• Gene id: 7078

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 (32801704: 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 res
• 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: 24145
• Sequence:

  MTPWLGLIVLLGSWSLGDWGAEACTCSPSHPQDAFCNSDIVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFTK
  MPHVQYIHTEASESLCGLKLEVNKYQYLLTGRVYDGKMYTGLCNFVERWDQLTLSQRKGLNYRYHLGCNCKIKSC
  YYLPCFVTSKNECLWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSIINATDP

• Structural information:
  • Protein Domains: (24..14-)
    (/note="NTR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00295"-)
  • Interpro: IPR001134  IPR001820  IPR008993  IPR015612  IPR027465   IPR030490  
  • Prosite: PS50189 PS00288
  • PDB: 3CKI
  • PDBsum: 3CKI
  • STRING: ENSP00000266085
• Other Databases: GeneCards:  TIMP3  Malacards:  TIMP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0010033	response to organic substance	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0034097	response to cytokine	IBA	biological process
GO:0051045	negative regulation of membrane protein ectodomain proteolysis	IBA	biological process
GO:0002020	protease binding	IBA	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	IBA	molecular function
GO:0009725	response to hormone	IBA	biological process
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031089	platelet dense granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:1904684	negative regulation of metalloendopeptidase activity	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	TAS	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0051045	negative regulation of membrane protein ectodomain proteolysis	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:1903984	positive regulation of TRAIL-activated apoptotic signaling pathway	IMP	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:1904684	negative regulation of metalloendopeptidase activity	ISS	biological process
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Sorsby fundus dystrophy	KEGG:H00732
Sorsby fundus dystrophy	KEGG:H00732
Prostate cancer	PMID:15928670
urinary bladder cancer	PMID:18082200
Thoracic aortic aneurysm	PMID:16820601
Breast cancer	PMID:16256342
Preretinal fibrosis	PMID:11004090
Breast carcinoma	PMID:17032447
Breast carcinoma	PMID:18205041
choriocarcinoma	PMID:15507671
renal cell carcinoma	PMID:11576837
type 2 diabetes mellitus	PMID:19633828
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray