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Ambn
Gene Detail
Symbol

Name
ID
Ambn
ameloblastin
MGI:104655
Feature Type
protein coding gene
Genetic Map
Chromosome 5
43.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr5:88455991-88468531 bp, + strand
From VEGA annotation of GRCm38

  12541 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7625  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

HCOP human homology predictions: AMBN
Gene Tree: Ambn

Human
homologs
AMBN, ameloblastin (enamel matrix protein)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 258
neXtProt AC: NX_Q9NP70

Human Synonyms: AI1F

Human Chr (Location): 4q21; chr4:70592258-70607288 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human AMBN

Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Targeted(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.
 
Phenotype Images(3)
Interactions
Ambn interacts with 144 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (26 records)
Data Summary: Results (86)    Tissues (32)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 30
Northern blot 16
RT-PCR 40
cDNA source data(17)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ambn    NEW 
Molecular
reagents
All nucleic(25) cDNA(19) Primer pair(5) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000055387 (Evidence)
Ensembl Gene Model ENSMUSG00000029288 (Evidence)
Entrez Gene 11698 (Evidence)
UniGene 8437
DFCI TC1585473, TC1591585
DoTS DT.60117344, DT.94169515
NIA Mouse Gene Index U005754
Consensus CDS Project CCDS51539.1, CCDS80322.1
International Mouse Phenotyping Consortium Status Ambn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055387 VEGA Gene Model | MGI Sequence Detail 12541 C57BL/6J ±  kb
transcript OTTMUST00000137123 VEGA | MGI Sequence Detail 1570 Not Applicable 
polypeptide OTTMUSP00000072269 VEGA | MGI Sequence Detail 422 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(4) UniProt(3)
Polymorphisms
RFLP(2) : SNPs within 2kb(14 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007798 Ameloblastin precursor
Protein Ontology PR:000003985 ameloblastin
References
(Earliest) J:31459 Krebsbach PH, et al., Full-length sequence, localization, and chromosomal mapping of ameloblastin. A novel tooth-specific gene. J Biol Chem. 1996 Feb 23;271(8):4431-5
(Latest) J:203117 Li X, et al., A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet. 2014 Jan 1;23(1):194-208
All references(60)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-26095

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory