MMP12 (matrix metallopeptidase 12) - Rat Genome Database

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Gene: MMP12 (matrix metallopeptidase 12) Homo sapiens
Analyze
Symbol: MMP12
Name: matrix metallopeptidase 12
RGD ID: 1350336
HGNC Page HGNC:7158
Description: Enables several functions, including core promoter sequence-specific DNA binding activity; metal ion binding activity; and metalloendopeptidase activity. Involved in several processes, including elastin catabolic process; negative regulation of endothelial cell-matrix adhesion via fibronectin; and positive regulation of epithelial cell proliferation involved in wound healing. Located in cytoplasm; extracellular space; and nucleus. Implicated in Barrett's esophagus; artery disease (multiple); coronary aneurysm; esophagus adenocarcinoma; and multiple sclerosis. Biomarker of Marfan syndrome; clear cell renal cell carcinoma; and thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HME; macrophage elastase; macrophage metalloelastase; matrix metallopeptidase 12 (macrophage elastase); matrix metalloproteinase 12 (macrophage elastase); matrix metalloproteinase-12; ME; MGC138506; MME; MMP-12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC079097.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811102,862,736 - 102,874,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11102,862,736 - 102,874,982 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,733,467 - 102,745,712 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,238,674 - 102,250,922 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411102,238,685 - 102,250,889NCBI
Celera1199,895,056 - 99,907,358 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,661,485 - 98,673,788 (-)NCBIHuRef
CHM1_111102,616,439 - 102,628,740 (-)NCBICHM1_1
T2T-CHM13v2.011102,866,505 - 102,878,751 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
4-nitroquinoline N-oxide  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetohydroxamic acid  (EXP)
acrolein  (EXP)
afimoxifene  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aprepitant  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
barium sulfate  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
capsaicin  (ISO)
carbon atom  (EXP)
carbon nanotube  (ISO)
catechol  (ISO)
cefaloridine  (ISO)
ceric oxide  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (ISO)
cobalt atom  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cysteamine  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (EXP,ISO)
doxorubicin  (EXP,ISO)
elemental carbon  (EXP)
Erionite  (ISO)
ethanol  (ISO)
fenbuconazole  (EXP)
ferric oxide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
furan  (ISO)
genistein  (ISO)
glucose  (ISO)
graphite  (ISO)
indole-3-methanol  (ISO)
L-methionine  (ISO)
lidocaine  (ISO)
linuron  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP,ISO)
malathion  (EXP)
megestrol acetate  (ISO)
metacetamol  (ISO)
methotrexate  (EXP)
methylisothiazolinone  (EXP)
microcystin-LR  (ISO)
N-acetyl-L-cysteine  (ISO)
N-hydroxyacetimidic acid  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel sulfate  (ISO)
O-methyleugenol  (EXP)
octadecanoic acid  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorodecanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
PhIP  (ISO)
pioglitazone  (ISO)
prednisolone  (EXP)
progesterone  (ISO)
quartz  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
rottlerin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP)
sodium fluoride  (ISO)
sotorasib  (EXP)
succimer  (ISO)
T-2 toxin  (ISO)
tamoxifen  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Genetic Loci Modulate Macrophage Activity and Glomerular Damage in Experimental Glomerulonephritis. Behmoaras J, etal., J Am Soc Nephrol. 2010 May 20.
2. Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis. Bradbury PA, etal., Carcinogenesis. 2009 May;30(5):793-8. doi: 10.1093/carcin/bgp065. Epub 2009 Mar 25.
3. Matrix metalloproteinases and tissue inhibitors of metalloproteinases in coxsackievirus-induced myocarditis. Cheung C, etal., Cardiovasc Pathol. 2006 Mar-Apr;15(2):63-74.
4. Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion. Eriksson P, etal., Br J Surg. 2005 Nov;92(11):1372-6.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. 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.
7. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Ikonomidis JS, etal., Circulation. 2006 Jul 4;114(1 Suppl):I365-70.
8. Divergent effects of matrix metalloproteinases 3, 7, 9, and 12 on atherosclerotic plaque stability in mouse brachiocephalic arteries. Johnson JL, etal., Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15575-80. Epub 2005 Oct 12.
9. Allele-specific regulation of matrix metalloproteinase-12 gene activity is associated with coronary artery luminal dimensions in diabetic patients with manifest coronary artery disease. Jormsjo S, etal., Circ Res. 2000 May 12;86(9):998-1003.
10. Macrophage metalloelastase as a major factor for glomerular injury in anti-glomerular basement membrane nephritis. Kaneko Y, etal., J Immunol 2003 Mar 15;170(6):3377-85.
11. Genetic variation in the matrix metalloproteinase genes and diabetic nephropathy in type 1 diabetes. Kure M, etal., Mol Genet Metab. 2011 May;103(1):60-5. doi: 10.1016/j.ymgme.2011.01.001. Epub 2011 Jan 14.
12. Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease. Lamblin N, etal., J Am Coll Cardiol. 2002 Jul 3;40(1):43-8.
13. Association of MMP1, MMP3, MMP9, and MMP12 polymorphisms with risk and clinical course of multiple sclerosis in a Polish population. Mirowska-Guzel D, etal., J Neuroimmunol. 2009 Sep 29;214(1-2):113-7. doi: 10.1016/j.jneuroim.2009.06.014. Epub 2009 Jul 22.
14. Differences in matrix metalloproteinase-1 and matrix metalloproteinase-12 transcript levels among carotid atherosclerotic plaques with different histopathological characteristics. Morgan AR, etal., Stroke. 2004 Jun;35(6):1310-5. Epub 2004 Apr 8.
15. Aquaporin-11 knockout mice and polycystic kidney disease animals share a common mechanism of cyst formation. Okada S, etal., FASEB J. 2008 Oct;22(10):3672-84. doi: 10.1096/fj.08-111872. Epub 2008 Jul 7.
16. Role for macrophage metalloelastase in glomerular basement membrane damage associated with alport syndrome. Rao VH, etal., Am J Pathol. 2006 Jul;169(1):32-46.
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Spleen tyrosine kinase promotes acute neutrophil-mediated glomerular injury via activation of JNK and p38 MAPK in rat nephrotoxic serum nephritis. Ryan J, etal., Lab Invest. 2011 Dec;91(12):1727-38. doi: 10.1038/labinvest.2011.137. Epub 2011 Sep 5.
19. Up-regulation and coexpression of MIF and matrix metalloproteinases in human abdominal aortic aneurysms. Verschuren L, etal., Antioxid Redox Signal. 2005 Sep-Oct;7(9-10):1195-202.
20. Matrix metalloproteinase (MMP)-12 expression has a negative impact on sensorimotor function following intracerebral haemorrhage in mice. Wells JE, etal., Eur J Neurosci. 2005 Jan;21(1):187-96.
21. Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage. Zhang B, etal., Stroke. 2001 Sep;32(9):2198-202.
Additional References at PubMed
PMID:7782320   PMID:8226919   PMID:8921407   PMID:9115292   PMID:10187779   PMID:10419448   PMID:10737800   PMID:10801980   PMID:10859319   PMID:10930399   PMID:10949161   PMID:11053263  
PMID:11241738   PMID:11329013   PMID:11575928   PMID:11575929   PMID:11875051   PMID:12195704   PMID:12477932   PMID:12742660   PMID:12858542   PMID:15474460   PMID:15489334   PMID:15654955  
PMID:15709175   PMID:15723202   PMID:15781250   PMID:15802269   PMID:15944607   PMID:15983040   PMID:15987457   PMID:15989693   PMID:16166618   PMID:16311244   PMID:16359550   PMID:16481329  
PMID:16676616   PMID:16912171   PMID:17000679   PMID:17178858   PMID:17178873   PMID:17182940   PMID:17300109   PMID:17357518   PMID:17373931   PMID:17473191   PMID:17574772   PMID:17607721  
PMID:17706587   PMID:17727250   PMID:17997411   PMID:18001475   PMID:18001704   PMID:18006768   PMID:18052707   PMID:18091353   PMID:18155181   PMID:18259971   PMID:18308831   PMID:18324629  
PMID:18334288   PMID:18390828   PMID:18396640   PMID:18403602   PMID:18425585   PMID:18539597   PMID:18619044   PMID:18660381   PMID:18775985   PMID:18823978   PMID:19056482   PMID:19132754  
PMID:19159011   PMID:19258954   PMID:19293200   PMID:19420105   PMID:19562509   PMID:19578796   PMID:19590686   PMID:19643940   PMID:19664242   PMID:19731200   PMID:19789190   PMID:19794969  
PMID:19913121   PMID:19932771   PMID:19958990   PMID:20018959   PMID:20078883   PMID:20127415   PMID:20160424   PMID:20230842   PMID:20376807   PMID:20392358   PMID:20452482   PMID:20484597  
PMID:20485444   PMID:20546881   PMID:20587546   PMID:20595276   PMID:20628086   PMID:20655856   PMID:20673868   PMID:20736794   PMID:20827277   PMID:21048031   PMID:21410539   PMID:21606841  
PMID:21683576   PMID:21730350   PMID:21832049   PMID:21873635   PMID:21920892   PMID:21967233   PMID:22076168   PMID:22117411   PMID:22119538   PMID:22153340   PMID:22305682   PMID:22509390  
PMID:22528292   PMID:22832961   PMID:22863605   PMID:22907031   PMID:22936257   PMID:23075521   PMID:23271741   PMID:23343931   PMID:23357697   PMID:23383108   PMID:23575435   PMID:23642232  
PMID:23898086   PMID:23900981   PMID:24043512   PMID:24146820   PMID:24398311   PMID:24424266   PMID:24432723   PMID:24621683   PMID:24667918   PMID:24784232   PMID:24834994   PMID:24885469  
PMID:24914938   PMID:25006744   PMID:25078452   PMID:25340798   PMID:25435370   PMID:26040769   PMID:26120586   PMID:26608672   PMID:26887942   PMID:27329669   PMID:27345464   PMID:27377745  
PMID:27391467   PMID:27746079   PMID:27807143   PMID:27987113   PMID:28098914   PMID:28122331   PMID:28343758   PMID:28385529   PMID:28551623   PMID:28655442   PMID:28692348   PMID:28912710  
PMID:28958661   PMID:28990117   PMID:29033183   PMID:29101312   PMID:29317790   PMID:29390099   PMID:29429629   PMID:29458338   PMID:29906531   PMID:29925830   PMID:30021884   PMID:30658596  
PMID:30691826   PMID:30789935   PMID:31304819   PMID:31499120   PMID:31862687   PMID:32650441   PMID:32702535   PMID:33065600   PMID:33404658   PMID:33892690   PMID:33902302   PMID:33958583  
PMID:33961781   PMID:34319576   PMID:34384863   PMID:34459757   PMID:34812434   PMID:34857952   PMID:34894337   PMID:35313071   PMID:35442508   PMID:35576280   PMID:35733520   PMID:36208531  
PMID:37812024   PMID:38288346  


Genomics

Comparative Map Data
MMP12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811102,862,736 - 102,874,982 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11102,862,736 - 102,874,982 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,733,467 - 102,745,712 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,238,674 - 102,250,922 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411102,238,685 - 102,250,889NCBI
Celera1199,895,056 - 99,907,358 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,661,485 - 98,673,788 (-)NCBIHuRef
CHM1_111102,616,439 - 102,628,740 (-)NCBICHM1_1
T2T-CHM13v2.011102,866,505 - 102,878,751 (-)NCBIT2T-CHM13v2.0
Mmp12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3997,344,397 - 7,360,461 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl97,344,381 - 7,369,499 (+)EnsemblGRCm39 Ensembl
GRCm3897,344,397 - 7,360,461 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl97,344,381 - 7,369,499 (+)EnsemblGRCm38mm10GRCm38
MGSCv3797,347,374 - 7,360,461 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3697,347,406 - 7,360,461 (+)NCBIMGSCv36mm8
Celera94,747,651 - 4,760,738 (+)NCBICelera
Cytogenetic Map9A1NCBI
cM Map92.46NCBI
Mmp12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8812,866,652 - 12,876,554 (+)NCBIGRCr8
mRatBN7.284,581,785 - 4,591,687 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl84,581,785 - 4,599,611 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx88,541,507 - 8,551,408 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.086,839,275 - 6,849,176 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.084,841,439 - 4,851,341 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.085,594,717 - 5,616,494 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl85,606,592 - 5,616,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.085,610,392 - 5,620,294 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.484,249,938 - 4,259,675 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.184,249,937 - 4,259,675 (+)NCBI
Celera86,141,589 - 6,151,491 (+)NCBICelera
Cytogenetic Map8q11NCBI
Mmp12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554126,045,100 - 6,057,262 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554126,045,146 - 6,057,112 (-)NCBIChiLan1.0ChiLan1.0
MMP12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29103,662,554 - 103,674,969 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111104,750,772 - 104,763,148 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01197,809,644 - 97,822,063 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111101,294,469 - 101,306,762 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11101,294,475 - 101,306,762 (-)Ensemblpanpan1.1panPan2
MMP12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1528,918,626 - 28,933,404 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl528,918,594 - 28,933,309 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha528,867,153 - 28,881,802 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0528,944,813 - 28,984,612 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl528,969,618 - 28,984,462 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1529,004,848 - 29,019,524 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0528,884,303 - 28,898,943 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0529,059,239 - 29,073,925 (+)NCBIUU_Cfam_GSD_1.0
Mmp12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494786,418,317 - 86,430,234 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365515,106,285 - 5,117,843 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365515,107,567 - 5,117,843 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMP12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl933,473,093 - 33,483,679 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1933,473,625 - 33,483,630 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2937,421,192 - 37,431,173 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMP12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,243,061 - 94,261,035 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,243,875 - 94,259,591 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604331,622,735 - 31,635,226 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmp12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248786,035 - 17,445 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248786,017 - 17,368 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MMP12
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 copy number loss See cases [RCV000136574] Chr11:98357901..106059146 [GRCh38]
Chr11:98228629..105929873 [GRCh37]
Chr11:97733839..105435083 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 copy number gain See cases [RCV000136846] Chr11:101452984..104044105 [GRCh38]
Chr11:101323715..103914833 [GRCh37]
Chr11:100828925..103420043 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
GRCh37/hg19 11q22.2(chr11:102642841-102826187)x1 copy number loss See cases [RCV000448411] Chr11:102642841..102826187 [GRCh37]
Chr11:11q22.2
uncertain significance
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1 copy number loss See cases [RCV000511844] Chr11:98515900..104970876 [GRCh37]
Chr11:11q22.1-22.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1 copy number loss not provided [RCV000683366] Chr11:102578709..107230611 [GRCh37]
Chr11:11q22.2-22.3
likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11q22.2(chr11:102739319-102752211)x1 copy number loss not provided [RCV000737657] Chr11:102739319..102752211 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q22.2(chr11:102739319-102752710)x1 copy number loss not provided [RCV000737658] Chr11:102739319..102752710 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q22.2(chr11:102741968-102752211)x0 copy number loss not provided [RCV000737659] Chr11:102741968..102752211 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q22.2(chr11:102741968-102752262)x0 copy number loss not provided [RCV000737660] Chr11:102741968..102752262 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q22.2(chr11:102741968-102752710)x0 copy number loss not provided [RCV000737661] Chr11:102741968..102752710 [GRCh37]
Chr11:11q22.2
benign
NM_002426.6(MMP12):c.156A>C (p.Lys52Asn) single nucleotide variant Inborn genetic diseases [RCV003275227] Chr11:102873059 [GRCh38]
Chr11:102743789 [GRCh37]
Chr11:11q22.2
uncertain significance
GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3 copy number gain not provided [RCV002472738] Chr11:99059204..103281943 [GRCh37]
Chr11:11q22.1-22.3
uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
NC_000011.9:g.(?_101323686)_(103349981_?)del deletion Jeune thoracic dystrophy [RCV001942288]|not provided [RCV001942287] Chr11:101323686..103349981 [GRCh37]
Chr11:11q22.1-22.3
pathogenic|no classifications from unflagged records
NC_000011.9:g.(?_101374735)_(103349981_?)dup duplication not provided [RCV003122918] Chr11:101374735..103349981 [GRCh37]
Chr11:11q22.1-22.3
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1 copy number loss not provided [RCV002472602] Chr11:98770072..104602846 [GRCh37]
Chr11:11q22.1-22.3
likely pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 copy number loss not provided [RCV002472494] Chr11:101371503..109306519 [GRCh37]
Chr11:11q22.1-22.3
pathogenic
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_002426.6(MMP12):c.1093C>G (p.Pro365Ala) single nucleotide variant Inborn genetic diseases [RCV002981536] Chr11:102865888 [GRCh38]
Chr11:102736619 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.425G>A (p.Ser142Asn) single nucleotide variant Inborn genetic diseases [RCV002798684] Chr11:102871878 [GRCh38]
Chr11:102742608 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.1024A>G (p.Asn342Asp) single nucleotide variant Inborn genetic diseases [RCV002950602] Chr11:102866336 [GRCh38]
Chr11:102737067 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.437C>G (p.Pro146Arg) single nucleotide variant Inborn genetic diseases [RCV002830579] Chr11:102871866 [GRCh38]
Chr11:102742596 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.272G>A (p.Arg91Gln) single nucleotide variant Inborn genetic diseases [RCV002850265] Chr11:102872943 [GRCh38]
Chr11:102743673 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.404G>T (p.Arg135Leu) single nucleotide variant Inborn genetic diseases [RCV002809778] Chr11:102871899 [GRCh38]
Chr11:102742629 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.1264T>A (p.Phe422Ile) single nucleotide variant Inborn genetic diseases [RCV002655543] Chr11:102864194 [GRCh38]
Chr11:102734925 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.397G>T (p.Ala133Ser) single nucleotide variant Inborn genetic diseases [RCV003188469] Chr11:102871906 [GRCh38]
Chr11:102742636 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.49C>T (p.Leu17Phe) single nucleotide variant Inborn genetic diseases [RCV003191104] Chr11:102874889 [GRCh38]
Chr11:102745619 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.398C>A (p.Ala133Glu) single nucleotide variant Inborn genetic diseases [RCV003219545] Chr11:102871905 [GRCh38]
Chr11:102742635 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.83A>G (p.Asn28Ser) single nucleotide variant Inborn genetic diseases [RCV003188470] Chr11:102874855 [GRCh38]
Chr11:102745585 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002426.6(MMP12):c.897T>C (p.Phe299=) single nucleotide variant not provided [RCV003396043] Chr11:102867284 [GRCh38]
Chr11:102738015 [GRCh37]
Chr11:11q22.2
likely benign
NM_002426.6(MMP12):c.1233C>G (p.Asp411Glu) single nucleotide variant Inborn genetic diseases [RCV003370092] Chr11:102864225 [GRCh38]
Chr11:102734956 [GRCh37]
Chr11:11q22.2
uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25
pathogenic
GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3 copy number gain not provided [RCV003484850] Chr11:97147292..102979905 [GRCh37]
Chr11:11q21-22.3
uncertain significance
NM_002426.6(MMP12):c.687T>C (p.Ser229=) single nucleotide variant not provided [RCV003396044] Chr11:102868008 [GRCh38]
Chr11:102738739 [GRCh37]
Chr11:11q22.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:70
Count of miRNA genes:43
Interacting mature miRNAs:43
Transcripts:ENST00000326227, ENST00000532855
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
MMP12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,745,577 - 102,745,656UniSTSGRCh37
Build 3611102,250,787 - 102,250,866RGDNCBI36
Celera1199,907,171 - 99,907,250RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,673,601 - 98,673,680UniSTS
GeneMap99-GB4 RH Map11351.69UniSTS
MMP12_2636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,733,308 - 102,733,986UniSTSGRCh37
Build 3611102,238,518 - 102,239,196RGDNCBI36
Celera1199,894,900 - 99,895,578RGD
HuRef1198,661,329 - 98,662,007UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 138 11 2 11 81 18 1 7 2 10 11 14 3 1
Low 562 176 76 84 262 12 306 37 54 82 78 281 76 198 103
Below cutoff 738 936 572 130 320 66 1984 485 976 53 686 601 69 699 1210 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI343504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI352562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW172994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY856072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE440047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE813419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG206655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FP885831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L23808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000571244   ⟹   ENSP00000458585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,862,736 - 102,874,982 (-)Ensembl
RefSeq Acc Id: NM_002426   ⟹   NP_002417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,862,736 - 102,874,982 (-)NCBI
GRCh3711102,733,464 - 102,745,764 (-)ENTREZGENE
Build 3611102,238,674 - 102,250,922 (-)NCBI Archive
HuRef1198,661,485 - 98,673,788 (-)ENTREZGENE
CHM1_111102,616,435 - 102,628,740 (-)NCBI
T2T-CHM13v2.011102,866,505 - 102,878,751 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002417   ⟸   NM_002426
- Peptide Label: preproprotein
- UniProtKB: B7ZLF6 (UniProtKB/Swiss-Prot),   B2R9X8 (UniProtKB/Swiss-Prot),   Q2M1L9 (UniProtKB/Swiss-Prot),   P39900 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000458585   ⟸   ENST00000571244

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P39900-F1-model_v2 AlphaFold P39900 1-470 view protein structure

Promoters
RGD ID:7221929
Promoter ID:EPDNEW_H16710
Type:multiple initiation site
Name:MMP12_1
Description:matrix metallopeptidase 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,874,982 - 102,875,042EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7158 AgrOrtholog
COSMIC MMP12 COSMIC
Ensembl Genes ENSG00000262406 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000571244 ENTREZGENE
  ENST00000571244.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.110.10.10 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000262406 GTEx
HGNC ID HGNC:7158 ENTREZGENE
Human Proteome Map MMP12 Human Proteome Map
InterPro Hemopexin-like_dom UniProtKB/Swiss-Prot
  Hemopexin-like_dom_sf UniProtKB/Swiss-Prot
  Hemopexin-like_repeat UniProtKB/Swiss-Prot
  Hemopexin_CS UniProtKB/Swiss-Prot
  M10A_MMP UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Pept_M10_metallopeptidase UniProtKB/Swiss-Prot
  Pept_M10A UniProtKB/Swiss-Prot
  Pept_M10A_Zn_BS UniProtKB/Swiss-Prot
  Peptidase_Metallo UniProtKB/Swiss-Prot
  Peptidoglycan-bd-like UniProtKB/Swiss-Prot
  PGBD-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4321 UniProtKB/Swiss-Prot
NCBI Gene 4321 ENTREZGENE
OMIM 601046 OMIM
PANTHER MACROPHAGE METALLOELASTASE UniProtKB/Swiss-Prot
  MATRIX METALLOPROTEINASE UniProtKB/Swiss-Prot
Pfam Hemopexin UniProtKB/Swiss-Prot
  Peptidase_M10 UniProtKB/Swiss-Prot
  PG_binding_1 UniProtKB/Swiss-Prot
PharmGKB PA30870 PharmGKB
PIRSF Peptidase_M10A_matrix UniProtKB/Swiss-Prot
PRINTS MATRIXIN UniProtKB/Swiss-Prot
PROSITE CYSTEINE_SWITCH UniProtKB/Swiss-Prot
  HEMOPEXIN UniProtKB/Swiss-Prot
  HEMOPEXIN_2 UniProtKB/Swiss-Prot
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART SM00120 UniProtKB/Swiss-Prot
  ZnMc UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF47090 UniProtKB/Swiss-Prot
  SSF50923 UniProtKB/Swiss-Prot
UniProt B2R9X8 ENTREZGENE
  B7ZLF6 ENTREZGENE
  MMP12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2M1L9 ENTREZGENE
UniProt Secondary B2R9X8 UniProtKB/Swiss-Prot
  B7ZLF6 UniProtKB/Swiss-Prot
  Q2M1L9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-03 MMP12  matrix metallopeptidase 12  MMP12  matrix metallopeptidase 12 (macrophage elastase)  Symbol and/or name change 5135510 APPROVED