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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ENAM Gene

protein-coding   GIFtS: 47
GCID: GC04P071494

enamelin

(Previous names: amelogenesis imperfecta 2, hypocalcification (autosomal...)
(Previous symbol: AIH2)
 Explore 16 diseases affiliated with
ENAM via our new
 Human Malady Compendium 
Biological research products
for ENAM
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Enamelin1
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   

Export aliases for ENAM gene to outside databases

Previous GC identifers: GC04P071451 GC04P071734 GC04P071895 GC04P071960 GC04P071859 GC04P067298


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ENAM:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_022778.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ENAM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1 (See protein sequence)
Recommended Name: Enamelin precursor  
Size: 1142 amino acids; 128785 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q17RI5 Q9H3D1

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NRM1

  • ENAM Protein expression data from MOPED and PaxDb:    About this image 
    ENAM Protein Expression
    REFSEQ proteins: NP_114095.2  
    ENSEMBL proteins: 
     ENSP00000379383  

    Human Recombinant Protein Products for ENAM: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: ENAM
    OriGene Custom Protein Services for ENAM 
    GenScript Custom Purified and Recombinant Proteins Services for ENAM
    Novus Biologicals ENAM Protein
    Novus Biologicals ENAM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ENAM

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ENAM for ontologies           About GeneDecksing



    ENAM Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ENAM


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ENAM for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR015673 Enamelin

    Graphical View of Domain Structure for InterPro Entry Q9NRM1

    ProtoNet protein and cluster: Q9NRM1


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030345structural constituent of tooth enamel NAS--
         
    ENAM for ontologies           About GeneDecksing


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

    ENAM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ENAM 

    miRNA
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    OriGene 3'-UTR Clone: ENAM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENAM
    2 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ENAM (see all 7)
    OriGene shRNA RFP: ENAM
    OriGene siRNA: ENAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENAM
    Sirion Biotech Custom design and validation of potent shRNA sequences against ENAM 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ENAM 
    Sirion Biotech Customized adenovirus for potent knockdown of ENAM

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ENAM
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    Sirion Biotech Customized inducible knockdown cell line services for ENAM
    Sirion Biotech Customized stable overexpressing cell line services for ENAM
    Sirion Biotech Customized inducible overexpressing cell line services for ENAM

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for ENAM (ENSP000003793834) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEP15ENSP000003287294STRING: ENSP00000328729
    C11orf68ENSP000003983504STRING: ENSP00000398350
    TMEM66ENSP000002562554STRING: ENSP00000256255
    AHSGENSP000003938874STRING: ENSP00000393887
    MFAP5ENSP000003524554STRING: ENSP00000352455
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030282bone mineralization NAS--
    GO:0042476odontogenesis NAS--
    GO:0097186amelogenesis IEA--

    ENAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ENAM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ENAM
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ENAM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ENAM gene: 
    NM_031889.2  

    Unigene Cluster for ENAM:

    Enamelin
    Hs.667018  [show with all ESTs]
    Unigene Representative Sequence: AF125373
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396073(uc011caw.1) ENST00000472597 ENST00000472903 ENST00000509221


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: ENAM
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENAM
    2 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ENAM (see all 7)
    OriGene shRNA RFP: ENAM
    OriGene siRNA: ENAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENAM
    Sirion Biotech Custom design and validation of potent shRNA sequences against ENAM 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENAM (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENAM
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM

    Additional cDNA sequence: 

    AF125373.1 AF210247.1 BC117308.1 BC117310.1 BC171756.1 

    3 DOTS entries:

    DT.70103210  DT.40310739  DT.99979611 

    12 AceView cDNA sequences:

    BX098849 BU741192 AF125373 NM_031889 BM726916 AI675060 AI627857 AF210247 
    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ENAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAACACCGT
    ENAM Expression
    About this image
    See ENAM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ENAM

    SOURCE GeneReport for Unigene cluster: Hs.667018

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

        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ENAM gene from 2/8 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 65.79(n)1
    52.27(a)1
      5 (43.66 cM)5
    138011  NM_017468.31  NP_059496.11 
     884879825 
    lizard
    (Anolis carolinensis)
    Reptilia D8WMZ4_ANOCA6
    Enamelin
    28(a)
    1 ↔ 1
    2(74750497-74770488)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/380 NCBI SNPs in ENAM are shown (see all 380    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777657711,2
    F--67296596(+) CCCAGG/ATTAAC 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs728596441,2
    C--67296660(+) ACATTA/TAAAAA 1 -- us2k12Minor allele frequency- T:0.08WA 120
    rs283769491,2
    C,F,H--67296714(+) AATTGC/TCTGAA 1 -- us2k121Minor allele frequency- T:0.31NS EA NA WA CSA 2347
    rs1124215741,2
    --67297115(+) TTGTGC/GCCAAG 1 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs25533241,2
    C,F,A--67297522(-) GCCTCT/CCTGCT 1 -- us2k14Minor allele frequency- C:0.03EA NA 1624
    rs556950431,2
    C--67297577(+) ACTTCC/TCTGTC 1 -- us2k10--------
    rs26094311,2
    C--67297757(-) ATTCTC/TCTGTT 1 -- us2k10--------
    rs26094301,2
    C,A--67297888(-) CTGAAA/GCAGTT 1 -- us2k10--------
    rs25533231,2
    C,F,A--67297963(-) GTTGGG/TTACAA 1 -- us2k13Minor allele frequency- T:0.22NA 140
    rs559764071,2
    C--67298335(+) ATAAGA/GGACTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENAM (71494461 - 71552533 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ENAM: --
    Human Gene Mutation Database (HGMD): ENAM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    ENAM for disorders           About GeneDecksing

    OMIM gene information: 606585   
    OMIM disorders: 104500  204650  
    UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
  • Defects in ENAM are the cause of amelogenesis imperfecta type 1B (AI1B) [MIM:104500]. AI1B is 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 spaced teeth (smooth hypoplastic AI). Others show horizontal
    rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI)
  • Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM:204650]; also known as
  • amelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect of
    dental enamel formation. Teeth show 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

    16 diseases for ENAM:    About MalaCards
    amelogenesis imperfecta    amelogenesis imperfecta, type ic    amelogenesis imperfecta, type ib    craniofacial anomalies
    cleft lip/palate    dentinogenesis imperfecta    cleft lip    tooth agenesis
    dentin dysplasia    polycystic kidney disease    kidney disease    craniopharyngioma
    autoimmune hepatitis    hepatitis c    amyloidosis    hepatitis

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

    8 Novoseek 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)

    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)
    About This Section

    PubMed articles for ENAM gene, integrated from 9 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. (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. (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. (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. (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. (2001)
    6. 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. (2007)
    7. Enamelin and autosomal-dominant amelogenesis imperfecta. (PubMed id 14656895)1, 9 Hu J.C. and Yamakoshi Y. (2003)
    8. 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. (2003)
    9. Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. (PubMed id 10831092)1, 9 Hu C.C....Simmer J.P. (2000)
    10. Candidate gene strategy reveals ENAM mutations. (PubMed id 19329462)1, 9 Kang H.Y....Kim J.W. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10117 HGNC: 3344 AceView: ENAM Ensembl:ENSG00000132464 euGenes: HUgn10117
    ECgene: ENAM H-InvDB: ENAM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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