ENSG00000123342


Homo sapiens

Features
Gene ID: ENSG00000123342
  
Biological name :MMP19
  
Synonyms : matrix metallopeptidase 19 / MMP19 / Q99542
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.2
Gene start: 55835433
Gene end: 55842966
  
Corresponding Affymetrix probe sets: 204574_s_at (Human Genome U133 Plus 2.0 Array)   204575_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000446979
Ensembl peptide - ENSP00000446776
Ensembl peptide - ENSP00000447363
Ensembl peptide - ENSP00000449752
Ensembl peptide - ENSP00000313437
Ensembl peptide - ENSP00000386625
NCBI entrez gene - 4327     See in Manteia.
OMIM - 601807
RefSeq - XM_017019309
RefSeq - NM_001272101
RefSeq - NM_002429
RefSeq - XM_006719401
RefSeq - XM_011538359
RefSeq - XM_017019308
RefSeq Peptide - NP_002420
RefSeq Peptide - NP_001259030
swissprot - B4DNP3
swissprot - F8W1C3
swissprot - Q99542
swissprot - A6ND33
Ensembl - ENSG00000123342
  
Related genetic diseases (OMIM): 611543 - Cavitary optic disc anomalies, 611543
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
 mmp19ENSDARG00000091557Danio rerio
 Mmp19ENSMUSG00000025355Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MMP28 / Q9H239 / matrix metallopeptidase 28ENSG0000027144734
MMP9 / P14780 / matrix metallopeptidase 9ENSG0000010098530
MMP2 / P08253 / matrix metallopeptidase 2ENSG0000008724530
MMP21 / Q8N119 / matrix metallopeptidase 21ENSG0000015448528
MMP23B / O75900 / matrix metallopeptidase 23BENSG0000018940921
MMP26 / Q9NRE1 / matrix metallopeptidase 26ENSG0000016734615
Q96BH3 / ELSPBP1 / epididymal sperm binding protein 1ENSG000001693934


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
 IPR021190  Peptidase M10A
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR028724  Matrix metalloproteinase-19
 IPR033739  Peptidase M10A, catalytic domain
 IPR036365  PGBD-like superfamily
 IPR036375  Hemopexin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001541 ovarian follicle development IEA
 biological_processGO:0001542 ovulation from ovarian follicle IEA
 biological_processGO:0001554 luteolysis IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0022617 extracellular matrix disassembly TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030574 collagen catabolic process IEA
 biological_processGO:0051591 response to cAMP IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0001123 Visual field defects 
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 HP:0007663 Decreased central vision 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000116962 NID1 / P14543 / nidogen 1  / reaction






 

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