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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:7628232-7674969 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 2.46 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    395 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353466
 protein coding gene Chr9:7628232-7674980 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034326
 protein coding gene Chr9:4487925-4535176 (+)
A/J MGP_AJ_G0034304
 protein coding gene Chr9:4592369-4639395 (+)
AKR/J MGP_AKRJ_G0034232
 protein coding gene Chr9:4462514-4510538 (+)
BALB/cJ MGP_BALBcJ_G0034298
 protein coding gene Chr9:4330293-4376999 (+)
C3H/HeJ MGP_C3HHeJ_G0034009
 protein coding gene Chr9:4652869-4703962 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034820
 protein coding gene Chr9:4654645-4708841 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031758
 protein coding gene Chr9:3850273-3899103 (+)
CAST/EiJ MGP_CASTEiJ_G0033337
 protein coding gene Chr9:4678352-4727032 (+)
CBA/J MGP_CBAJ_G0033982
 protein coding gene Chr9:4765054-4812092 (+)
DBA/2J MGP_DBA2J_G0034139
 protein coding gene Chr9:4469226-4517579 (+)
FVB/NJ MGP_FVBNJ_G0034084
 protein coding gene Chr9:4250704-4296792 (+)
LP/J MGP_LPJ_G0034225
 protein coding gene Chr9:4536493-4584782 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034128
 protein coding gene Chr9:5523791-5575938 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034839
 protein coding gene Chr9:4458163-4509400 (+)
PWK/PhJ MGP_PWKPhJ_G0033040
 protein coding gene Chr9:4595762-4643905 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032878
 protein coding gene Chr9:4702289-4741438 (+)
WSB/EiJ MGP_WSBEiJ_G0033452
 protein coding gene Chr9:4467824-4517476 (+)



Homology
more
  • Human Ortholog
    MMP20, matrix metallopeptidase 20
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MMP20, matrix metallopeptidase 20
  • Synonyms
    AI2A2, MMP-20
  • Links
    NCBI Gene ID: 9313
    neXtProt AC: NX_O60882
    UniProt: O60882

  • Chr Location
    11q22.2; chr11:102576832-102625332 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mmp20 mouse models; 1 with human MMP20 associations

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 2 genetic backgrounds
    3 images
    23 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.
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
less
  • All GO Annotations
    12
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    732
  • Tissues
    16
  • cDNA Data
    6
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 6
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 7
      Phenotypes 23
    • 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:317814 Fan L, et al., Lif Deficiency Leads to Iron Transportation Dysfunction in Ameloblasts. J Dent Res. 2022 Jan;101(1):63-72
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory