Endometriosis Knowledgebase

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Gene id

7078

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TIMP3 Gene UCSC Ensembl

Aliases

HSMRK222, K222, K222TA2, SFD

Gene name

TIMP metallopeptidase inhibitor 3

Alternate names

metalloproteinase inhibitor 3, MIG-5 protein, TIMP-3, protein MIG-5, tissue inhibitor of metalloproteinases 3,

Gene location

22q12.3 (32800815: 32863040) Exons: 5 NC_000022.11

Gene summary(Entrez)

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 response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]

OMIM

188826

Protein Summary

Protein general information

P35625

Name: Metalloproteinase inhibitor 3 (Protein MIG 5) (Tissue inhibitor of metalloproteinases 3) (TIMP 3)

Length: 211 Mass: 24,145

Sequence

MTPWLGLIVLLGSWSLGDWGAEACTCSPSHPQDAFCNSDIVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFTK
MPHVQYIHTEASESLCGLKLEVNKYQYLLTGRVYDGKMYTGLCNFVERWDQLTLSQRKGLNYRYHLGCNCKIKSC
YYLPCFVTSKNECLWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSIINATDP

Structural information

Protein Domains	NTR. (24-143)
Interpro:	IPR001134 IPR001820 IPR008993 IPR015612 IPR027465 IPR030490
Prosite:	PS50189 PS00288
Pfam:	PF00965
PDB:	3CKI
PDBsum:	3CKI
STRING:	ENSP00000266085;

Other Databases

GeneCards: TIMP3; Malacards: TIMP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0007417	central nervous system de velopment	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007601	visual perception	IEA	biological_process
GO:0008191	metalloendopeptidase inhi bitor activity	TAS	molecular_function
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0010033	response to organic subst ance	IBA	biological_process
GO:0031089	platelet dense granule lu men	TAS	cellular_component
GO:0042246	tissue regeneration	IEA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IMP	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IMP	biological_process
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:1903984	positive regulation of TR AIL-activated apoptotic s ignaling pathway	IMP	biological_process
GO:1904684	negative regulation of me talloendopeptidase activi ty	ISS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0004857	enzyme inhibitor activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0007417	central nervous system de velopment	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0007601	visual perception	IEA	biological_process
GO:0008191	metalloendopeptidase inhi bitor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	TAS	molecular_function
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0009725	response to hormone	IEA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0010033	response to organic subst ance	IBA	biological_process
GO:0010466	negative regulation of pe ptidase activity	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0031089	platelet dense granule lu men	TAS	cellular_component
GO:0042246	tissue regeneration	IEA	biological_process
GO:0043200	response to amino acid	IEA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0045861	negative regulation of pr oteolysis	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050896	response to stimulus	IEA	biological_process
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IMP	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IMP	biological_process
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:1903984	positive regulation of TR AIL-activated apoptotic s ignaling pathway	IMP	biological_process
GO:1904684	negative regulation of me talloendopeptidase activi ty	ISS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0008191	metalloendopeptidase inhi bitor activity	TAS	molecular_function
GO:0010033	response to organic subst ance	IBA	biological_process
GO:0031089	platelet dense granule lu men	TAS	cellular_component
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IMP	biological_process
GO:1903984	positive regulation of TR AIL-activated apoptotic s ignaling pathway	IMP	biological_process
GO:1904684	negative regulation of me talloendopeptidase activi ty	ISS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component

KEGG pathways

hsa05206 MicroRNAs in cancer
hsa05205 Proteoglycans in cancer

Diseases

Associated diseases	References
Cancer	PMID: 17033924
Diabetes	PMID: 14632160
Diabetic retinopathy	PMID: 14632160
Endometriosis	PMID: 21111772
Gonad development	PMID: 15120973
Implantation failure	PMID: 19778485
Endometriosis	INFBASE21111772
Polycystic ovary syndrome (PCOS)	PMID: 14665701
Pulmonary fibrosis	PMID: 15223866
Recurrent miscarriage	PMID: 12468644
Schizophrenia	PMID: 11353449
Sorsby fundus dystrophy	KEGG: H00732
Unexplained infertility	PMID: 19778485

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21111772	Endometrio sis					PGE2 COX-2 MMP1 MMP2 MMP3 MMP7 MMP9 TIMP1 TIMP2 TIMP3 TIMP4	Show abstract