• Gene id: 9313

Gene Summary

• Gene Symbol: MMP20   Gene   UCSC   Ensembl
• Aliases: AI2A2, MMP-20
• Gene name: matrix metallopeptidase 20
• Alternate names: matrix metalloproteinase-20, enamel metalloproteinase, matrix metalloproteinase 20 (enamelysin),
• Gene location: 11q22.2 (102625331: 102576831)     Exons: 10     NC_000011.10
• Gene summary(Entrez): Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as art
• OMIM: 604629

Protein Summary

• Protein general information: O60882  
  • Name: Matrix metalloproteinase 20 (MMP 20) (EC 3.4.24. ) (Enamel metalloproteinase) (Enamelysin)
  • Length: 483  
  • Mass: 54387
  • Tissue specificity: Expressed specifically in the enamel organ.
• Sequence:

  MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAYLDKYYTNKEGHQIGEMVARGSNSMIRKIKEL
  QAFFGLQVTGKLDQTTMNVIKKPRCGVPDVANYRLFPGEPKWKKNTLTYRISKYTPSMSSVEVDKAVEMALQAWS
  SAVPLSFVRINSGEADIMISFENGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGFNLFTVAA
  HEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVFLGKPTLPHAPHHKPSIPDLCDSSS
  SFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPSTITSSFPQLMSNVDAAYEVAERGTAYFFKGPHYWITRGFQM
  QGPPRTIYDFGFPRHVQQIDAAVYLREPQKTLFFVGDEYYSYDERKRKMEKDYPKNTEEEFSGVNGQIDAAVELN
  GYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIGC

• Structural information:
  • Interpro: IPR000585  IPR036375  IPR018487  IPR033739  IPR024079   IPR028716  IPR001818  IPR021190  IPR021158  IPR006026  IPR002477  IPR036365  IPR036366  
  • Prosite: PS00546 PS51642 PS00142
  • CDD: cd00094 cd04278
  • PDB: 2JSD
  • PDBsum: 2JSD
  • STRING: ENSP00000260228
• Other Databases: GeneCards:  MMP20  Malacards:  MMP20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0097186	amelogenesis	IBA	biological process
GO:0030574	collagen catabolic process	IBA	biological process
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0097186	amelogenesis	IEA	biological process
GO:0030163	protein catabolic process	IEA	biological process
GO:0022617	extracellular matrix disassembly	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070173	regulation of enamel mineralization	TAS	biological process

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)