• Gene id: 7077

Gene Summary

• Gene Symbol: TIMP2   Gene   UCSC   Ensembl
• Aliases: CSC-21K, DDC8
• Gene name: TIMP metallopeptidase inhibitor 2
• Alternate names: metalloproteinase inhibitor 2, testicular secretory protein Li 57, tissue inhibitor of metalloproteinases 2,
• Gene location: 17q25.3 (78925389: 78852976)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role a
• OMIM: 188825

SNPs

rs9900972

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.78872532A>G
NC_000017.11   g.78872532A>T
NC_000017.10   g.76868614A>G
NC_000017.10   g.76868614A>T|SEQ=[A/G/T]|GENE=TIMP2

rs8080623

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.78926196G>A
NC_000017.10   g.76922278G>A|SEQ=[G/A]|GENE=TIMP2

Protein Summary

• Protein general information: P16035  
  • Name: Metalloproteinase inhibitor 2 (CSC 21K) (Tissue inhibitor of metalloproteinases 2) (TIMP 2)
  • Length: 220  
  • Mass: 24,399
• Sequence:

  MGAAARTLRLALGLLLLATLLRPADACSCSPVHPQQAFCNADVVIRAKAVSEKEVDSGNDIYGNPIKRIQYEIKQ
  IKMFKGPEKDIEFIYTAPSSAVCGVSLDVGGKKEYLIAGKAEGDGKMHITLCDFIVPWDTLSTTQKKSLNHRYQM
  GCECKITRCPMIPCYISSPDECLWMDWVTEKNINGHQAKFFACIKRSDGSCAWYRGAAPPKQEFLDIEDP

• Structural information:
  • Protein Domains: NTR. (27-152)
  • Interpro: IPR001134  IPR001820  IPR008993  IPR015613  IPR027465   IPR030490  
  • Prosite: PS50189 PS00288
  • PDB: 1BR9 1GXD 2TMP 4ILW
  • PDBsum: 1BR9 1GXD 2TMP 4ILW
  • STRING: ENSP00000262768
• Other Databases: GeneCards:  TIMP2  Malacards:  TIMP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	IBA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007417	central nervous system development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009725	response to hormone	IBA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0032487	regulation of Rap protein signal transduction	IEA	biological process
GO:0034097	response to cytokine	IBA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051045	negative regulation of membrane protein ectodomain proteolysis	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0002020	protease binding	IBA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007417	central nervous system development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	IEA	molecular function
GO:0008191	metalloendopeptidase inhibitor activity	TAS	molecular function
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009725	response to hormone	IBA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0030426	growth cone	IEA	cellular component
GO:0032487	regulation of Rap protein signal transduction	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0034097	response to cytokine	IBA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0045861	negative regulation of proteolysis	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051045	negative regulation of membrane protein ectodomain proteolysis	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0002020	protease binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0008191	metalloendopeptidase inhibitor activity	TAS	molecular function
GO:0009725	response to hormone	IBA	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0034097	response to cytokine	IBA	biological process
GO:0051045	negative regulation of membrane protein ectodomain proteolysis	IBA	biological process
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cancer	GAD: 17954022
Cancer (endometrial)	GAD: 19758569
Cancer (ovarian)	GAD: 18424416
Cancer (Squamous cell)	GAD: 18674955
Cancer (stomach)	GAD: 17236757
Cancer (breast)	GAD: 14604886
Cancer (head and neck)	GAD: 16275157
Cancer (oral)	GAD: 17342343
Abdominal aortic aneurysm	GAD: 15944607
Aortic aneurysm	GAD: 15944607
Brain aneurysm	GAD: 14605322
Cardiovascular disease	GAD: 17893005
Carotid artery diseases	GAD: 17901377
Intracranial aneurysm	GAD: 14605322
Atherosclerosis	GAD: 20485444
Atrial fibrillation	GAD: 20138860
Cleft defects	GAD: 20672350
Arthritis	GAD: 18301898
Periodontitis	GAD: 15691353
Crohn's disease	GAD: 17589947
Moyamoya disease	GAD: 20948207
Alzheimer's disease	GAD: 19141999
Chorioamnionitis	GAD: 20452482
Adenomyosis	INFBASE: 16468658
Endometriosis	INFBASE: 10849774
Peritoneal, ovarian and bowel endometriotic tissues	INFBASE: 15452706
Polycystic ovary syndrome (PCOS)	INFBASE: 21437624
Azoospermia	MIK: 12406369
Implantation failure	INFBASE: 23011643
Chronic obstructive pulmonary disease (COPD)	GAD: 11757622
Dupuytren's disease	GAD: 21732829
Uterine diseases	GAD: 18288718
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 9237247
Azoospermia	MIK: 12406369
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
12406369	Azoospermia				Male infertility	TIMP-1 TIMP-2
9237247	Assocaited with postmeiotic stages of spermatogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq