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Mmp20 Gene Detail
Summary
  • Symbol
    Mmp20
  • Name
    matrix metallopeptidase 20 (enamelysin)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353466
    NCBI Gene: 30800
  • Gene Overview
    MyGene.info: MMP20
Location & Maps
more
  • Genetic Map
    Chromosome 9, 2.46 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MMP20, matrix metallopeptidase 20
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MMP20, matrix metallopeptidase 20
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AI2A2, MMP-20
  • Links
    NCBI Gene ID: 9313
    neXtProt AC: NX_O60882

  • Chr Location
    11q22.3; chr11:102576835-102625332 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mmp20 mouse models; 1 with human MMP20 associations

Human Disease Mouse Models
       Amelogenesis Imperfecta, Hypomaturation Type, Iia2; AI2A2   OMIM: 612529 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    3 images
    10 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
    5
  • Chemically induced (ENU)
    1
  • Targeted
    1
  • Transgenic
    3
  • Incidental Mutations
Mice homozygous for a knockout allele exhibit a severe and profound tooth phenotype that includes altered amelogenin processing, enamel that delaminates from dentin, a hypoplastic enamel, a disorganized prism pattern, and a progressively deteriorating enamel morphology.
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 30800 NCBI Gene Model | MGI Sequence Detail 46738 C57BL/6J ±  kb
transcript NM_013903 RefSeq | MGI Sequence Detail 3276 C57BL/6  
polypeptide P57748 UniProt | EBI | MGI Sequence Detail 482 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    395 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
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  • All nucleic 8
    cDNA 5
    Primer pair 2
    Other 1

    Microarray probesets 2
References
more
  • Summaries
    All 38
    Developmental Gene Expression 9
    Diseases 1
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:60096 Caterina J, et al., Isolation, characterization, and chromosomal location of the mouse enamelysin gene. Genomics. 1999 Dec 1;62(2):308-11
  • Latest
    J:206207 Shin M, et al., Matrix Metalloproteinase-20 Over-Expression Is Detrimental to Enamel Development: A Mus musculus Model. PLoS One. 2014 Jan 23;9(1):e86774

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
08/17/2016
MGI 6.05
The Jackson Laboratory