ENSG00000100234


Homo sapiens

Features
Gene ID: ENSG00000100234
  
Biological name :TIMP3
  
Synonyms : P35625 / TIMP3 / TIMP metallopeptidase inhibitor 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.3
Gene start: 32801701
Gene end: 32863043
  
Corresponding Affymetrix probe sets: 201147_s_at (Human Genome U133 Plus 2.0 Array)   201148_s_at (Human Genome U133 Plus 2.0 Array)   201149_s_at (Human Genome U133 Plus 2.0 Array)   201150_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266085
NCBI entrez gene - 7078     See in Manteia.
OMIM - 188826
RefSeq - NM_000362
RefSeq Peptide - NP_000353
swissprot - P35625
Ensembl - ENSG00000100234
  
Related genetic diseases (OMIM): 136900 - Sorsby fundus dystrophy, 136900
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
 TIMP3ENSGALG00000028627Gallus gallus
 Timp3ENSMUSG00000020044Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TIMP4 / Q99727 / TIMP metallopeptidase inhibitor 4ENSG0000015715046
TIMP2 / P16035 / TIMP metallopeptidase inhibitor 2ENSG0000003586244
TIMP1 / P01033 / TIMP metallopeptidase inhibitor 1ENSG0000010226525


Protein motifs (from Interpro)
Interpro ID Name
 IPR001134  Netrin domain
 IPR001820  Protease inhibitor I35 (TIMP)
 IPR008993  Tissue inhibitor of metalloproteinases-like, OB-fold
 IPR015612  Metalloproteinase inhibitor 3
 IPR027465  Proteinase inhibitor I35b (TIMP), C-terminal
 IPR030490  Tissue inhibitor of metalloproteinase, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0010033 response to organic substance IBA
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051045 negative regulation of membrane protein ectodomain proteolysis IMP
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:1903984 positive regulation of TRAIL-activated apoptotic signaling pathway IMP
 biological_processGO:1904684 negative regulation of metalloendopeptidase activity IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0031089 platelet dense granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0002020 protease binding IBA
 molecular_functionGO:0004857 enzyme inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008191 metalloendopeptidase inhibitor activity TAS
 molecular_functionGO:0030414 peptidase inhibitor activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation


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:0007754 Macular dystrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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