Gene: TIMP2

Basic information

Tag Content
Uniprot ID P16035; Q16121; Q93006; Q9UDF7;
Entrez ID 7077
Genbank protein ID AAH52605.1; AAD14025.1; AAB19474.1; CAA38400.1; AAA59581.1; AAH71586.1; AAC50729.1; AAA61186.1;
Genbank nucleotide ID NM_003255.4
Ensembl protein ID ENSP00000262768
Ensembl nucleotide ID ENSG00000035862
Gene name Metalloproteinase inhibitor 2
Gene symbol TIMP2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 21462296
Functional description Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19.
Sequence
MGAAARTLRL ALGLLLLATL LRPADACSCS PVHPQQAFCN ADVVIRAKAV SEKEVDSGND 60
IYGNPIKRIQ YEIKQIKMFK GPEKDIEFIY TAPSSAVCGV SLDVGGKKEY LIAGKAEGDG 120
KMHITLCDFI VPWDTLSTTQ KKSLNHRYQM GCECKITRCP MIPCYISSPD ECLWMDWVTE 180
KNINGHQAKF FACIKRSDGS CAWYRGAAPP KQEFLDIEDP

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTIMP2102178107A0A452G0J3Capra hircusPredictionMore>>
1:1 orthologTIMP27077P16035Homo sapiensPublicationMore>>
1:1 orthologTimp221858Q6PI17E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologTIMP2743167H2RHV1Pan troglodytesPredictionMore>>
1:1 orthologTIMP2396988C0JPM4Sus scrofaPredictionMore>>
1:1 orthologTimp229543P30121Rattus norvegicusPredictionMore>>
1:1 orthologtimp2aQ1RLX2Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TIMP2rs7502916A>CGenotyping21462296
TIMP2rs4789936C>TGenotyping21462296
TIMP2rs6501266C>TGenotyping21462296
TIMP2rs7211674A>CGenotyping21462296
TIMP2rs7212662T>GGenotyping21462296

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0002020 protease bindingIBA
GO:0002020 protease bindingIPI
GO:0005178 integrin bindingIEA
GO:0005515 protein bindingIPI
GO:0008191 metalloendopeptidase inhibitor activityIBA
GO:0008270 zinc ion bindingIDA
GO:0030414 peptidase inhibitor activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0007417 central nervous system developmentIEA
GO:0007568 agingIEA
GO:0008285 negative regulation of cell population proliferationIEA
GO:0009725 response to hormoneIBA
GO:0010033 response to organic substanceIBA
GO:0010951 negative regulation of endopeptidase activityIBA
GO:0022617 extracellular matrix disassemblyTAS
GO:0032487 regulation of Rap protein signal transductionIEA
GO:0034097 response to cytokineIBA
GO:0042493 response to drugIEA
GO:0043312 neutrophil degranulationTAS
GO:0043410 positive regulation of MAPK cascadeIEA
GO:0045666 positive regulation of neuron differentiationIEA
GO:0045762 positive regulation of adenylate cyclase activityIEA
GO:0045930 negative regulation of mitotic cell cycleIEA
GO:0046580 negative regulation of Ras protein signal transductionIEA
GO:0051045 negative regulation of membrane protein ectodomain proteolysisIBA
GO:1905049 negative regulation of metallopeptidase activityIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIBA
GO:0009986 cell surfaceIEA
GO:0030426 growth coneIEA
GO:0031012 extracellular matrixIBA
GO:0035580 specific granule lumenTAS
GO:0043025 neuronal cell bodyIEA
GO:0062023 collagen-containing extracellular matrixHDA
GO:1904724 tertiary granule lumenTAS
GO:1904813 ficolin-1-rich granule lumenTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1474228 Degradation of the extracellular matrixTAS
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1592389 Activation of Matrix MetalloproteinasesTAS
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168256 Immune SystemTAS
R-HSA-6798695 Neutrophil degranulationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0903 Direct protein sequencing
KW-1015 Disulfide bond
KW-0479 Metal-binding
KW-0481 Metalloenzyme inhibitor
KW-0483 Metalloprotease inhibitor
KW-0646 Protease inhibitor
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0862 Zinc

Interpro

InterPro ID InterPro Term
IPR001134 Netrin_domain
IPR001820 TIMP
IPR008993 TIMP-like_OB-fold
IPR015613 TIMP2
IPR027465 TIMP_C
IPR030490 TIMP_CS

PROSITE

PROSITE ID PROSITE Term
PS50189 NTR
PS00288 TIMP

Pfam

Pfam ID Pfam Term
PF00965 TIMP

Protein-protein interaction

Protein-miRNA interaction