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AMBN Gene

protein-coding   GIFtS: 54

GC04P071506
ameloblastin (enamel matrix protein)
(Previous names: ameloblastin, enamel matrix protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ameloblastin 2
Descriptions
ameloblastin (enamel matrix protein) 2
ameloblastin, enamel matrix protein 1
External Ids
HGNC: 4521
Entrez Gene: 2582
UniProtKB: Q9NP703
Ensembl: ENSG000001785227
Search outside databases for aliases for AMBN gene

Previous GC identifers: GC04U990004 GC04M9L0081 GC04P071774 GC04P071638

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AMBN:
Ameloblastin is thought to represent an unique ameloblast-specific gene product that may be
important in enamel matrix formation and mineralization. The gene is located on chromosome 4 near
other genes associated with mineralized tissues: osteopontin, bone sialoprotein, and bone
morphogenetic protein 3. Based on its cytogenetic location, this gene is a candidate gene for one
form of the disorder, dentinogenesis imperfecta, and/or the disorder, autosomal dominant
amylogenesis imperfecta. [provided by RefSeq]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AMBN gene  

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)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P071506:     (about GC identifiers)

Start:
71,492,582 bp from pter
End:
71,507,594 bp from pter
Size:
15,013 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_077444.3  
(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)
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UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70 (See protein sequence)
Recommended Name: Ameloblastin precursor  
Size: 447 amino acids; 48283 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q9H2X1 Q9H4L1
Alternative splicing: 2 isoforms:  Q9NP70-1   Q9NP70-2   

REFSEQ proteins: NP_057603.1  

ENSEMBL proteins: 
ENSP00000313809 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (AMBN)
Human Recombinant Proteins from Abnova (AMBN)
                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--
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Antibodies for AMBN: 
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R&D Systems Antibodies for AMBN (Ameloblastin)
Antibodies from Abcam (AMBN), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (AMBN)
Novus Biologicals Antibodies for AMBN

Assays for AMBN: 
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Browse Kits and Assays available from Millipore
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR007798 Amelin


   GeneDecks  AMBN for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NP70

ProtoNet protein and cluster: Q9NP70

1 Blocks protein family: IPB007798 Ameloblastin precursor

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

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (AMBN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016519

              Applied Biosystems Silencer® siRNAs for AMBN

              Sigma-Aldrich siRNA for AMBN  
                     Sigma-Aldrich shRNA for AMBN  
                     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_016519
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016519
                                 untagged cDNA clone in CMV expression vector: NM_016519 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_016519

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

Genatlas biochemistry entry for AMBN:
ameloblastin,enamel sheath protein

3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ambn):

craniofacialskeletontumorigenesis

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008083 growth factor activity ISS--
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



5/14 Interacting proteins for AMBN (ENSP000003138093) via UniProtKB, MINT, and/or STRING (see all 14 )
InteractantInteraction Details
GeneCardExternal ID(s)
AMELXENSP000003700883STRING (score=.992)
ENAMENSP000002548003STRING (score=.961)
AMTNENSP000003410133STRING (score=.916)
TUFT1ENSP000003578423STRING (score=.908)
NTF4ENSP000003014113STRING (score=.863)
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0007155 cell adhesion ISS--
GO:0008283 cell proliferation ISS--
GO:0030282 bone mineralization NAS--
GO:0042475 odontogenesis of dentine-containing tooth IEA--
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 AMBN

(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 (AMBN)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016519

              Sigma-Aldrich siRNA for AMBN  
                     Sigma-Aldrich shRNA for AMBN  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_016519  

REFSEQ mRNAs for AMBN gene: 

NM_016519.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_016519  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016519
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016519
                                 untagged cDNA clone in CMV expression vector: NM_016519 

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

highest scoring ESTs for AMBN:

AF209780 AF219994 AF263464 AJ537437 BG186598 BG195227 BG208788 BG213392 BG190153 BG193219 

Unigene Cluster for AMBN:

Ameloblastin (enamel matrix protein)
Hs.272396  [show with all ESTs]
Unigene Representative Sequence: AF209780


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for AMBN

1 Ensembl transcript including schematic representation:
ENST00000322937  
(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

AMBN expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for AMBN

1 / 2 / 3

2 probe-sets matching AMBN gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

221114_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016519 0.60 1.00 0.82 1

221114_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCATTTCCAA

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

(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 AMBN gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
AMBN1   -- ameloblastin (enamel matrix protein) 84.23(n)
75.98(a)
482185  XM_539304.2  XP_539304.2 
chimpanzee
(Pan troglodytes)
AMBN1   -- ameloblastin (enamel matrix protein) 99.85(n)
99.78(a)
741969  XM_001160377.1  XP_001160377.1 
cow
(Bos taurus)
AMBN1   -- ameloblastin (enamel matrix protein) 82.27(n)
70.84(a)
280995  NM_173988.2  NP_776413.1 
rat
(Rattus norvegicus)
Ambn1   -- ameloblastin 77.8(n)
66.35(a)
25376  NM_012900.1  NP_037032.1 
mouse
(Mus musculus)
Ambn1, 5 5 (46.00 cM)5
ameloblastin1, 5 77.72(n)1
65.84(a)1
116981  NM_009664.11  NP_033794.11 
 AK0172505  AK0174245  (see all 7)
About this table        Species with no ortholog for AMBN

ENSEMBL Gene Tree for AMBN
(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


10/116 NCBI SNPs in AMBN are shown (see all 116 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 23)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 4 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs74391861,2
C,F,H71504193(-) GTCTGG/ACAGGG 1 V/A mis14Minor allele frequency- A:0.14EU EA WA 400
--
rs68316061,2
A71507965(-) GGCACC/TTCTTC 1 -- ng310--------
--
rs39245731,2
C,F,H71493837(-) GGCTTT/CTGACT 1 -- int112Minor allele frequency- C:0.14EU EA WA NA 1048
rs46940751,2
C,F,H71501503(+) CTTTAT/CGAGCA 1 -- int112Minor allele frequency- C:0.44EU EA WA NA 1052
--
rs66053531,2
A,C71504577(-) TAAATC/GGTCCC 1 -- int10--------
--
rs39245741,2
C,F71493321(-) TATGAA/GTTTAA 1 -- int13Minor allele frequency- G:0.40NA 140
--
rs76584481,2
C71505064(-) gcttcA/Ggcctc 1 -- int10--------
rs359360341,2
F71500816(+) CAAGAC/TAACAT 1 -- int14Minor allele frequency- T:0.12NA EA 362
--
rs285092001,2
C71501040(+) TTTTTC/TGTTTA 1 -- int10--------
rs345384751,2
F71505765(+) CACAGG/TCCTGC 1 -- int12Minor allele frequency- T:0.27NA 182
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HapMap Linkage Disequilibrium images for AMBN (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: 601259

UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70
  • Defects in AMBN are found in patients with ameloblastomas
  • 3 Novoseek disease relationships for AMBN gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 94.58 7 11330937 (2), 12657627 (2), 9126491 (1), 9189626 (1) (see all 5)
    ameloblastoma 59.02 8 17331365 (3), 15288841 (1), 11054529 (1)
    tumors 4.55 2 17331365 (2)
    About this table

    Human Genome Epidemiology Navigator: AMBN (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

    10/53 PubMed articles for AMBN gene (see all 53 ):
    (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: 258 HGNC: 452 AceView: AMBN Ensembl:ENSG00000178522 euGenes: HUgn258
    ECgene: AMBN H-InvDB: AMBN
    (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 AMBN:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


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


      
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for AMBN

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