Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ENAM Gene

protein-coding   GIFtS: 49
GCID: GC04P071494

Enamelin

(Previous names: amelogenesis imperfecta 2, hypocalcification (autosomal...)
(Previous symbol: AIH2)
  See 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)
About This Section

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   

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ENAM at MOPED 

Post-translational modifications:

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

  • ENAM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ENAM
    OriGene Custom MassSpec 
    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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ENAM
    GenScript Custom Superior Antibodies Services for ENAM
    Novus Biologicals ENAM Antibodies
    Abcam antibodies for ENAM
    Cloud-Clone Corp. Antibodies for ENAM 
    ThermoFisher Antibody for ENAM
    LSBio Antibodies in human, mouse, rat for ENAM 

    Assay Products for ENAM: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ENAM
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ENAM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ENAM 
    Cloud-Clone Corp. CLIAs for ENAM


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

    Graphical View of Domain Structure for InterPro Entry Q9NRM1

    ProtoNet protein and cluster: Q9NRM1


    ENAM for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 - Custom generated mouse model solutions for ENAM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    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 RNAi products in human, mouse, rat for ENAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENAM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ENAM
    Sirion Biotech Customized adenovirus for overexpression of ENAM

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of ENAM 
                         Customized lentivirus expression plasmids for stable overexpression of ENAM 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ENAM
    Search LifeMap BioReagents cell lines 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, Sino Biological, 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 Oct 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030282bone mineralization NAS--
    GO:0042475odontogenesis of dentin-containing tooth ----
    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, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about ENAM

    (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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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:
         
    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 RNAi products in human, mouse, rat for ENAM
    QIAGEN FlexiTube/FlexiPlate 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
    Sirion Biotech Customized lentivirus for stable overexpression of ENAM 
                         Customized lentivirus expression plasmids for stable overexpression of ENAM 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ENAM
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ENAM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM

    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.70103210  DT.40310739  DT.99979611 

    12 AceView cDNA sequences:

    BM726916 BX098849 NM_031889 AF125373 BU741192 AF210247 AI675060 AI627857 
    AI078135 AW466983 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)      ENAM embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Early Ameloblasts Dental Enamel

    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
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ENAM
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ENAM
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM
    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 ENAM6
    Uncharacterized protein
    27(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)
    About This Section
      --

    (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) 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

    10/484 SNPs in ENAM are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 14 diseases for ENAM:    About MalaCards
    amelogenesis imperfecta, type ic    amelogenesis imperfecta, type ib    amelogenesis imperfecta    dentin dysplasia
    craniopharyngioma    dentinogenesis imperfecta    tooth agenesis    autoimmune hepatitis
    cleft lip    polycystic kidney disease    kidney disease    amyloidosis
    hepatitis c    hepatitis

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

    ENAM for disorders           About GeneDecksing

    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)
    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. Enamel formation genes are associated with high caries experience in Turkish children. (PubMed id 18781068)1, 4, 9 Patir A....Vieira A.R. (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. (2007)
    8. Enamelin and autosomal-dominant amelogenesis imperfecta. (PubMed id 14656895)1, 9 Hu J.C. and Yamakoshi Y. (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. (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. (2000)

    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, 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, genOway)
    About This Section

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

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ENAM  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ENAM  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ENAM  
     OriGene qSTAR qPCR primer pairs in human, mouse for ENAM   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ENAM   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ENAM   OriGene Custom Protein Services for ENAM  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ENAM
     QIAGEN SeqTarget long-range PCR primers for resequencing ENAM
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENAM
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENAM
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENAM
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENAM
     GenScript Custom Purified and Recombinant Proteins Services for ENAM GenScript cDNA clones with any tag delivered in your preferred vector for ENAM
     GenScript Custom Assay Services for ENAM GenScript Custom Superior Antibodies Services for ENAM
     GenScript Custom overexpressing Cell Line Services for ENAM CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ENAM promoter
     Search Chromatin IP Primers for ENAM
     RT2 qPCR Primer Assay in human, mouse, rat ENAM
     Search GNC Networks for ENAM
     SABiosciences Custom PCR Arrays for ENAM
     Search Tocris compounds for ENAM
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ENAM antibodies
     ENAM proteins
     ENAM lysates
     Antibodies for ENAM
     See all of Abcam's Antibodies, Kits and Proteins for ENAM
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ENAM
     Antibodies for ENAM
     ELISAs for ENAM
     CLIAs for ENAM
     Search LifeMap BioReagents cell lines for ENAM
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENAM
     SwitchGear 3'UTR luciferase reporter plasmids for ENAM
     SwitchGear Promoter luciferase reporter plasmids for ENAM
     ThermoFisher Antibody for ENAM
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENAM
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ENAM
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ENAM
    Customized:
     lentivirus for stable overexpression of ENAM
     lentivirus expression plasmids for stable overexpression of ENAM
     adenovirus for overexpression of ENAM
     LSBio Antibodies in human, mouse, rat for ENAM
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ENAM gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4