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ENAM Gene

protein-coding   GIFtS: 50

GC04P071734
enamelin
(Previous names: amelogenesis imperfecta 2, hypocalcification (autosomal dominant) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AIH2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ADAI 2
AI1C 2, 5
AIH2 2, 5
OTTHUMP00000160363 2
enamelin 2
Descriptions
amelogenesis imperfecta 2, hypocalcification (autosomal
dominant) 1, 2
External Ids
HGNC: 33441
Entrez Gene: 101172
UniProtKB: Q9NRM13
Ensembl: ENSG000001324647
Search outside databases for aliases for ENAM gene

Previous GC identifers: GC04P071451 GC04P071895 GC04P071960 GC04P071859

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

EntrezGene summary for ENAM:
Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large,
highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought
to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix
molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259),
tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of
enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises
approximately 5% of total enamel matrix protein.[supplied by OMIM]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071734:     (about GC identifiers)

Start:
71,713,325 bp from pter
End:
71,731,405 bp from pter
Size:
18,081 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_006216.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_114095.2  

    ENSEMBL proteins: 
    ENSP00000254800 ENSP00000379383 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (ENAM)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix NAS--
    About this table

    Antibodies for ENAM: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for ENAM

    Assays for ENAM: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR015673 Enamelin


       GeneDecks  ENAM for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NRM1

    ProtoNet protein and cluster: Q9NRM1

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ENAM)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031889

                  Applied Biosystems Silencer® siRNAs for ENAM

                  Sigma-Aldrich siRNA for ENAM  
                         Sigma-Aldrich shRNA Panels and shRNA for ENAM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_031889
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_031889
                                     untagged cDNA clone in CMV expression vector: NM_031889 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_031889

    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

    2 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Enam):

    craniofacialskeleton

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030345 structural constituent of tooth enamel NAS--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    5/13 Interacting proteins for ENAM (ENSP000002548003) via UniProtKB, MINT, and/or STRING (see all 13 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMBNENSP000003138093STRING (score=.961)
    AMELXENSP000003700883STRING (score=.953)
    AMTNENSP000003410133STRING (score=.905)
    TUFT1ENSP000003578423STRING (score=.896)
    DSPPENSP000002824783STRING (score=.845)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030282 bone mineralization NAS--
    GO:0042476 odontogenesis NAS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ENAM
    2 Novoseek chemical compound relationships for ENAM gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyapatite 53.29 2 17957327 (1), 14656895 (1)
    calcium 0.00 4 18508280 (3), 1362507 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ENAM)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031889

                  Sigma-Aldrich siRNA for ENAM  
                         Sigma-Aldrich shRNA Panels and shRNA for ENAM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_031889  

    REFSEQ mRNAs for ENAM gene: 

    NM_031889.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_031889  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_031889
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_031889
                                     untagged cDNA clone in CMV expression vector: NM_031889 

    Additional cDNA sequence: 

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

    4 DOTS entries:

    DT.70103210  DT.40310739  DT.99979611  DT.100798802 

    12 AceView cDNA sequences:

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

    highest scoring ESTs for ENAM:

    AI627857 AF125373 AF210247 AI078135 AI675060 AW466983 BX098849 BM726916 BU428532 BU741192 

    Unigene Cluster for ENAM:

    Enamelin
    Hs.667018  [show with all ESTs]
    Unigene Representative Sequence: AF125373


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000254800  ENST00000396073  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ENAM expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ENAM

    1 / 2 / 3

    3 probe-sets matching ENAM gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    78557_at2, 3 U95-D 1 1.00 1.00 1.00 1.00 AI627857 1.00 1.00 1.00 1

    223893_at2, 3 U133-B 1 1.00 1.00 -- -- AF125373 0.80 1.00 0.91 1

    223893_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ENAM for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AAAACACCGT

    SOURCE GeneReport for Unigene cluster: Hs.667018

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ENAM gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ENAM1   -- enamelin 85.2(n)
    78.34(a)
    482186  XM_539305.2  XP_539305.2 
    chimpanzee
    (Pan troglodytes)
    ENAM1   -- enamelin 99.15(n)
    98.34(a)
    471209  XM_526591.2  XP_526591.1 
    cow
    (Bos taurus)
    ENAM1   -- enamelin 83.05(n)
    72.68(a)
    527075  XM_605463.3  XP_605463.3 
    rat
    (Rattus norvegicus)
    Enam1   -- enamelin 65.24(n)
    51.37(a)
    289525  XM_223338.3  XP_223338.3 
    mouse
    (Mus musculus)
    Enam1, 5 55
    enamelin1, 5 65.88(n)1
    52.59(a)1
    138011  NM_017468.21  NP_059496.11 
     AF3037375  BB0937945  (see all 8)
    About this table        Species with no ortholog for ENAM

    ENSEMBL Gene Tree for ENAM
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/58 NCBI SNPs in ENAM are shown (see all 58 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 44)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs76956111,2
    A,C,F,H71730020(+) TTCTAA/TTCCTC 1 -- ut31 ese34Minor allele frequency- T:0.09EU EA WA 418
    rs76648961,2
    A,C,F,H71729700(+) ACTTGC/GAAGTC 1 -- ut31 ese39Minor allele frequency- G:0.24NA EU EA WA 740
    rs76654921,2
    A,C,F,H71730123(+) TCTTCG/CTCTCT 1 -- ut31 ese37Minor allele frequency- C:0.23EU EA WA NA 560
    rs76712811,2
    A,C,F,H71727950(+) GGAGAT/CAGTCC 1 T/I mis18Minor allele frequency- C:0.16NA EU EA WA 624
    rs26094281,2
    C,F,H,O71727733(+) CACCTT/CTTAAG 1 L/F mis1 ese315Minor allele frequency- C:0.06EU EA WA NA 1396
    rs76795691,2
    A,C,F,H71729778(+) TTGGTT/CTTTCA 1 -- ut317Minor allele frequency- C:0.10EU EA WA NA 560
    rs10556601,2
    C,F,H71731235(+) agcgtT/Cagaag 1 -- ut31 ese38Minor allele frequency- C:0.04MN EU EA WA NA 740
    rs37967041,2
    C,F,H71728295(+) TTCACG/AGAATT 1 Q/R mis1 ese312Minor allele frequency- A:0.10NA EU EA WA 1052
    rs37967031,2
    C,F,H71728178(+) GAGCCC/TGGATG 1 P/L mis1 ese313Minor allele frequency- T:0.05EA EU WA 2512
    rs37967051,2
    F,H71728307(+) CTGGGA/GCCACA 1 D/G mis1 ese34Minor allele frequency- G:0.01EU EA WA 402
    About this table

    HapMap Linkage Disequilibrium images for ENAM (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 606585   disorders: 104500  204650  

    UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1

  • Defects in ENAM are the cause of amelogenesis imperfecta hypoplastic 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
  • 8 Novoseek disease relationships for ENAM gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 97.38 18 11037750 (4), 15723871 (2), 14656895 (2), 11379892 (1) (see all 11)
    odontogenic cyst calcifying 77.63 2 10872887 (1), 1374797 (1)
    odontogenic tumors 63.53 4 1374797 (2), 1933984 (1)
    open bite 52.44 1 15892947 (1)
    craniofacial anomaly 44.42 1 7554921 (1)
    hypoplasia 44.12 1 18714142 (1)
    malocclusion 28.49 1 15892947 (1)
    tumors 2.41 2 1374797 (2)
    About this table

    Human Gene Mutation Database: ENAM
    Human Genome Epidemiology Navigator: ENAM (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/78 PubMed articles for ENAM gene (see all 78 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ENAM:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ENAM-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for ENAM Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ENAM Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for ENAM

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