ENSG00000100985


Homo sapiens

Features
Gene ID: ENSG00000100985
  
Biological name :MMP9
  
Synonyms : matrix metallopeptidase 9 / MMP9 / P14780
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q13.12
Gene start: 46008908
Gene end: 46016561
  
Corresponding Affymetrix probe sets: 203936_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000361405
NCBI entrez gene - 4318     See in Manteia.
OMIM - 120361
RefSeq - NM_004994
RefSeq Peptide - NP_004985
swissprot - P14780
Ensembl - ENSG00000100985
  
Related genetic diseases (OMIM): 613073 - Metaphyseal anadysplasia 2, 613073
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
 mmp9ENSDARG00000042816Danio rerio
 MMP9ENSGALG00000006992Gallus gallus
 Mmp9ENSMUSG00000017737Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MMP2 / P08253 / matrix metallopeptidase 2ENSG0000008724545
MMP19 / Q99542 / matrix metallopeptidase 19ENSG0000012334222
MMP28 / Q9H239 / matrix metallopeptidase 28ENSG0000027144721
MMP21 / Q8N119 / matrix metallopeptidase 21ENSG0000015448518
MMP23B / O75900 / matrix metallopeptidase 23BENSG0000018940914
MMP26 / Q9NRE1 / matrix metallopeptidase 26ENSG0000016734612
Q96BH3 / ELSPBP1 / epididymal sperm binding protein 1ENSG0000016939310


Protein motifs (from Interpro)
Interpro ID Name
 IPR000562  Fibronectin type II domain
 IPR000585  Hemopexin-like domain
 IPR001818  Peptidase M10, metallopeptidase
 IPR002477  Peptidoglycan binding-like
 IPR006026  Peptidase, metallopeptidase
 IPR013806  Kringle-like fold
 IPR018486  Hemopexin, conserved site
 IPR018487  Hemopexin-like repeats
 IPR021158  Peptidase M10A, cysteine switch, zinc binding site
 IPR021190  Peptidase M10A
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR028688  Matrix metalloproteinase-9
 IPR033739  Peptidase M10A, catalytic domain
 IPR036365  PGBD-like superfamily
 IPR036366  PGBD superfamily
 IPR036375  Hemopexin-like domain superfamily
 IPR036943  Fibronectin type II domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0006508 proteolysis IDA
 biological_processGO:0007566 embryo implantation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0030198 extracellular matrix organization IEA
 biological_processGO:0030225 macrophage differentiation TAS
 biological_processGO:0030335 positive regulation of cell migration TAS
 biological_processGO:0030574 collagen catabolic process TAS
 biological_processGO:0034614 cellular response to reactive oxygen species IDA
 biological_processGO:0035987 endodermal cell differentiation IEP
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043388 positive regulation of DNA binding IDA
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway IMP
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0050900 leukocyte migration IEA
 biological_processGO:0051549 positive regulation of keratinocyte migration IMP
 biological_processGO:0071276 cellular response to cadmium ion IDA
 biological_processGO:0090200 positive regulation of release of cytochrome c from mitochondria IMP
 biological_processGO:1900122 positive regulation of receptor binding IDA
 biological_processGO:1904707 positive regulation of vascular smooth muscle cell proliferation IMP
 biological_processGO:2001243 negative regulation of intrinsic apoptotic signaling pathway IMP
 biological_processGO:2001258 negative regulation of cation channel activity IDA
 biological_processGO:2001268 negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IMP
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0004175 endopeptidase activity EXP
 molecular_functionGO:0004222 metalloendopeptidase activity TAS
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding TAS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IDA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Signaling by SCF-KIT
Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Assembly of collagen fibrils and other multimeric structures
EPH-ephrin mediated repulsion of cells
Interleukin-4 and Interleukin-13 signaling
Neutrophil degranulation


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:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
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 HP:0002814 Abnormality of the lower limbs "An abnormality of the legs." [HPO:curators]
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 HP:0002979 Bowing of the legs 
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 HP:0003016 Metaphyseal widening "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators]
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 HP:0003025 Irregular metaphyses 
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 HP:0004039 Abnormality of ulnar metaphysis 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0006487 Bowing of the long bones 
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 HP:0006501 Aplasia/Hypoplasia of the radius "A small/hypoplastic or absent/aplastic radius." [HPO:curators]
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 HP:0100864 Hypoplasia of the femoral neck 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000102265 TIMP1 / P01033 / TIMP metallopeptidase inhibitor 1  / complex / reaction
 ENSG00000026508 CD44 / P16070 / CD44 molecule (Indian blood group)  / complex / reaction
 ENSG00000196611 MMP1 / P03956 / matrix metallopeptidase 1  / reaction
 ENSG00000138829 FBN2 / P35556 / fibrillin 2  / reaction
 ENSG00000116962 NID1 / P14543 / nidogen 1  / reaction
 ENSG00000146197 Q8IX30 / SCUBE3 / signal peptide, CUB domain and EGF like domain containing 3  / reaction
 ENSG00000166147 FBN1 / P35555 / fibrillin 1  / reaction
 ENSG00000039068 CDH1 / P12830 / cadherin 1  / reaction
 ENSG00000049130 KITLG / P21583 / KIT ligand  / reaction
 ENSG00000275896 PRSS2 / P07478 / serine protease 2  / reaction






 

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