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Ambn Gene Detail
Summary
  • Symbol
    Ambn
  • Name
    ameloblastin
  • Feature Type
    protein coding gene
  • IDs
    MGI:104655
    NCBI Gene: 11698
  • Gene Overview
    MyGene.info: AMBN
Location & Maps
more
  • Sequence Map
    Chr5:88455991-88468531 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12541 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 43.63 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    AMBN, ameloblastin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AMBN, ameloblastin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AI1F
  • Links
    NCBI Gene ID: 258
    neXtProt AC: NX_Q9NP70

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

Human Diseases
more
  • Diseases
    1 with human AMBN associations

Human Disease Mouse Models
       Amelogenesis Imperfecta, Type IF; AI1F   OMIM: 616270
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    3 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    1
  • Transgenic
    2
  • Genomic Mutations
    4 involving Ambn
  • Incidental Mutations
Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    14 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003985 ameloblastin
  • InterPro Domains
    IPR007798 Ameloblastin precursor
Molecular
Reagents
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  • All nucleic 25
    cDNA 19
    Primer pair 5
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-26095
References
more
  • Summaries
    All 58
    Developmental Gene Expression 26
    Diseases 1
    Gene Ontology 4
    Phenotypes 11
  • 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:225436 Geng S, et al., Protein Interaction between Ameloblastin and Proteasome Subunit alpha Type 3 Can Facilitate Redistribution of Ameloblastin Domains within Forming Enamel. J Biol Chem. 2015 Aug 21;290(34):20661-73

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
07/12/2016
MGI 6.04
The Jackson Laboratory