamel during the secretory stage of dental enamel formation

Gene Wiki entry for ENAM Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ENAM gene promoter:
         IRF-2   USF1   USF-1   Hand1   Pax-2a   CUTL1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENAM promoter sequence
   Search Chromatin IP Primers for ENAM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

ENAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENAM gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071494:  view genomic region     (about GC identifiers)

Start:
71,494,461 bp from pter      End:
71,552,533 bp from pter
Size:
58,073 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1 (See protein sequence)
Recommended Name: Enamelin precursor  
Size: 1142 amino acids; 128785 Da
Secondary accessions: Q17RI5 Q9H3D1

Explore the universe of human proteins at neXtProt for ENAM: NX_Q9NRM1

Explore proteomics data for ENAM at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn114, Asn126, Asn245, Asn252, Asn265, Asn296, Asn467, Asn534, Asn934, Asn1040
  • Modification sites at PhosphoSitePlus

  • See ENAM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_114095.2  
    ENSEMBL proteins: 
     ENSP00000379383  

    ENAM Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ENAM
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    Novus Biologicals ENAM Protein
    Novus Biologicals ENAM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ENAM

     
    Search eBioscience for Proteins for ENAM 

    ENAM Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ENAM
    Cloud-Clone Corp. Antibodies for ENAM
    ThermoFisher Antibody for ENAM
    LSBio Antibodies in human, mouse, rat for ENAM

    ENAM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ENAM
    Cloud-Clone Corp. CLIAs for ENAM
    Search eBioscience for ELISAs for ENAM 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR015673 Enamelin

    Graphical View of Domain Structure for InterPro Entry Q9NRM1

    ProtoNet protein and cluster: Q9NRM1


    Find genes that share domains with ENAM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ENAM_HUMAN, Q9NRM1
    Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of
    enamel during the secretory stage of dental enamel formation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030345structural constituent of tooth enamel ----
         
    Find genes that share ontologies with ENAM           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Enam):
     craniofacial  homeostasis/metabolism 

    Find genes that share phenotypes with ENAM           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENAM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ENAM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENAM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ENAM

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ENAM:
    hsa-miR-32* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidENAM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ENAM
    Predesigned siRNA for gene silencing in human, mouse, rat ENAM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ENAM

    Clone
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    OriGene clones in human, mouse for ENAM (see all 7)
    OriGene ORF clones in mouse, rat for ENAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ENAM (NM_031889)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ENAM 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ENAM_HUMAN, Q9NRM1: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    lysosome1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    Find genes that share ontologies with ENAM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENAM
    Interactions:

        Search GeneGlobe Interaction Network for ENAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ENAM (ENSP000003793834) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AHSGENSP000003938874STRING: ENSP00000393887
    ANXA2ENSP000003460324STRING: ENSP00000346032
    BST2ENSP000002525934STRING: ENSP00000252593
    C11orf68ENSP000003983504STRING: ENSP00000398350
    CA3ENSP000002853814STRING: ENSP00000285381
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030282bone mineralization ----
    GO:0031214biomineral tissue development IEA--
    GO:0042475odontogenesis of dentin-containing tooth ----
    GO:0042476odontogenesis ----
    GO:0097186amelogenesis IEA--

    Find genes that share ontologies with ENAM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ENAM

    2 Novoseek inferred chemical compound relationships for ENAM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyapatite 53.5 2 17957327 (1), 14656895 (1)
    calcium 0 4 18508280 (3), 1362507 (1)



    Find genes that share compounds with ENAM           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ENAM gene: 
    NM_031889.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396073(uc011caw.1) ENST00000472597 ENST00000472903 ENST00000509221

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ENAM using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ENAM:
    hsa-miR-32* hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidENAM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ENAM
    Predesigned siRNA for gene silencing in human, mouse, rat ENAM
    Clone
    Products:
         
    OriGene clones in human, mouse for ENAM (see all 7)
    OriGene ORF clones in mouse, rat for ENAM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ENAM (NM_031889)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENAM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ENAM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENAM
      QuantiTect SYBR Green Assays in human, mouse, rat ENAM
      QuantiFast Probe-based Assays in human, mouse, rat ENAM

    12 AceView cDNA sequences:

    BM726916 BX098849 NM_031889 AF125373 BU741192 AI675060 AF210247 AI627857 
    AW466983 AI078135 BG196445 AW770535 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ENAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAACACCGT
    ENAM Expression
    About this image


    ENAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Early Ameloblasts Dental Enamel
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
    ENAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENAM Protein Expression

    UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
    Tissue specificity: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast

        Custom PCR Arrays for ENAM
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ENAM gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Enam1 , 5 enamelin1, 5 76.68(n)1
    63.39(a)1
      5 (43.66 cM)5
    138011  NM_017468.31  NP_059496.11 
     884879825 
    lizard
    (Anolis carolinensis)
    Reptilia ENAM6
    enamelin
    29(a)
    1 ↔ 1
    2(74750364-74778486)


    ENSEMBL Gene Tree for ENAM (if available)
    TreeFam Gene Tree for ENAM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ENAM (see all 484)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008821851,2
    C--67316846(+) GTTTTC/TTTTTT 1 -- ds50010--------
    rs777657711,2
    C,F--71367491(+) CCCAGG/ATTAAC 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1892781741,2
    --71367492(+) CCAGGC/TTAACA 1 -- us2k10--------
    rs1464651571,2
    --71367498(+) TAACAC/TATCTT 1 -- us2k10--------
    rs728596441,2
    C,F--71367555(+) ACATTA/TAAAAA 1 -- us2k12Minor allele frequency- T:0.08WA 120
    rs1926597761,2
    C--71367604(+) GTTGTA/GATTGC 1 -- us2k10--------
    rs283769491,2
    C,F,H--71367609(+) AATTGC/TCTGAA 1 -- us2k121Minor allele frequency- T:0.31NS EA NA WA CSA 2347
    rs1158814571,2
    C,F--71367735(+) CTACAT/CTAGAG 1 -- us2k11Minor allele frequency- C:0.14WA 118
    rs1413385521,2
    --71367812(+) CACCCC/TAGCCT 1 -- us2k10--------
    rs1849459921,2
    --71367832(+) AGCCAC/GACTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENAM (71494461 - 71552533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ENAM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829965CNV Gain17160897

    Human Gene Mutation Database (HGMD): ENAM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ENAM
    DNA2.0 Custom Variant and Variant Library Synthesis for ENAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606585   
    OMIM disorders: 104500  204650  
    UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
  • Amelogenesis imperfecta 1B (AI1B) [MIM:104500]: An autosomal dominant defect of enamel formation.
    Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in
    small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits,
    grooves or a hypoplastic area in the enamel (local hypoplastic AI). Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Amelogenesis imperfecta 1C (AI1C) [MIM:204650]: An autosomal recessive defect of dental enamel formation.
    Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be
    associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for ENAM:    
    About MalaCards
    amelogenesis imperfecta, type ic    amelogenesis imperfecta, type ib    amelogenesis imperfecta    dentin dysplasia
    dentinogenesis imperfecta    craniopharyngioma

    4 diseases from the University of Copenhagen DISEASES database for ENAM:
    Amelogenesis imperfecta     Autoimmune hepatitis     Dentinogenesis imperfecta     Dentin dysplasia

    Find genes that share disorders with ENAM           About GenesLikeMe

    8 Novoseek inferred disease relationships for ENAM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 97.7 28 11037750 (4), 19923784 (2), 15723871 (2), 20012271 (2) (see all 13)
    odontogenic cyst calcifying 76.2 2 10872887 (1), 1374797 (1)
    odontogenic tumors 67.5 5 1374797 (2), 1933984 (1), 19648121 (1)
    open bite 50.6 1 15892947 (1)
    hypoplasia 47 1 18714142 (1)
    craniofacial anomaly 42.2 1 7554921 (1)
    malocclusion 26.1 1 15892947 (1)
    tumors 2.18 2 1374797 (2)

    Genetic Association Database (GAD): ENAM
    Human Genome Epidemiology (HuGE) Navigator: ENAM (1 document)

    Export disorders for ENAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ENAM gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with ENAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). (PubMed id 11978766)1, 2, 3, 9 Mardh C.K....Forsman-Semb K. (Hum. Mol. Genet. 2002)
    2. Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (PubMed id 11037750)1, 2, 9 Dong J.... MacDougall M. (Eur. J. Oral Sci. 2000)
    3. Dietary change and adaptive evolution of enamelin in humans and among primates. (PubMed id 18245370)1, 2, 9 Kelley J.L. and Swanson W.J. (Genetics 2008)
    4. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (PubMed id 14684688)1, 2, 9 Hart T.C.... Firatli E. (J. Med. Genet. 2003)
    5. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (PubMed id 11487571)1, 2, 9 Rajpar M.H.... Dixon M.J. (Hum. Mol. Genet. 2001)
    6. Enamel formation genes are associated with high caries experience in Turkish children. (PubMed id 18781068)1, 4, 9 Patir A....Vieira A.R. (Caries Res. 2008)
    7. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. (PubMed id 17125728)1, 9 Pavlic A....Battelino T. (Arch. Oral Biol. 2007)
    8. Enamelin and autosomal-dominant amelogenesis imperfecta. (PubMed id 14656895)1, 9 Hu J.C. and Yamakoshi Y. (Crit. Rev. Oral Biol. Med. 2003)
    9. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. (PubMed id 12828988)1, 9 Hart P.S.... Wright J.T. (Arch. Oral Biol. 2003)
    10. Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. (PubMed id 10831092)1, 9 Hu C.C....Simmer J.P. (J. Dent. Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Disorders
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10117 HGNC: 3344 AceView: ENAM Ensembl:ENSG00000132464 euGenes: HUgn10117
    ECgene: ENAM H-InvDB: ENAM

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ENAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ENAM gene:
    Search GeneIP for patents involving ENAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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