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AMTN Gene

protein-coding   GIFtS: 40
GCID: GC04P071419

Amelotin

  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)
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Aliases
amelotin1 2
RSTI6892
UNQ6892

External Ids:    HGNC: 331881   Entrez Gene: 4011382   Ensembl: ENSG000001876897   OMIM: 6109125   UniProtKB: Q6UX393   

Export aliases for AMTN gene to outside databases

Previous GC identifer: GC04P067186


(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 AMTN Gene:
The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and
epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins
necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and
ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in
maturation-stage ameloblasts (Iwasaki et al., 2005 (PubMed 16304441)).(supplied by OMIM, Mar 2008)

GeneCards Summary for AMTN Gene:
AMTN (amelotin) is a protein-coding gene. Diseases associated with AMTN include exotropia, and dental fluorosis.

UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39
Function: Could be a cell adhesion protein involved in the maturation of tooth enamel




(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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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMTN gene promoter:
         Nkx3-1   STAT1   Nkx3-1 v4   Nkx3-1 v1   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   Chx10   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMTN promoter sequence
   Search Chromatin IP Primers for AMTN

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


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

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071419:  view genomic region     (about GC identifiers)

Start:
71,384,257 bp from pter      End:
71,398,459 bp from pter
Size:
14,203 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, 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., 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: AMTN_HUMAN, Q6UX39 (See protein sequence)
Recommended Name: Amelotin precursor  
Size: 209 amino acids; 21588 Da
Secondary accessions: Q0P503 Q0P506
Alternative splicing: 2 isoforms:  Q6UX39-1   Q6UX39-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMTN: NX_Q6UX39

Explore proteomics data for AMTN at MOPED

Post-translational modifications: 

  • O-glycosylated (By similarity)1
  • Modification sites at neXtProt

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273660.1  NP_997722.1  

    ENSEMBL proteins: 
     ENSP00000341013   ENSP00000422452  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q6UX39

    UniProtKB/Swiss-Prot: AMTN_HUMAN, Q6UX39
    Similarity: Belongs to the amelotin family


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMTN_HUMAN, Q6UX39
    Function: Could be a cell adhesion protein involved in the maturation of tooth enamel

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    AMTN for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Amtn (no phenotypes)

    AMTN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Amtntm1Lex for AMTN

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    (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
    AMTN_HUMAN, Q6UX39: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    mitochondrion2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ISS16304441
    GO:0005605basal lamina ISS16787391
    GO:0005911cell-cell junction ISS16787391

    AMTN for ontologies           About GeneDecksing


    (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 AMTN
    Interactions:

        Search GeneGlobe Interaction Network for AMTN

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0031214biomineral tissue development IEA--
    GO:0042475odontogenesis of dentin-containing tooth ISS16304441

    AMTN for ontologies           About GeneDecksing



    (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 Tocris compounds for AMTN



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AMTN gene (2 alternative transcripts): 
    NM_001286731.1  NM_212557.3  

    Unigene Cluster for AMTN:

    Amelotin
    Hs.453069  [show with all ESTs]
    Unigene Representative Sequence: AY358528
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339336(uc003hfk.1 uc010ihy.1) ENST00000504451
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate AMTN:
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB593161.1 AY358528.1 BC121812.1 BC121817.1 

    1 DOTS entry:

    DT.97766005 

    5 AceView cDNA sequences:

    BU727294 NM_212557 BM688820 AY358528 BF664579 

    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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    AMTN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATCTTTA
    AMTN Expression
    About this image


    AMTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced SM30 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced SM30 cells
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
    AMTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.453069
        Custom PCR Arrays for AMTN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMTN

    (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 human and mouse.

    Orthologs for AMTN gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amtn1 , 5 amelotin1, 5 76.28(n)1
    61.06(a)1
      5 (43.56 cM)5
    714211  NM_027793.11  NP_082069.11 
     883761085 


    ENSEMBL Gene Tree for AMTN (if available)
    TreeFam Gene Tree for AMTN (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 AMTN (see all 461)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357914
    A colorectal cancer sample4--see VAR_0357912 G S mis40--------
    rs32232591,2
    C--71270836(+) CTTAG-/CA    
       
    /CACA
    cacac
    1 -- int11NA 2
    rs1899959131,2
    --71382317(+) GTTTTA/GTCCCA 1 -- us2k10--------
    rs131233831,2
    C,F,H--71382325(+) CCAGAC/GACTGA 1 -- us2k123Minor allele frequency- G:0.23NS EA NA WA 2736
    rs1812563691,2
    --71382358(+) TGAATA/CTATGT 1 -- us2k10--------
    rs286443311,2
    C--71382372(+) ATGAGA/GGCTGG 1 -- us2k16Minor allele frequency- G:0.36NA WA EA 364
    rs284057041,2
    C--71382382(+) GAAAAA/GTGAAT 1 -- us2k16Minor allele frequency- G:0.36NA WA EA 364
    rs284055291,2
    C--71382405(+) AGAAAC/TAATGA 1 -- us2k1 tfbs35Minor allele frequency- T:0.37NA WA EA 362
    rs1853283141,2
    --71382577(+) AAAATA/CTTCCC 1 -- us2k10--------
    rs738265321,2
    C,F--71382635(+) TATTCG/ATCAAC 1 -- us2k12Minor allele frequency- A:0.16WA 120

    HapMap Linkage Disequilibrium report for AMTN (71384257 - 71398459 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AMTN: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMTN
    DNA2.0 Custom Variant and Variant Library Synthesis for AMTN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610912    OMIM disorders: --

    5 diseases for AMTN:    
    About MalaCards
    exotropia    dental fluorosis    amelogenesis imperfecta    breast and colorectal cancer
    colorectal cancer

    3 diseases from the University of Copenhagen DISEASES database for AMTN:
    Amelogenesis imperfecta     Dental fluorosis     Exotropia

    AMTN for disorders           About GeneDecksing


    Export disorders for AMTN 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 AMTN gene integrated from 10 sources:
    (articles sorted by number of sources associating them with AMTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Amelotin--a Novel Secreted, Ameloblast-specific Protein. (PubMed id 16304441)1, 3 Iwasaki K....Ganss B. (J. Dent. Res. 2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    6. Cloning of rat amelotin and localization of the protein to the basal lamina of maturation stage ameloblasts and junctional epithelium. (PubMed id 16787391)1 Moffatt P....Nanci A. (Biochem. J. 2006)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 401138 HGNC: 33188 AceView: UNQ689 Ensembl:ENSG00000187689 euGenes: HUgn401138
    ECgene: AMTN H-InvDB: AMTN

    (According to HUGE)
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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 AMTN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AMTN gene:
    Search GeneIP for patents involving AMTN

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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