ENSG00000137674


Homo sapiens

Features
Gene ID: ENSG00000137674
  
Biological name :MMP20
  
Synonyms : matrix metallopeptidase 20 / MMP20 / O60882
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q22.2
Gene start: 102576835
Gene end: 102625332
  
Corresponding Affymetrix probe sets: 207599_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260228
NCBI entrez gene - 9313     See in Manteia.
OMIM - 604629
RefSeq - NM_004771
RefSeq Peptide - NP_004762
swissprot - O60882
Ensembl - ENSG00000137674
  
Related genetic diseases (OMIM): 612529 - Amelogenesis imperfecta, type IIA2, 612529
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mmp20aENSDARG00000089887Danio rerio
 Mmp20ENSMUSG00000018620Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MMP3 / P08254 / matrix metallopeptidase 3ENSG0000014996846
MMP10 / P09238 / matrix metallopeptidase 10ENSG0000016667045
MMP8 / P22894 / matrix metallopeptidase 8ENSG0000011811344
MMP13 / P45452 / matrix metallopeptidase 13ENSG0000013774544
MMP1 / P03956 / matrix metallopeptidase 1ENSG0000019661143
MMP12 / P39900 / matrix metallopeptidase 12ENSG0000026240642
MMP27 / Q9H306 / matrix metallopeptidase 27ENSG0000013767541
MMP24 / Q9Y5R2 / matrix metallopeptidase 24ENSG0000012596637
MMP15 / P51511 / matrix metallopeptidase 15ENSG0000010299636
MMP14 / P50281 / matrix metallopeptidase 14ENSG0000015722736
MMP16 / P51512 / matrix metallopeptidase 16ENSG0000015610335
MMP25 / Q9NPA2 / matrix metallopeptidase 25ENSG0000000851633
MMP17 / Q9ULZ9 / matrix metallopeptidase 17ENSG0000019859832
MMP11 / P24347 / matrix metallopeptidase 11ENSG0000009995332
MMP7 / P09237 / matrix metallopeptidase 7ENSG0000013767327


Protein motifs (from Interpro)
Interpro ID Name
 IPR000585  Hemopexin-like domain
 IPR001818  Peptidase M10, metallopeptidase
 IPR002477  Peptidoglycan binding-like
 IPR006026  Peptidase, metallopeptidase
 IPR018487  Hemopexin-like repeats
 IPR021158  Peptidase M10A, cysteine switch, zinc binding site
 IPR021190  Peptidase M10A
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR028716  Matrix metalloproteinase-20
 IPR033739  Peptidase M10A, catalytic domain
 IPR036365  PGBD-like superfamily
 IPR036375  Hemopexin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis TAS
 biological_processGO:0022617 extracellular matrix disassembly IEA
 biological_processGO:0030163 protein catabolic process IEA
 biological_processGO:0030574 collagen catabolic process TAS
 biological_processGO:0070173 regulation of enamel mineralization TAS
 biological_processGO:0097186 amelogenesis IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000705 Amelogenesis imperfecta 
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 HP:0200095 Anterior open bite 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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