Gene Gene information from NCBI Gene database.
Entrez ID 7078
Gene name TIMP metallopeptidase inhibitor 3
Gene symbol TIMP3
Synonyms (NCBI Gene)
HSMRK222K222K222TA2SFD
Chromosome 22
Chromosome location 22q12.3
Summary This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in res
miRNA miRNA information provided by mirtarbase database.
1571
miRTarBase ID miRNA Experiments Reference
MIRT000954 hsa-miR-21-5p Luciferase reporter assay 18591254
MIRT000954 hsa-miR-21-5p Luciferase reporter assay 18591254
MIRT000954 hsa-miR-21-5p Luciferase reporter assay 18591254
MIRT000954 hsa-miR-21-5p Luciferase reporter assay 18591254
MIRT000954 hsa-miR-21-5p Western blot 18591254
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
DNMT1 Repression 22982189
ELF3 Activation 12407165
SP1 Activation 15468069
SP1 Unknown 20056610
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0005515 Function Protein binding IPI 18344519, 18638486
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005604 Component Basement membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188826 11822 ENSG00000100234
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35625
Protein name Metalloproteinase inhibitor 3 (Protein MIG-5) (Tissue inhibitor of metalloproteinases 3) (TIMP-3)
Protein function Mediates a variety of processes including matrix regulation and turnover, inflammation, and angiogenesis, through reversible inhibition of zinc protease superfamily enzymes, primarily matrix metalloproteinases (MMPs). Regulates extracellular mat
PDB 3CKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00965 TIMP 22 194 Tissue inhibitor of metalloproteinase Domain
Sequence
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Proteoglycans in cancer
MicroRNAs in cancer
  Platelet degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
149
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebral arteriovenous malformation Likely pathogenic rs1555985260 RCV000656328
Retinal disorder Pathogenic rs137853298 RCV006253540
Retinal dystrophy Pathogenic; Likely pathogenic rs137853300, rs1270675463 RCV004814890
RCV001074190
Sorsby fundus dystrophy Pathogenic rs137853298, rs137853299, rs137853300, rs137853301 RCV000013513
RCV000013514
RCV000013515
RCV000013516
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs542900432 RCV005926184
Fundus dystrophy, pseudoinflammatory, recessive form Benign; Uncertain significance; Likely benign rs9862, rs886057435, rs886057441, rs397690270, rs766674644, rs886057447, rs550747276, rs767627836, rs886057442, rs55686145, rs886057454, rs148722870 RCV000384049
RCV000305366
RCV000375303
RCV000369381
RCV000335755
RCV000278541
RCV000401022
RCV000263660
RCV000393172
RCV000292738
RCV000286627
RCV000316568
RCV000278466
RCV000334703
Hepatocellular carcinoma Benign; Likely benign rs372767593 RCV005922287
Sarcoma Benign; Likely benign rs372767593 RCV005922288
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 16803511, 18831746, 23527119, 35701814
Adenocarcinoma Of Esophagus Associate 18516293
Adenocarcinoma of Lung Associate 32744429, 33126605, 36494333
Adenoma Oxyphilic Associate 31773698
Agnosia Associate 25065733
Alzheimer Disease Associate 39385222
Amyotrophic Lateral Sclerosis Associate 36768220
Aortic Aneurysm Abdominal Associate 11877705
Aortic Aneurysm Familial Abdominal 1 Associate 11877705
Aortic Aneurysm Thoracic Associate 30770620