TIMP4 (TIMP metallopeptidase inhibitor 4) - Rat Genome Database

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Gene: TIMP4 (TIMP metallopeptidase inhibitor 4) Homo sapiens
Analyze
Symbol: TIMP4
Name: TIMP metallopeptidase inhibitor 4
RGD ID: 69155
HGNC Page HGNC:11823
Description: Predicted to enable metalloendopeptidase inhibitor activity and protease binding activity. Predicted to be involved in negative regulation of membrane protein ectodomain proteolysis; response to cytokine; and response to hormone. Predicted to act upstream of or within Notch signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. Implicated in nephroblastoma. Biomarker of ductal carcinoma in situ; female reproductive organ cancer (multiple); prostate carcinoma in situ; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: metalloproteinase inhibitor 4; TIMP-4; tissue inhibitor of metalloproteinase 4; tissue inhibitor of metalloproteinases 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38312,153,068 - 12,158,912 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,153,068 - 12,158,912 (-)EnsemblGRCh38hg38GRCh38
GRCh37312,194,568 - 12,200,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,169,568 - 12,175,647 (-)NCBINCBI36Build 36hg18NCBI36
Build 34312,169,569 - 12,175,647NCBI
Celera312,132,043 - 12,138,067 (-)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef312,128,374 - 12,134,601 (-)NCBIHuRef
CHM1_1312,144,898 - 12,151,125 (-)NCBICHM1_1
T2T-CHM13v2.0312,151,357 - 12,157,146 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
alpha-Zearalanol  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumarin  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fonofos  (EXP)
indometacin  (EXP)
isoprenaline  (EXP,ISO)
ketoconazole  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
monodansylcadaverine  (ISO)
nickel atom  (EXP)
nicotine  (EXP,ISO)
oxaliplatin  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP)
parathion  (EXP)
PCB138  (ISO)
pentane-2,3-dione  (ISO)
perfluorooctanoic acid  (ISO)
ramipril  (ISO)
resveratrol  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP,ISO)
temozolomide  (EXP)
terbufos  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Mechanism of matrix accumulation and glomerulosclerosis in spontaneously hypertensive rats. Camp TM, etal., J Hypertens 2003 Sep;21(9):1719-27.
2. Inhibition of adjuvant-induced arthritis by systemic tissue inhibitor of metalloproteinases 4 gene delivery. Celiker MY, etal., Arthritis Rheum. 2002 Dec;46(12):3361-8.
3. Inhibition of Wilms' tumor growth by intramuscular administration of tissue inhibitor of metalloproteinases-4 plasmid DNA. Celiker MY, etal., Oncogene. 2001 Jul 19;20(32):4337-43.
4. Remodeling of experimental arteriovenous fistula with increased matrix metalloproteinase expression in rats. Chan CY, etal., J Vasc Surg. 2007 Apr;45(4):804-11.
5. TIMP-4 is regulated by vascular injury in rats. Dollery CM, etal., Circ Res. 1999 Mar 19;84(5):498-504.
6. Differential spatial distribution and temporal regulation of tissue inhibitor of metalloproteinase mRNA expression during rat central nervous system development. Fager N and Jaworski DM, Mech Dev. 2000 Nov;98(1-2):105-9.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. mRNA expression of matrix metalloproteases and their inhibitors differs in subtypes of renal cell carcinomas. Hagemann T, etal., Eur J Cancer. 2001 Oct;37(15):1839-46.
9. Zhonghua wai ke za zhi [Chinese journal of surgery] Jiang X, etal., Zhonghua Wai Ke Za Zhi. 2000 Apr;38(4):291-3, 19.
10. Genetic kininogen deficiency contributes to aortic aneurysm formation but not to atherosclerosis. Kaschina E, etal., Physiol Genomics 2004 Sep 16;19(1):41-9. Epub 2004 Jul 06.
11. Coordinated peak expression of MMP-26 and TIMP-4 in preinvasive human prostate tumor. Lee S, etal., Cell Res. 2006 Sep;16(9):750-8.
12. MMP/TIMP expression in spontaneously hypertensive heart failure rats: the effect of ACE- and MMP-inhibition. Li H, etal., Cardiovasc Res. 2000 May;46(2):298-306.
13. Tissue inhibitor of metalloproteinases-4 is expressed in cervical cancer patients. Lizarraga F, etal., Anticancer Res. 2005 Jan-Feb;25(1B):623-7.
14. Temporal regulation of extracellular matrix components in transition from compensatory hypertrophy to decompensatory heart failure. Mujumdar VS and Tyagi SC, J Hypertens. 1999 Feb;17(2):261-70.
15. Endometrial TIMP-4 mRNA is high at midcycle and in hyperplasia, but down-regulated in malignant tumours. Coordinated expression with MMP-26. Pilka R, etal., Mol Hum Reprod. 2004 Sep;10(9):641-50. Epub 2004 Jul 23.
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. Expression of matrix metalloproteinase-26 and tissue inhibitors of metalloproteinase-3 and -4 in normal ovary and ovarian carcinoma. Ripley D, etal., Int J Gynecol Cancer. 2006 Sep-Oct;16(5):1794-800.
18. Imbalance between tissue inhibitor of metalloproteinase-4 and matrix metalloproteinases during acute myocardial ischemia-reperfusion injury. Schulze CJ, etal., Circulation. 2003 May 20;107(19):2487-92. Epub 2003 Apr 21.
19. Expression of matrix metalloproteinase-26 and tissue inhibitors of metalloproteinases TIMP-3 and -4 in benign endometrium and endometrial cancer. Tunuguntla R, etal., Gynecol Oncol. 2003 Jun;89(3):453-9.
20. Inhibition of tumor growth and metastasis of human breast cancer cells transfected with tissue inhibitor of metalloproteinase 4. Wang M, etal., Oncogene. 1997 Jun 12;14(23):2767-74.
21. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
22. Endometase/matrilysin-2 in human breast ductal carcinoma in situ and its inhibition by tissue inhibitors of metalloproteinases-2 and -4: a putative role in the initiation of breast cancer invasion. Zhao YG, etal., Cancer Res. 2004 Jan 15;64(2):590-8.
Additional References at PubMed
PMID:8939999   PMID:9182583   PMID:9693046   PMID:10198170   PMID:11178970   PMID:11948685   PMID:12087081   PMID:12374789   PMID:12466243   PMID:12475252   PMID:12477932   PMID:12969699  
PMID:15489334   PMID:15713681   PMID:16135528   PMID:16521002   PMID:16809379   PMID:18214300   PMID:18301898   PMID:18336787   PMID:18818748   PMID:19019335   PMID:19036126   PMID:19048177  
PMID:19190762   PMID:19376102   PMID:19527514   PMID:19700750   PMID:19734590   PMID:19913121   PMID:20140262   PMID:20219015   PMID:20351267   PMID:20484597   PMID:20587546   PMID:20628086  
PMID:20693981   PMID:21406447   PMID:21620625   PMID:21624734   PMID:21873635   PMID:22018271   PMID:23229788   PMID:24637197   PMID:24903383   PMID:25128867   PMID:25300296   PMID:25595263  
PMID:25971370   PMID:25986893   PMID:26291714   PMID:26539028   PMID:26618609   PMID:27029493   PMID:27746079   PMID:28028835   PMID:28431065   PMID:28516393   PMID:28770228   PMID:29863410  
PMID:30891826   PMID:31074490   PMID:31371266   PMID:31677819   PMID:33961781   PMID:34379046   PMID:34781885   PMID:37495273   PMID:38069250   PMID:38915119  


Genomics

Comparative Map Data
TIMP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38312,153,068 - 12,158,912 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,153,068 - 12,158,912 (-)EnsemblGRCh38hg38GRCh38
GRCh37312,194,568 - 12,200,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,169,568 - 12,175,647 (-)NCBINCBI36Build 36hg18NCBI36
Build 34312,169,569 - 12,175,647NCBI
Celera312,132,043 - 12,138,067 (-)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef312,128,374 - 12,134,601 (-)NCBIHuRef
CHM1_1312,144,898 - 12,151,125 (-)NCBICHM1_1
T2T-CHM13v2.0312,151,357 - 12,157,146 (-)NCBIT2T-CHM13v2.0
Timp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,221,405 - 115,229,166 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6115,218,853 - 115,229,166 (-)EnsemblGRCm39 Ensembl
GRCm386115,244,444 - 115,252,205 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,241,892 - 115,252,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv376115,195,634 - 115,201,867 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366115,211,438 - 115,217,467 (-)NCBIMGSCv36mm8
Celera6117,084,697 - 117,090,930 (-)NCBICelera
Cytogenetic Map6E3NCBI
cM Map653.29NCBI
Timp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84149,978,667 - 149,985,350 (-)NCBIGRCr8
mRatBN7.24148,306,021 - 148,312,558 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4148,304,490 - 148,312,558 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4154,531,322 - 154,537,832 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04150,314,411 - 150,320,921 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04148,938,223 - 148,944,733 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04147,156,948 - 147,163,467 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,156,948 - 147,163,467 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04210,445,694 - 210,452,213 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44151,375,072 - 151,381,591 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4137,199,851 - 137,206,370 (-)NCBICelera
Cytogenetic Map4q42NCBI
Timp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542914,685,031 - 14,693,211 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542914,689,016 - 14,693,211 (-)NCBIChiLan1.0ChiLan1.0
TIMP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2212,141,127 - 12,149,262 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1312,144,168 - 12,154,025 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0312,079,195 - 12,087,485 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1312,425,429 - 12,433,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl312,425,429 - 12,433,192 (-)Ensemblpanpan1.1panPan2
TIMP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1206,399,522 - 6,405,089 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl206,399,522 - 6,405,089 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha206,435,643 - 6,441,210 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0206,428,241 - 6,462,722 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl206,428,701 - 6,439,507 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1206,146,856 - 6,152,424 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0206,497,799 - 6,503,367 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0206,473,392 - 6,478,960 (+)NCBIUU_Cfam_GSD_1.0
Timp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494217,413,957 - 17,420,254 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366021,489,545 - 1,495,478 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366021,488,993 - 1,496,108 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIMP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,179,806 - 68,190,942 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,179,803 - 68,191,199 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21375,371,793 - 75,377,933 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TIMP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12248,134,133 - 48,140,870 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2248,134,637 - 48,140,600 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041118,360,254 - 118,370,994 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Timp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624956330,327 - 337,299 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624956331,275 - 341,561 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TIMP4
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003256.4(TIMP4):c.71C>T (p.Pro24Leu) single nucleotide variant not specified [RCV004295850] Chr3:12158770 [GRCh38]
Chr3:12200270 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003256.4(TIMP4):c.63G>A (p.Leu21=) single nucleotide variant not provided [RCV000880765] Chr3:12158778 [GRCh38]
Chr3:12200278 [GRCh37]
Chr3:3p25.2		 benign
NM_003256.4(TIMP4):c.402C>T (p.Ile134=) single nucleotide variant not provided [RCV000922202] Chr3:12154402 [GRCh38]
Chr3:12195902 [GRCh37]
Chr3:3p25.2		 likely benign
NM_003256.4(TIMP4):c.574G>A (p.Ala192Thr) single nucleotide variant not specified [RCV004294024] Chr3:12153616 [GRCh38]
Chr3:12195116 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1 copy number loss Schizophrenia [RCV001825255] Chr3:10970972..12295919 [GRCh37]
Chr3:3p25.3-25.2		 not provided
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1 copy number loss not provided [RCV001827612] Chr3:10922740..12456978 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_003256.4(TIMP4):c.664G>A (p.Val222Ile) single nucleotide variant not specified [RCV004219242] Chr3:12153526 [GRCh38]
Chr3:12195026 [GRCh37]
Chr3:3p25.2		 likely benign
NM_003256.4(TIMP4):c.52C>G (p.Leu18Val) single nucleotide variant not specified [RCV004175319] Chr3:12158789 [GRCh38]
Chr3:12200289 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.161G>A (p.Ser54Asn) single nucleotide variant not specified [RCV004129032] Chr3:12157461 [GRCh38]
Chr3:12198961 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.53T>C (p.Leu18Pro) single nucleotide variant not specified [RCV004108123] Chr3:12158788 [GRCh38]
Chr3:12200288 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.400A>G (p.Ile134Val) single nucleotide variant not specified [RCV004199779] Chr3:12154404 [GRCh38]
Chr3:12195904 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.125G>A (p.Cys42Tyr) single nucleotide variant not specified [RCV004173763] Chr3:12158716 [GRCh38]
Chr3:12200216 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.393C>G (p.Cys131Trp) single nucleotide variant not specified [RCV004122010] Chr3:12154411 [GRCh38]
Chr3:12195911 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.348G>C (p.Leu116Phe) single nucleotide variant not specified [RCV004125522] Chr3:12156824 [GRCh38]
Chr3:12198324 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.433A>G (p.Arg145Gly) single nucleotide variant not specified [RCV004256387] Chr3:12154371 [GRCh38]
Chr3:12195871 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.593T>C (p.Met198Thr) single nucleotide variant not specified [RCV004256305] Chr3:12153597 [GRCh38]
Chr3:12195097 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.383T>G (p.Ile128Ser) single nucleotide variant not specified [RCV004266537] Chr3:12154421 [GRCh38]
Chr3:12195921 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.122T>C (p.Ile41Thr) single nucleotide variant not specified [RCV004254641] Chr3:12158719 [GRCh38]
Chr3:12200219 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1 copy number loss See cases [RCV003329496] Chr3:10167260..12533766 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_003256.4(TIMP4):c.71C>A (p.Pro24Gln) single nucleotide variant not specified [RCV004345274] Chr3:12158770 [GRCh38]
Chr3:12200270 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.131C>T (p.Ser44Leu) single nucleotide variant not specified [RCV004339457] Chr3:12158710 [GRCh38]
Chr3:12200210 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.439A>G (p.Ser147Gly) single nucleotide variant not specified [RCV004365207] Chr3:12154365 [GRCh38]
Chr3:12195865 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004350275] Chr3:12158744 [GRCh38]
Chr3:12200244 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.403G>A (p.Glu135Lys) single nucleotide variant not specified [RCV004339672] Chr3:12154401 [GRCh38]
Chr3:12195901 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_003256.4(TIMP4):c.113A>G (p.Gln38Arg) single nucleotide variant not specified [RCV004469903] Chr3:12158728 [GRCh38]
Chr3:12200228 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.284C>T (p.Thr95Met) single nucleotide variant not specified [RCV004469904] Chr3:12156888 [GRCh38]
Chr3:12198388 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.491A>G (p.Tyr164Cys) single nucleotide variant not specified [RCV004469905] Chr3:12153699 [GRCh38]
Chr3:12195199 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.602T>C (p.Val201Ala) single nucleotide variant not specified [RCV004469906] Chr3:12153588 [GRCh38]
Chr3:12195088 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:312
Count of miRNA genes:263
Interacting mature miRNAs:289
Transcripts:ENST00000287814
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human

Markers in Region
SHGC-76712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,194,576 - 12,194,745UniSTSGRCh37
Build 36312,169,576 - 12,169,745RGDNCBI36
Celera312,132,051 - 12,132,220RGD
Cytogenetic Map3p25UniSTS
HuRef312,128,382 - 12,128,551UniSTS
TNG Radiation Hybrid Map37601.0UniSTS
GeneMap99-GB4 RH Map354.92UniSTS
TIMP4_1491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,194,504 - 12,195,201UniSTSGRCh37
Build 36312,169,504 - 12,170,201RGDNCBI36
Celera312,131,979 - 12,132,676RGD
HuRef312,128,310 - 12,129,007UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2414 2788 2236 4918 1694 2253 4 597 1416 438 2228 6719 5943 41 3711 830 1703 1545 172 1

Sequence


Ensembl Acc Id: ENST00000287814   ⟹   ENSP00000287814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,153,068 - 12,158,912 (-)Ensembl
RefSeq Acc Id: NM_003256   ⟹   NP_003247
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,153,068 - 12,158,912 (-)NCBI
GRCh37312,194,568 - 12,200,851 (-)ENTREZGENE
Build 36312,169,568 - 12,175,647 (-)NCBI Archive
HuRef312,128,374 - 12,134,601 (-)ENTREZGENE
CHM1_1312,144,898 - 12,151,125 (-)NCBI
T2T-CHM13v2.0312,151,357 - 12,157,146 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003247   ⟸   NM_003256
- Peptide Label: precursor
- UniProtKB: B2R7K6 (UniProtKB/Swiss-Prot),   Q99727 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000287814   ⟸   ENST00000287814
Protein Domains
NTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99727-F1-model_v2 AlphaFold Q99727 1-224 view protein structure

Promoters
RGD ID:6863600
Promoter ID:EPDNEW_H4965
Type:initiation region
Name:TIMP4_2
Description:TIMP metallopeptidase inhibitor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4966  EPDNEW_H4967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,158,912 - 12,158,972EPDNEW
RGD ID:6863602
Promoter ID:EPDNEW_H4966
Type:initiation region
Name:TIMP4_1
Description:TIMP metallopeptidase inhibitor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4965  EPDNEW_H4967  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,159,365 - 12,159,425EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11823 AgrOrtholog
COSMIC TIMP4 COSMIC
Ensembl Genes ENSG00000157150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287814 ENTREZGENE
  ENST00000287814.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.120 UniProtKB/Swiss-Prot
  3.90.370.10 UniProtKB/Swiss-Prot
GTEx ENSG00000157150 GTEx
HGNC ID HGNC:11823 ENTREZGENE
Human Proteome Map TIMP4 Human Proteome Map
InterPro Netrin_domain UniProtKB/Swiss-Prot
  TIMP UniProtKB/Swiss-Prot
  TIMP-like_OB-fold UniProtKB/Swiss-Prot
  TIMP_C UniProtKB/Swiss-Prot
  TIMP_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7079 UniProtKB/Swiss-Prot
NCBI Gene 7079 ENTREZGENE
OMIM 601915 OMIM
PANTHER PTHR11844 UniProtKB/Swiss-Prot
  PTHR11844:SF26 UniProtKB/Swiss-Prot
Pfam TIMP UniProtKB/Swiss-Prot
PharmGKB PA36529 PharmGKB
PROSITE NTR UniProtKB/Swiss-Prot
  TIMP UniProtKB/Swiss-Prot
SMART NTR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50242 UniProtKB/Swiss-Prot
UniProt B2R7K6 ENTREZGENE
  Q99727 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R7K6 UniProtKB/Swiss-Prot