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AMBN Gene

protein-coding   GIFtS: 50
GCID: GC04P071457

Ameloblastin (Enamel Matrix Protein)

(Previous names: ameloblastin, enamel matrix protein)
  See AMBN-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
Ameloblastin (Enamel Matrix Protein)1 2
Ameloblastin, Enamel Matrix Protein1
ameloblastin2

External Ids:    HGNC: 4521   Entrez Gene: 2582   Ensembl: ENSG000001785227   OMIM: 6012595   UniProtKB: Q9NP703   

Export aliases for AMBN gene to outside databases

Previous GC identifers: GC04U990004 GC04P071506 GC04M9L0081 GC04P071774 GC04P071638 GC04P067260


(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 AMBN Gene:
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in
enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene
cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal
dominant amylogenesis imperfect. (provided by RefSeq, Aug 2011)

GeneCards Summary for AMBN Gene:
AMBN (ameloblastin (enamel matrix protein)) is a protein-coding gene. Diseases associated with AMBN include calcifying epithelial odontogenic tumor, and dentin dysplasia. GO annotations related to this gene include growth factor activity and structural constituent of tooth enamel.

UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70
Function: Involved in the mineralization and structural organization of 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 at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMBN gene promoter:
         HFH-3   AP-1   AML1a   POU3F2   GATA-2   GATA-1   Evi-1   Gfi-1   FOXI1   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMBN promoter sequence
   Search Chromatin IP Primers for AMBN

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


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

Entrez Gene cytogenetic band: 4q21   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q21

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071457:  view genomic region     (about GC identifiers)

Start:
71,457,973 bp from pter      End:
71,473,005 bp from pter
Size:
15,033 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70 (See protein sequence)
Recommended Name: Ameloblastin precursor  
Size: 447 amino acids; 48283 Da
Secondary accessions: Q3B862 Q9H2X1 Q9H4L1
Alternative splicing: 2 isoforms:  Q9NP70-1   Q9NP70-2   

Explore the universe of human proteins at neXtProt for AMBN: NX_Q9NP70

Explore proteomics data for AMBN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser112

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

    REFSEQ proteins: NP_057603.1  
    ENSEMBL proteins: 
     ENSP00000313809   ENSP00000391234  

    AMBN Human Recombinant Protein Products:

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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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    1 InterPro protein domain:
     IPR007798 Amelin

    Graphical View of Domain Structure for InterPro Entry Q9NP70

    ProtoNet protein and cluster: Q9NP70

    1 Blocks protein domain: IPB007798 Ameloblastin precursor

    UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70
    Similarity: Belongs to the ameloblastin family


    Find genes that share domains with AMBN           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: AMBN_HUMAN, Q9NP70
    Function: Involved in the mineralization and structural organization of enamel

         Genatlas biochemistry entry for AMBN:
    ameloblastin,enamel sheath protein

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008083growth factor activity ISS--
    GO:0030345structural constituent of tooth enamel IEA--
         
    Find genes that share ontologies with AMBN           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ambn):
     craniofacial  skeleton  tumorigenesis 

    Find genes that share phenotypes with AMBN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ambntm1Nid for AMBN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMBN
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    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate AMBN:
    hsa-miR-3163 hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidAMBN 3' UTR sequence
    Inhib. RNA
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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
    AMBN_HUMAN, Q9NP70: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    vacuole1

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

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

    Find genes that share ontologies with AMBN           About GenesLikeMe


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

        Search GeneGlobe Interaction Network for AMBN

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion ISS--
    GO:0008283cell proliferation ISS--
    GO:0030282bone mineralization ----
    GO:0031214biomineral tissue development IEA--
    GO:0042475odontogenesis of dentin-containing tooth IEA--

    Find genes that share ontologies with AMBN           About GenesLikeMe



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

    Browse Tocris compounds for AMBN



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AMBN gene: 
    NM_016519.5  

    Unigene Cluster for AMBN:

    Ameloblastin (enamel matrix protein)
    Hs.272396  [show with all ESTs]
    Unigene Representative Sequence: NM_016519
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322937(uc003hfl.3) ENST00000449493
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate AMBN:
    hsa-miR-3163 hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidAMBN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AMBN
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      QuantiFast Probe-based Assays in human, mouse, rat AMBN

    Additional mRNA sequence: 

    AF209780.1 AF219994.2 AF263464.1 AJ537437.1 AK314918.1 BC106931.1 BC106932.1 

    1 DOTS entry:

    DT.91666448 

    15 AceView cDNA sequences:

    NM_016519 AJ537437 AF219994 AF263464 BG213392 BG208788 AF209780 BG218715 
    BG208157 BG195227 BG190153 BG200369 BG186598 BG194708 BG214473 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for AMBN    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                          
    SP2:                                -                                                         


    ECgene alternative splicing isoforms for AMBN

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


    AMBN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 5 entries
             Early Ameloblasts Dental Enamel
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     NULL (Uncategorized)
             DKK1-induced cells
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    AMBN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMBN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272396

    UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70
    Tissue specificity: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath
    space between rod-interrod enamel

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMBN

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

    Orthologs for AMBN gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ambn1 , 5 ameloblastin1, 5 77.72(n)1
    65.84(a)1
      5 (43.63 cM)5
    116981  NM_009664.11  NP_033794.11 
     884560115 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ambn1 ameloblastin (enamel matrix protein) 49.92(n)
    37.8(a)
      100487059  XM_002938621.2  XP_002938667.2 


    ENSEMBL Gene Tree for AMBN (if available)
    TreeFam Gene Tree for AMBN (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 AMBN (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1808192351,2
    Cuntested171467214(+) GAAACA/C/TTTTTC 2 P L mis10--------
    rs1133447921,2
    F--71456022(+) AAAACG/ATCATT 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs285710941,2
    C,F--71456088(+) TTTGCC/TAGTTT 1 -- us2k18Minor allele frequency- T:0.27WA NA CSA EA 368
    rs355753971,2
    C--71456114(+) AGCTCG/ATTCCT 1 -- us2k14Minor allele frequency- A:0.11NA WA EA 360
    rs1460445171,2
    --71456129(+) ATTCAA/GCATCA 1 -- us2k10--------
    rs1176874871,2
    C,F--71456203(+) AGCTGC/TCAGCA 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs106341551,2
    C--71456224(+) TCCAG-/CA/CA 
    CACACACA
    cacac
    1 -- us2k10--------
    rs1437160091,2
    C--71456224(+) TCCAG-/CACACACACA
    CACACACACACA
    CACAC
    1 -- us2k10--------
    rs1919893441,2
    C--71456300(+) TCCTAC/G/TCAAAA 1 -- us2k10--------
    rs1398074471,2
    --71456318(+) CAACTC/TATTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMBN (71457973 - 71473005 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AMBN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4379CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMBN
    DNA2.0 Custom Variant and Variant Library Synthesis for AMBN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601259    OMIM disorders: --

    2 diseases for AMBN:    
    About MalaCards
    calcifying epithelial odontogenic tumor    dentin dysplasia

    2 diseases from the University of Copenhagen DISEASES database for AMBN:
    Amelogenesis imperfecta     Dentin dysplasia

    Find genes that share disorders with AMBN           About GenesLikeMe

    3 Novoseek inferred disease relationships for AMBN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 95.7 7 11330937 (2), 12657627 (2), 9126491 (1), 9189626 (1) (see all 5)
    ameloblastoma 63.2 12 17331365 (3), 19648121 (2), 15288841 (1), 11054529 (1)
    tumors 3.79 2 17331365 (2)

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

    Export disorders for AMBN 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 AMBN gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with AMBN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, characterization and immunolocalization of human ameloblastin. (PubMed id 10946765)1, 2, 9 MacDougall M.... Berdal A. (Eur. J. Oral Sci. 2000)
    2. Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. (PubMed id 9126491)1, 3, 9 MacDougall M....Forsman K. (Genomics 1997)
    3. Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. (PubMed id 11330937)1, 2, 9 Mardh C.K.... Forsman-Semb K. (Eur. J. Oral Sci. 2001)
    4. Cloning and characterization of the human ameloblastin gene. (PubMed id 11054529)1, 2, 9 Toyosawa S.... Ijuhin N. (Gene 2000)
    5. Enamel formation genes are associated with high caries experience in Turkish children. (PubMed id 18781068)1, 4, 9 Patir A....Vieira A.R. (Caries Res. 2008)
    6. Bioinformatic analysis and molecular modelling of human ameloblastin suggest a two-domain intrinsically unstructured calcium-binding protein. (PubMed id 18353005)1, 9 Vymetal J....Lyngstadaas S.P. (Eur. J. Oral Sci. 2008)
    7. Ameloblastin expression in rat incisors and human tooth germs. (PubMed id 9032019)1, 9 Lee S.K....Yamada Y. (Int. J. Dev. Biol. 1996)
    8. [Mutation and polymorphism of the ameloblastin gene in ameloblastomas]. (PubMed id 17331365)1, 9 Niu C.H. and Li T.J. (Zhonghua Kou Qiang Yi Xue Za Zhi 2006)
    9. Mutation of ameloblastin gene in calcifying epithelial odontogenic tumor. (PubMed id 19661317)1, 9 PerdigALo P.F....Gomez R.S. (Anticancer Res. 2009)
    10. Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin. (PubMed id 20043904)1, 9 Beyeler M....Trueb B. (Exp. Cell Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 258 HGNC: 452 AceView: AMBN Ensembl:ENSG00000178522 euGenes: HUgn258
    ECgene: AMBN H-InvDB: AMBN

    (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 AMBN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AMBN Genetics and Cytogenetics in Oncology and Haematology

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

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



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