AMBN Gene
protein-coding GIFtS: 48
GCID: GC04P071457
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ameloblastin (enamel matrix protein)(Previous names: ameloblastin, enamel matrix protein )
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Aliases
for AMBN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ameloblastin (Enamel Matrix Protein)1 2 | | Ameloblastin, Enamel Matrix Protein1 | | Ameloblastin1 |
Export aliases for AMBN gene to outside databasesPrevious GC identifers: GC04U990004 GC04P071506 GC04M9L0081 GC04P071774 GC04P071638 GC04P067260 |
Summaries
for AMBN gene(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 AMBN:
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamelmatrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster onchromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominantamylogenesis imperfect. (provided by RefSeq, Aug 2011)
UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70Function: Involved in the mineralization and structural organization of enamel
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Genomic Views
for AMBN 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_022778.16
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for AMBN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 4q21AMBN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P071457: view genomic region
(about GC identifiers)
Start:
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71,457,973 bp from pter |
End:
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71,473,005 bp from pter |
Size:
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15,033 bases |
Orientation:
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plus strand |
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Proteins
for AMBN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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: Q3B862 Q9H2X1 Q9H4L1Alternative splicing: 2 isoforms: Q9NP70-1 Q9NP70-2 Explore the universe of human proteins at neXtProt for AMBN: NX_Q9NP70
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NP70
AMBN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057603.1
ENSEMBL proteins: ENSP00000313809 ENSP00000391234
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005578 | proteinaceous extracellular matrix |
NAS | -- |
AMBN for ontologies About GeneDecksing
AMBN Antibody Products:
Assay Products for AMBN: |
Protein
Domains /
Families
for AMBN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AMBN for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NP70ProtoNet protein and cluster: Q9NP70 1 Blocks protein family: IPB007798 Ameloblastin precursor
UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70Similarity: Belongs to the ameloblastin family |
Function
for AMBN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70Function: Involved in the mineralization and structural organization of enamel Genatlas biochemistry entry for AMBN:ameloblastin,enamel sheath protein
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMBN
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMBN |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008083 | growth factor activity |
ISS | -- | | GO:0030345 | structural constituent of tooth enamel |
NAS | -- |
AMBN for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Ambntm1Nid for AMBN
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ambn):
AMBN for phenotypes About GeneDecksing
|
Pathways & Interactions
for AMBN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMBN
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
AMBN for ontologies About GeneDecksing
|
Drugs & Compounds
for AMBN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AMBN
Search CenterWatch for drugs/clinical trials and news about AMBN
|
Transcripts
for AMBN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0165192 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000322937(uc003hfl.3) ENST00000449493
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMBN (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMBN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AMBN (NM_016519) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AMBN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMBN |
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: AF219994 NM_016519 AF263464 AJ537437 BG208788 BG213392 AF209780 BG208157 BG195227 BG218715 BG186598 BG190153 BG200369 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 |
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AMBN
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Expression
for AMBN gene
(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
| AMBN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCATTTCCAA
About this image
See AMBN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AMBN
SOURCE GeneReport for Unigene cluster: Hs.272396
UniProtKB/Swiss-Prot: AMBN_HUMAN, Q9NP70Tissue specificity: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheathspace between rod-interrod enamel
SABiosciences Custom PCR Arrays for AMBN
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMBN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMBN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMBN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMBN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMBN |
Orthologs
for AMBN gene
(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 human and mouse.
Orthologs for AMBN gene from 1/7 species (see all 7) About this table
ENSEMBL Gene Tree for AMBN (if available)
TreeFam Gene Tree for AMBN (if available) |
Paralogs
for AMBN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for AMBN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
| | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMBN |
|
Disorders
/ Diseases
for AMBN gene
(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.)
About This Section
|
AMBN for disorders About GeneDecksing
OMIM gene information: 601259
OMIM disorders: --
3  diseases for AMBN: About MalaCardsamelogenesis imperfecta dental pulp necrosis dentin dysplasia
2 diseases from the University of Copenhagen DISEASES database for AMBN:Amelogenesis imperfecta Dentin dysplasia 3 Novoseek disease relationships for AMBN gene About this table
Human Genome Epidemiology (HuGE) Navigator: AMBN (1 document)
Export disorders for AMBN gene to outside databases
|
Publications
for AMBN gene (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 AMBN gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with AMBN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, characterization and immunolocalization of human ameloblastin. (PubMed id 10946765)1, 2, 9 MacDougall M.... Berdal A. (2000)
- 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. (1997)
- Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. (PubMed id 11330937)1, 2, 9 Mardh C.K.... Forsman-Semb K. (2001)
- Cloning and characterization of the human ameloblastin gene. (PubMed id 11054529)1, 2, 9 Toyosawa S.... Ijuhin N. (2000)
- 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. (2008)
- Ameloblastin expression in rat incisors and human tooth germs. (PubMed id 9032019)1, 9 Lee S.K....Yamada Y. (1996)
- [Mutation and polymorphism of the ameloblastin gene in ameloblastomas] (PubMed id 17331365)1, 9 Niu C.H. and Li T.J. (2006)
- Mutation of ameloblastin gene in calcifying epithelia l odontogenic tumor. (PubMed id 19661317)1, 9 PerdigALo P.F....Gomez R.S. (2009)
- Identification of a fibronectin interaction site in t he extracellular matrix protein ameloblastin. (PubMed id 20043904)1, 9 Beyeler M....Trueb B. (2010)
- Enamel formation genes are associated with high caries experience in Turkish children. (PubMed id 18781068)1, 9 Patir A....Vieira A.R. (2008)
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External Searches for AMBN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing AMBN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AMBN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AMBN gene(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
|
| Name | Description |
| PharmGKB entry for AMBN | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for AMBN gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AMBN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMBN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMBN | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AMBN | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMBN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMBN | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMBN |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMBN |
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