Human Gene TIMP3 (ENST00000266085.7_4) from GENCODE V47lift37
  Description: TIMP metallopeptidase inhibitor 3 (from RefSeq NM_000362.5)
Gencode Transcript: ENST00000266085.7_4
Gencode Gene: ENSG00000100234.12_6
Transcript (Including UTRs)
   Position: hg19 chr22:33,197,691-33,259,028 Size: 61,338 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr22:33,197,988-33,255,364 Size: 57,377 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:33,197,691-33,259,028)mRNA (may differ from genome)Protein (211 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIMP3_HUMAN
DESCRIPTION: RecName: Full=Metalloproteinase inhibitor 3; AltName: Full=Protein MIG-5; AltName: Full=Tissue inhibitor of metalloproteinases 3; Short=TIMP-3; Flags: Precursor;
FUNCTION: Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.
SUBUNIT: Interacts with EFEMP1.
INTERACTION: P50052:AGTR2; NbExp=7; IntAct=EBI-1748085, EBI-1748067;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
DISEASE: Defects in TIMP3 are the cause of Sorsby fundus dystrophy (SFD) [MIM:136900]. SFD is a rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years.
SIMILARITY: Belongs to the protease inhibitor I35 (TIMP) family.
SIMILARITY: Contains 1 NTR domain.
WEB RESOURCE: Name=Mutations of the TIMP3 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/timpmut.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TIMP3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TIMP3
Diseases sorted by gene-association score: sorsby fundus dystrophy* (1615), pseudoinflammatory fundus dystrophy* (518), juvenile pilocytic astrocytoma (22), fundus dystrophy (15), partial central choroid dystrophy (14), sialadenitis (8), macular degeneration, age-related, 1 (7), pilocytic astrocytoma (7), uveal melanoma (7), hereditary choroidal atrophy (6), doyne honeycomb degeneration of retina (6), ependymoma (6), sialolithiasis (5), degeneration of macula and posterior pole (5), peripheral retinal degeneration (5), blue color blindness (5), breast cancer (3), medulloblastoma (2), emery-dreifuss muscular dystrophy (2), colorectal cancer (2), retinitis pigmentosa (1), prostate cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 646.28 RPKM in Adipose - Subcutaneous
Total median expression: 8364.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.20297-0.523 Picture PostScript Text
3' UTR -1122.703664-0.306 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001134 - Netrin_domain
IPR001820 - Prot_inh_TIMP
IPR008993 - TIMP-like_OB-fold
IPR015612 - Tissue_inhib_metalloprotease_3

Pfam Domains:
PF00965 - Tissue inhibitor of metalloproteinase

SCOP Domains:
50242 - TIMP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3CKI - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35625
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004857 enzyme inhibitor activity
GO:0005515 protein binding
GO:0008191 metalloendopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity
GO:0046872 metal ion binding

Biological Process:
GO:0002576 platelet degranulation
GO:0007601 visual perception
GO:0010033 response to organic substance
GO:0010466 negative regulation of peptidase activity
GO:0050896 response to stimulus
GO:0051045 negative regulation of membrane protein ectodomain proteolysis
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0071310 cellular response to organic substance
GO:1903984 positive regulation of TRAIL-activated apoptotic signaling pathway
GO:1904684 negative regulation of metalloendopeptidase activity

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0031012 extracellular matrix
GO:0031089 platelet dense granule lumen


-  Descriptions from all associated GenBank mRNAs
  LF212350 - JP 2014500723-A/19853: Polycomb-Associated Non-Coding RNAs.
LF208844 - JP 2014500723-A/16347: Polycomb-Associated Non-Coding RNAs.
LF213761 - JP 2014500723-A/21264: Polycomb-Associated Non-Coding RNAs.
AK311702 - Homo sapiens cDNA, FLJ18744.
AK314871 - Homo sapiens cDNA, FLJ95772, Homo sapiens tissue inhibitor of metalloproteinase 3 (Sorsby fundusdystrophy, pseudoinflammatory) (TIMP3), mRNA.
AK298126 - Homo sapiens cDNA FLJ51917 complete cds, highly similar to Metalloproteinase inhibitor 3 precursor.
BC013086 - Homo sapiens TIMP metallopeptidase inhibitor 3, mRNA (cDNA clone IMAGE:4154199), **** WARNING: chimeric clone ****.
U14394 - Human tissue inhibitor of metalloproteinases-3 mRNA, complete cds.
U02571 - Human tissue inhibitor of metalloproteinase-3 precursor (TIMP-3) mRNA, complete cds.
AX801509 - Sequence 12 from Patent EP1319669.
S78453 - TIMP-3=tissue inhibitor of metalloproteinases-3 [human, THP-1 cells, mRNA, 1284 nt].
U67195 - Human tissue inhibitor of metalloproteinase-3 mRNA, complete cds.
JD057781 - Sequence 38805 from Patent EP1572962.
JD201095 - Sequence 182119 from Patent EP1572962.
JD164676 - Sequence 145700 from Patent EP1572962.
JD150464 - Sequence 131488 from Patent EP1572962.
BC014277 - Homo sapiens TIMP metallopeptidase inhibitor 3, mRNA (cDNA clone MGC:11079 IMAGE:3689386), complete cds.
JD193161 - Sequence 174185 from Patent EP1572962.
X76227 - H.sapiens TIMP3 mRNA for tissue inhibitor of metalloproteinases-3.
CR456593 - Homo sapiens TIMP3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.TIMP3.V2).
JD167505 - Sequence 148529 from Patent EP1572962.
AB463312 - Synthetic construct DNA, clone: pF1KB4718, Homo sapiens TIMP3 gene for TIMP metallopeptidase inhibitor 3, without stop codon, in Flexi system.
CU013481 - Homo sapiens TIMP3, mRNA (cDNA clone IMAGE:100000450), complete cds, without stop codon, in Gateway system.
BT006848 - Homo sapiens tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) mRNA, complete cds.
DQ892581 - Synthetic construct clone IMAGE:100005211; FLH187743.01X; RZPDo839C08150D TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) (TIMP3) gene, encodes complete protein.
CU676955 - Synthetic construct Homo sapiens gateway clone IMAGE:100016773 5' read TIMP3 mRNA.
KJ892279 - Synthetic construct Homo sapiens clone ccsbBroadEn_01673 TIMP3 gene, encodes complete protein.
KR710299 - Synthetic construct Homo sapiens clone CCSBHm_00011130 TIMP3 (TIMP3) mRNA, encodes complete protein.
KR710300 - Synthetic construct Homo sapiens clone CCSBHm_00011131 TIMP3 (TIMP3) mRNA, encodes complete protein.
KR710301 - Synthetic construct Homo sapiens clone CCSBHm_00011132 TIMP3 (TIMP3) mRNA, encodes complete protein.
KR710302 - Synthetic construct Homo sapiens clone CCSBHm_00011134 TIMP3 (TIMP3) mRNA, encodes complete protein.
CU013193 - Homo sapiens TIMP3, mRNA (cDNA clone IMAGE:100000546), complete cds, with stop codon, in Gateway system.
DQ895798 - Synthetic construct Homo sapiens clone IMAGE:100010258; FLH187739.01L; RZPDo839C08149D TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) (TIMP3) gene, encodes complete protein.
L15078 - Homo sapiens metalloproteinase-3 tissue inhibitor (TIMP3) mRNA, 3' end.
LF323347 - JP 2014500723-A/130850: Polycomb-Associated Non-Coding RNAs.
LF323350 - JP 2014500723-A/130853: Polycomb-Associated Non-Coding RNAs.
LF323352 - JP 2014500723-A/130855: Polycomb-Associated Non-Coding RNAs.
LF323354 - JP 2014500723-A/130857: Polycomb-Associated Non-Coding RNAs.
D45917 - Homo sapiens mRNA for TIMP-3, partial cds (C-terminus region).
JD121876 - Sequence 102900 from Patent EP1572962.
JD528870 - Sequence 509894 from Patent EP1572962.
X80791 - H.sapiens K222TA2 mRNA.
LF323356 - JP 2014500723-A/130859: Polycomb-Associated Non-Coding RNAs.
JD398924 - Sequence 379948 from Patent EP1572962.
JD398925 - Sequence 379949 from Patent EP1572962.
JD093813 - Sequence 74837 from Patent EP1572962.
LF323358 - JP 2014500723-A/130861: Polycomb-Associated Non-Coding RNAs.
JD365765 - Sequence 346789 from Patent EP1572962.
JD554706 - Sequence 535730 from Patent EP1572962.
JD394115 - Sequence 375139 from Patent EP1572962.
LF323360 - JP 2014500723-A/130863: Polycomb-Associated Non-Coding RNAs.
JD288017 - Sequence 269041 from Patent EP1572962.
LF323361 - JP 2014500723-A/130864: Polycomb-Associated Non-Coding RNAs.
JD112585 - Sequence 93609 from Patent EP1572962.
JD490998 - Sequence 472022 from Patent EP1572962.
JD043981 - Sequence 25005 from Patent EP1572962.
JD496088 - Sequence 477112 from Patent EP1572962.
JD080009 - Sequence 61033 from Patent EP1572962.
JD256350 - Sequence 237374 from Patent EP1572962.
JD353777 - Sequence 334801 from Patent EP1572962.
LF323362 - JP 2014500723-A/130865: Polycomb-Associated Non-Coding RNAs.
JD365469 - Sequence 346493 from Patent EP1572962.
JD444893 - Sequence 425917 from Patent EP1572962.
JD487175 - Sequence 468199 from Patent EP1572962.
JD548655 - Sequence 529679 from Patent EP1572962.
JD115519 - Sequence 96543 from Patent EP1572962.
LF323363 - JP 2014500723-A/130866: Polycomb-Associated Non-Coding RNAs.
LF323364 - JP 2014500723-A/130867: Polycomb-Associated Non-Coding RNAs.
JD294643 - Sequence 275667 from Patent EP1572962.
JD544350 - Sequence 525374 from Patent EP1572962.
JD195383 - Sequence 176407 from Patent EP1572962.
JD331282 - Sequence 312306 from Patent EP1572962.
LF323365 - JP 2014500723-A/130868: Polycomb-Associated Non-Coding RNAs.
JD280798 - Sequence 261822 from Patent EP1572962.
JD482905 - Sequence 463929 from Patent EP1572962.
JD343092 - Sequence 324116 from Patent EP1572962.
JD051177 - Sequence 32201 from Patent EP1572962.
LF323366 - JP 2014500723-A/130869: Polycomb-Associated Non-Coding RNAs.
JD552505 - Sequence 533529 from Patent EP1572962.
AK098517 - Homo sapiens cDNA FLJ25651 fis, clone SYN01176.
JD498815 - Sequence 479839 from Patent EP1572962.
LF323367 - JP 2014500723-A/130870: Polycomb-Associated Non-Coding RNAs.
LF323368 - JP 2014500723-A/130871: Polycomb-Associated Non-Coding RNAs.
JD096969 - Sequence 77993 from Patent EP1572962.
JD056167 - Sequence 37191 from Patent EP1572962.
JD369195 - Sequence 350219 from Patent EP1572962.
JD454207 - Sequence 435231 from Patent EP1572962.
JD190249 - Sequence 171273 from Patent EP1572962.
LF323369 - JP 2014500723-A/130872: Polycomb-Associated Non-Coding RNAs.
JD470191 - Sequence 451215 from Patent EP1572962.
JD487144 - Sequence 468168 from Patent EP1572962.
JD132812 - Sequence 113836 from Patent EP1572962.
AF035289 - Homo sapiens clone 23969 mRNA sequence.
JD399932 - Sequence 380956 from Patent EP1572962.
LF323371 - JP 2014500723-A/130874: Polycomb-Associated Non-Coding RNAs.
JD445764 - Sequence 426788 from Patent EP1572962.
JD300652 - Sequence 281676 from Patent EP1572962.
LF323372 - JP 2014500723-A/130875: Polycomb-Associated Non-Coding RNAs.
LF323373 - JP 2014500723-A/130876: Polycomb-Associated Non-Coding RNAs.
JD254554 - Sequence 235578 from Patent EP1572962.
JD330334 - Sequence 311358 from Patent EP1572962.
JD323882 - Sequence 304906 from Patent EP1572962.
JD146407 - Sequence 127431 from Patent EP1572962.
JD131204 - Sequence 112228 from Patent EP1572962.
LF323374 - JP 2014500723-A/130877: Polycomb-Associated Non-Coding RNAs.
JD550038 - Sequence 531062 from Patent EP1572962.
LF323375 - JP 2014500723-A/130878: Polycomb-Associated Non-Coding RNAs.
JD426483 - Sequence 407507 from Patent EP1572962.
JD255333 - Sequence 236357 from Patent EP1572962.
JD518584 - Sequence 499608 from Patent EP1572962.
JD108645 - Sequence 89669 from Patent EP1572962.
JD209720 - Sequence 190744 from Patent EP1572962.
JD555574 - Sequence 536598 from Patent EP1572962.
JD432669 - Sequence 413693 from Patent EP1572962.
LF323376 - JP 2014500723-A/130879: Polycomb-Associated Non-Coding RNAs.
JD251612 - Sequence 232636 from Patent EP1572962.
JD299403 - Sequence 280427 from Patent EP1572962.
JD127090 - Sequence 108114 from Patent EP1572962.
JD547845 - Sequence 528869 from Patent EP1572962.
JD204649 - Sequence 185673 from Patent EP1572962.
LF323378 - JP 2014500723-A/130881: Polycomb-Associated Non-Coding RNAs.
JD485969 - Sequence 466993 from Patent EP1572962.
JD219285 - Sequence 200309 from Patent EP1572962.
JD273189 - Sequence 254213 from Patent EP1572962.
JD547451 - Sequence 528475 from Patent EP1572962.
JD555307 - Sequence 536331 from Patent EP1572962.
MA558924 - JP 2018138019-A/130850: Polycomb-Associated Non-Coding RNAs.
MA558927 - JP 2018138019-A/130853: Polycomb-Associated Non-Coding RNAs.
MA558929 - JP 2018138019-A/130855: Polycomb-Associated Non-Coding RNAs.
MA558931 - JP 2018138019-A/130857: Polycomb-Associated Non-Coding RNAs.
MA558933 - JP 2018138019-A/130859: Polycomb-Associated Non-Coding RNAs.
MA558935 - JP 2018138019-A/130861: Polycomb-Associated Non-Coding RNAs.
MA558937 - JP 2018138019-A/130863: Polycomb-Associated Non-Coding RNAs.
MA558938 - JP 2018138019-A/130864: Polycomb-Associated Non-Coding RNAs.
MA558939 - JP 2018138019-A/130865: Polycomb-Associated Non-Coding RNAs.
MA558940 - JP 2018138019-A/130866: Polycomb-Associated Non-Coding RNAs.
MA558941 - JP 2018138019-A/130867: Polycomb-Associated Non-Coding RNAs.
MA558942 - JP 2018138019-A/130868: Polycomb-Associated Non-Coding RNAs.
MA558943 - JP 2018138019-A/130869: Polycomb-Associated Non-Coding RNAs.
MA558944 - JP 2018138019-A/130870: Polycomb-Associated Non-Coding RNAs.
MA558945 - JP 2018138019-A/130871: Polycomb-Associated Non-Coding RNAs.
MA558946 - JP 2018138019-A/130872: Polycomb-Associated Non-Coding RNAs.
MA558948 - JP 2018138019-A/130874: Polycomb-Associated Non-Coding RNAs.
MA558949 - JP 2018138019-A/130875: Polycomb-Associated Non-Coding RNAs.
MA558950 - JP 2018138019-A/130876: Polycomb-Associated Non-Coding RNAs.
MA558951 - JP 2018138019-A/130877: Polycomb-Associated Non-Coding RNAs.
MA558952 - JP 2018138019-A/130878: Polycomb-Associated Non-Coding RNAs.
MA558953 - JP 2018138019-A/130879: Polycomb-Associated Non-Coding RNAs.
MA558955 - JP 2018138019-A/130881: Polycomb-Associated Non-Coding RNAs.
MA447927 - JP 2018138019-A/19853: Polycomb-Associated Non-Coding RNAs.
MA444421 - JP 2018138019-A/16347: Polycomb-Associated Non-Coding RNAs.
MA449338 - JP 2018138019-A/21264: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_reckPathway - Inhibition of Matrix Metalloproteinases
h_p53Pathway - p53 Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P35625 (Reactome details) participates in the following event(s):

R-HSA-481009 Exocytosis of platelet dense granule content
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B2RBY9, ENST00000266085.1, ENST00000266085.2, ENST00000266085.3, ENST00000266085.4, ENST00000266085.5, ENST00000266085.6, NM_000362, P35625, Q5THV4, Q9UC74, Q9UGS2, TIMP3_HUMAN, uc317igi.1, uc317igi.2
UCSC ID: ENST00000266085.7_4
RefSeq Accession: NM_000362.5
Protein: P35625 (aka TIMP3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.