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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral arteriovenous malformation Likely pathogenic rs1555985260 RCV000656328
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder Pathogenic rs137853298 RCV006253540
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy Pathogenic; Likely pathogenic rs137853300, rs1270675463 RCV004814890
RCV001074190
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sorsby fundus dystrophy Pathogenic rs137853298, rs137853299, rs137853300, rs137853301 RCV000013513
RCV000013514
RCV000013515
RCV000013516
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTERIOVENOUS MALFORMATIONS, CEREBRAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLITIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 26676407
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10989641, 15714128, 16803511, 18516293, 20849603, 22292754
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15688381, 15714128, 18516293
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11487270, 15688381
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26676407
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 15662588
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 14688019, 15029256, 17206475
★☆☆☆☆
Found in Text Mining only
Adult-Onset Vitelliform Macular Dystrophy Vitelliform Macular Dystrophy BEFREE 9152224
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 10854443, 11801512, 14597066, 15123717, 16259644, 20385819, 21613373, 22171703, 22618592, 23422939, 26493035, 27966779, 29514656, 30129971, 30288950
View all (5 more)
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration LHGDN 16259644
★☆☆☆☆
Found in Text Mining only