MMP13 (matrix metallopeptidase 13) - Rat Genome Database

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Gene: MMP13 (matrix metallopeptidase 13) Homo sapiens
Analyze
Symbol: MMP13
Name: matrix metallopeptidase 13
RGD ID: 1343267
HGNC Page HGNC
Description: Enables collagen binding activity; metal ion binding activity; and metalloendopeptidase activity. Involved in bone morphogenesis; collagen catabolic process; and extracellular matrix disassembly. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. Implicated in anodontia; artery disease (multiple); osteoarthritis; ovarian carcinoma; and spondyloepimetaphyseal dysplasia, Missouri type. Biomarker of invasive ductal carcinoma; reproductive organ cancer (multiple); and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLG3; collagenase 3; MANDP1; matrix metallopeptidase 13 (collagenase 3); matrix metalloproteinase 13 (collagenase 3); MDST; MMP-13
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11102,942,995 - 102,955,732 (-)EnsemblGRCh38hg38GRCh38
GRCh3811102,942,995 - 102,955,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711102,813,724 - 102,826,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,318,934 - 102,331,672 (-)NCBINCBI36hg18NCBI36
Build 3411102,318,933 - 102,331,672NCBI
Celera1199,975,301 - 99,988,043 (-)NCBI
Cytogenetic Map11q22.2NCBI
HuRef1198,741,671 - 98,754,423 (-)NCBIHuRef
CHM1_111102,696,655 - 102,709,340 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(R)-lipoic acid  (EXP,ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP,ISO)
2-deoxy-D-glucose  (EXP)
3,4-dichloroaniline  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4-nitroquinoline N-oxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
afimoxifene  (ISO)
AICA ribonucleotide  (EXP)
aldehydo-D-glucosamine  (EXP,ISO)
all-trans-retinoic acid  (ISO)
aminoguanidine  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimycin A  (ISO)
apocynin  (EXP)
arachidonic acid  (EXP)
arsenous acid  (EXP,ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
berberine  (EXP)
beta-D-glucosamine  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bicalutamide  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (ISO)
BQ 123  (EXP)
cadmium atom  (EXP)
caffeine  (ISO)
calcitriol  (EXP)
candesartan  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chloramphenicol  (EXP)
chloroquine  (EXP,ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciprofloxacin  (EXP)
cisplatin  (ISO)
clindamycin  (EXP)
cobalt atom  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (EXP)
cycloheximide  (EXP,ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenziodolium  (EXP)
dieckol  (EXP)
dihydroxyacetone  (EXP)
diltiazem  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (ISO)
doxycycline  (EXP)
ebselen  (ISO)
elemental selenium  (EXP)
esculetin  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
Genipin  (ISO)
guanethidine  (ISO)
hyaluronic acid  (ISO)
ibuprofen  (ISO)
irigenin  (EXP)
iron(2+) sulfate (anhydrous)  (ISO)
isoflavones  (EXP)
isotretinoin  (EXP)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
L-proline betaine  (EXP)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP,ISO)
Malonoben  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
manumycin A  (EXP)
masoprocol  (EXP)
methylmercury chloride  (ISO)
microcystin-LR  (EXP)
minocycline  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nalidixic acid  (EXP)
naproxen  (ISO)
nickel atom  (ISO)
nicotine  (EXP)
nimodipine  (ISO)
norfloxacin  (EXP)
ofloxacin  (EXP)
ouabain  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
platycodin D  (EXP)
potassium dichromate  (ISO)
prinomastat  (EXP)
progesterone  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
rotenone  (EXP,ISO)
rottlerin  (ISO)
salubrinal  (ISO)
sarpogrelate  (ISO)
SB 203580  (EXP,ISO)
selenium atom  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sumatriptan  (ISO)
T-2 toxin  (EXP,ISO)
tetrachloromethane  (ISO)
tetracycline  (EXP)
thioacetamide  (ISO)
thymoquinone  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
tyrphostin AG 1478  (ISO)
valproic acid  (EXP)
verapamil  (ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc oxide  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. Antunes LS, etal., J Oral Sci. 2013;55(4):281-6.
2. Appleton CT, etal., Arthritis Rheum. 2007 Jun;56(6):1854-68.
3. Bo N, etal., Connect Tissue Res. 2012;53(6):513-20. doi: 10.3109/03008207.2012.700346. Epub 2012 Jul 20.
4. Bostrom PJ, etal., Int J Cancer. 2000 Nov 1;88(3):417-23.
5. Boyle DL, etal., J Pharmacol Exp Ther. 2014 Feb;348(2):271-80. doi: 10.1124/jpet.113.205955. Epub 2013 Nov 15.
6. Calabro A, etal., Digestion. 2004;70(2):127-38. Epub 2004 Sep 16.
7. de Aquino SG, etal., Arch Oral Biol. 2009 Jul;54(7):609-17. doi: 10.1016/j.archoralbio.2009.03.007. Epub 2009 Apr 24.
8. Deguchi JO, etal., Circulation. 2005 Oct 25;112(17):2708-15. Epub 2005 Oct 17.
9. GOA_HUMAN data from the GO Consortium
10. Han Z, etal., J Clin Invest. 2001 Jul;108(1):73-81.
11. Hantke B, etal., Biol Chem. 2003 Aug;384(8):1247-51.
12. Hironaka K, etal., Biochem Biophys Res Commun. 2000 Jan 7;267(1):290-5.
13. Jiang JC, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Dec;6(12):1280-5. doi: 10.3736/jcim200812114.
14. Johansson N, etal., Am J Pathol. 1999 Feb;154(2):469-80.
15. Kassiri Z, etal., Circ Res. 2005 Aug 19;97(4):380-90. Epub 2005 Jul 21.
16. Kieseier BC, etal., Brain. 1999 Aug;122 ( Pt 8):1579-87.
17. Kominsky SL, etal., Clin Exp Metastasis. 2008;25(8):865-70. Epub 2008 Aug 16.
18. Lausch E, etal., Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
19. Lecomte J, etal., Cell Mol Life Sci. 2011 Feb;68(4):677-86. doi: 10.1007/s00018-010-0476-6. Epub 2010 Aug 11.
20. Li H, etal., Cardiovasc Res. 2000 May;46(2):298-306.
21. Li J, etal., Exp Ther Med. 2019 Jul;18(1):99-104. doi: 10.3892/etm.2019.7554. Epub 2019 May 8.
22. Li Y, etal., Int J Gynecol Cancer. 2009 Jan-Feb;19(1):129-33.
23. Liang QQ, etal., J Pharmacol Sci. 2010;113(1):23-31.
24. Liang QQ, etal., Spine (Phila Pa 1976). 2011 Jan 1;36(1):E14-9. doi: 10.1097/BRS.0b013e3181d2dec2.
25. Manicourt DH, etal., Drugs R D. 2005;6(5):261-71.
26. Mariani TJ, etal., Mol Biol Cell. 1998 Jun;9(6):1411-24.
27. Moon SJ, etal., Osteoarthritis Cartilage. 2012 Nov;20(11):1426-38. doi: 10.1016/j.joca.2012.08.002. Epub 2012 Aug 10.
28. Morgia G, etal., Urol Res. 2005 Feb;33(1):44-50. Epub 2004 Oct 22.
29. Nagel S, etal., Brain Res. 2005 Sep 14;1056(1):43-50.
30. Narayan G, etal., Genes Chromosomes Cancer. 2007 Apr;46(4):373-84.
31. Neuhold LA, etal., J Clin Invest. 2001 Jan;107(1):35-44.
32. Nielsen BS, etal., Cancer Res. 2001 Oct 1;61(19):7091-100.
33. Nielsen BS, etal., PLoS ONE. 2008 Aug 13;3(8):e2959.
34. Ogata T, etal., J Vasc Surg. 2005 Jun;41(6):1036-42.
35. Ohyama T, etal., Liver Int. 2011 Apr;31(4):572-84. doi: 10.1111/j.1478-3231.2011.02475.x. Epub 2011 Feb 15.
36. OMIM Disease Annotation Pipeline
37. Peterson JT, etal., Cardiovasc Res. 2000 May;46(2):307-15.
38. Popov Y, etal., Am J Physiol Gastrointest Liver Physiol. 2010 Mar;298(3):G323-34. doi: 10.1152/ajpgi.00394.2009. Epub 2010 Jan 7.
39. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
40. RGD automated import pipeline for gene-chemical interactions
41. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
42. Selvamurugan N, etal., J Biol Chem. 1998 Apr 24;273(17):10647-57.
43. Shen J, etal., Arthritis Rheum. 2013 Dec;65(12):3107-19. doi: 10.1002/art.38122.
44. Tong W, etal., Am J Physiol Heart Circ Physiol. 2011 Nov;301(5):H2113-21. doi: 10.1152/ajpheart.00356.2011. Epub 2011 Aug 19.
45. Tromp G, etal., Ann Vasc Surg. 2004 Jul;18(4):414-20.
46. Vikman P, etal., J Neurosurg. 2006 Sep;105(3):438-44.
47. Volman TJ, etal., J Pathol. 2004 Aug;203(4):968-75.
48. Yan S, etal., Hepatobiliary Pancreat Dis Int. 2005 Nov;4(4):569-72.
49. Yoon S, etal., Matrix Biol. 2002 Oct;21(6):487-98.
50. Yu CQ, etal., Zhong Xi Yi Jie He Xue Bao. 2009 Jan;7(1):41-7.
51. Zhang B, etal., BMC Cancer. 2008 Mar 28;8:83.
52. Zhang P, etal., Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Feb;27(1):53-61.
Additional References at PubMed
PMID:7607691   PMID:8125298   PMID:8207000   PMID:8576151   PMID:8609233   PMID:8663255   PMID:8969305   PMID:9065415   PMID:9119388   PMID:9562863   PMID:10074939   PMID:10419448  
PMID:10514495   PMID:10788434   PMID:10930399   PMID:10947989   PMID:10949161   PMID:10986281   PMID:11032846   PMID:11108860   PMID:11883937   PMID:11903048   PMID:12009331   PMID:12009332  
PMID:12139441   PMID:12149192   PMID:12192005   PMID:12270924   PMID:12426321   PMID:12477932   PMID:12734180   PMID:12814616   PMID:12878172   PMID:14558091   PMID:15067375   PMID:15489334  
PMID:15551360   PMID:15640153   PMID:15654517   PMID:15693018   PMID:15763932   PMID:15947272   PMID:16024014   PMID:16144844   PMID:16167086   PMID:16331612   PMID:16356191   PMID:16398406  
PMID:16507124   PMID:16648633   PMID:16877349   PMID:16917496   PMID:16948116   PMID:16984617   PMID:17009260   PMID:17033924   PMID:17076612   PMID:17116693   PMID:17138534   PMID:17151781  
PMID:17196980   PMID:17208315   PMID:17300926   PMID:17311929   PMID:17373717   PMID:17373931   PMID:17395008   PMID:17495113   PMID:17607721   PMID:17623656   PMID:17626252   PMID:17697361  
PMID:17724016   PMID:17786186   PMID:17822788   PMID:17853491   PMID:17876296   PMID:17905570   PMID:18006768   PMID:18091353   PMID:18164633   PMID:18225566   PMID:18262231   PMID:18289056  
PMID:18289383   PMID:18308831   PMID:18366705   PMID:18487224   PMID:18528653   PMID:18593949   PMID:18753468   PMID:18755271   PMID:18971037   PMID:18976975   PMID:18985055   PMID:18987329  
PMID:19038372   PMID:19094243   PMID:19124506   PMID:19180518   PMID:19185056   PMID:19248099   PMID:19248107   PMID:19248116   PMID:19296842   PMID:19301259   PMID:19333684   PMID:19415460  
PMID:19422937   PMID:19442604   PMID:19453573   PMID:19494318   PMID:19551542   PMID:19561643   PMID:19562509   PMID:19564415   PMID:19779140   PMID:19784544   PMID:19787229   PMID:19821768  
PMID:19883500   PMID:19902888   PMID:19913121   PMID:19948051   PMID:20043086   PMID:20067416   PMID:20097749   PMID:20131257   PMID:20175118   PMID:20196777   PMID:20376807   PMID:20452482  
PMID:20463008   PMID:20484597   PMID:20485444   PMID:20506238   PMID:20573369   PMID:20587546   PMID:20615395   PMID:20628086   PMID:20634891   PMID:20667128   PMID:20672350   PMID:20673868  
PMID:20683000   PMID:20685652   PMID:20706991   PMID:20827277   PMID:20857147   PMID:20878060   PMID:20878116   PMID:20936527   PMID:20948207   PMID:21039987   PMID:21048031   PMID:21107991  
PMID:21142220   PMID:21187486   PMID:21191416   PMID:21205837   PMID:21211511   PMID:21278254   PMID:21339746   PMID:21344378   PMID:21344384   PMID:21437966   PMID:21508380   PMID:21539914  
PMID:21720458   PMID:21849805   PMID:21873635   PMID:21881840   PMID:21913037   PMID:21938739   PMID:21959927   PMID:22006368   PMID:22032644   PMID:22084953   PMID:22095691   PMID:22102411  
PMID:22128168   PMID:22153941   PMID:22158614   PMID:22273691   PMID:22327326   PMID:22488635   PMID:22505473   PMID:22573319   PMID:22590832   PMID:22610965   PMID:22710194   PMID:22710868  
PMID:22722466   PMID:22782903   PMID:22869368   PMID:22950625   PMID:22992737   PMID:23132541   PMID:23162804   PMID:23334990   PMID:23417678   PMID:23465389   PMID:23467939   PMID:23665089  
PMID:23732700   PMID:23762330   PMID:23847446   PMID:23898086   PMID:23913860   PMID:24008762   PMID:24023851   PMID:24180431   PMID:24360951   PMID:24398989   PMID:24563279   PMID:24599080  
PMID:24610617   PMID:24615104   PMID:24648384   PMID:24704999   PMID:24781753   PMID:24974940   PMID:25006778   PMID:25166220   PMID:25340798   PMID:25401159   PMID:25433723   PMID:25527274  
PMID:25562781   PMID:25607396   PMID:25609201   PMID:25726157   PMID:25742789   PMID:25749207   PMID:25772251   PMID:25835975   PMID:25846944   PMID:25856795   PMID:25863779   PMID:25880591  
PMID:25948792   PMID:25966777   PMID:25976617   PMID:26092928   PMID:26104765   PMID:26298724   PMID:26305372   PMID:26305549   PMID:26308852   PMID:26362844   PMID:26369384   PMID:26378022  
PMID:26395178   PMID:26447617   PMID:26474296   PMID:26526931   PMID:26583473   PMID:26635116   PMID:26892680   PMID:26934732   PMID:27043283   PMID:27058373   PMID:27084377   PMID:27130394  
PMID:27172796   PMID:27245877   PMID:27296149   PMID:27356690   PMID:27367673   PMID:27377745   PMID:27391467   PMID:27503909   PMID:27555113   PMID:27556690   PMID:27630193   PMID:27716617  
PMID:27751807   PMID:27886420   PMID:27932045   PMID:27956552   PMID:28085114   PMID:28128735   PMID:28158191   PMID:28238786   PMID:28418842   PMID:28419442   PMID:28447732   PMID:28512729  
PMID:28559201   PMID:28728848   PMID:28766880   PMID:28798419   PMID:28798935   PMID:28816390   PMID:28912710   PMID:29126436   PMID:29247272   PMID:29345283   PMID:29996935   PMID:30003735  
PMID:30031810   PMID:30191992   PMID:30439533   PMID:30575896   PMID:30635366   PMID:30695018   PMID:30710321   PMID:30759432   PMID:30889876   PMID:30941969   PMID:31074012   PMID:31081124  
PMID:31129674   PMID:31264811   PMID:31305294   PMID:31331201   PMID:31440816   PMID:31587013   PMID:31640085   PMID:31677173   PMID:31693113   PMID:31841200   PMID:32035950   PMID:32652878  
PMID:32767318   PMID:33031905   PMID:33526510   PMID:33572320   PMID:33604811   PMID:33677160   PMID:33892965   PMID:33961781   PMID:34014552   PMID:34050742   PMID:34145804   PMID:34171070  
PMID:34172768  


Genomics

Comparative Map Data
MMP13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11102,942,995 - 102,955,732 (-)EnsemblGRCh38hg38GRCh38
GRCh3811102,942,995 - 102,955,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711102,813,724 - 102,826,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,318,934 - 102,331,672 (-)NCBINCBI36hg18NCBI36
Build 3411102,318,933 - 102,331,672NCBI
Celera1199,975,301 - 99,988,043 (-)NCBI
Cytogenetic Map11q22.2NCBI
HuRef1198,741,671 - 98,754,423 (-)NCBIHuRef
CHM1_111102,696,655 - 102,709,340 (-)NCBICHM1_1
Mmp13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3997,272,514 - 7,283,333 (+)NCBIGRCm39mm39
GRCm39 Ensembl97,272,514 - 7,283,331 (+)Ensembl
GRCm3897,272,514 - 7,283,333 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl97,272,514 - 7,283,331 (+)EnsemblGRCm38mm10GRCm38
MGSCv3797,272,514 - 7,283,333 (+)NCBIGRCm37mm9NCBIm37
MGSCv3697,272,545 - 7,283,331 (+)NCBImm8
Celera94,675,357 - 4,686,177 (+)NCBICelera
Cytogenetic Map9A1NCBI
Mmp13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.284,497,960 - 4,508,239 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl84,497,960 - 4,508,239 (+)Ensembl
Rnor_6.085,522,739 - 5,533,018 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl85,522,739 - 5,533,018 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.085,527,980 - 5,538,259 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.484,158,887 - 4,169,166 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.184,158,913 - 4,169,165 (+)NCBI
Celera86,061,454 - 6,071,733 (+)NCBICelera
Cytogenetic Map8q11NCBI
Mmp13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554126,106,994 - 6,118,760 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554126,106,994 - 6,118,760 (-)NCBIChiLan1.0ChiLan1.0
MMP13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111101,374,960 - 101,387,702 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11101,377,001 - 101,387,679 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01197,890,811 - 97,902,778 (-)NCBIMhudiblu_PPA_v0panPan3
MMP13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1528,793,568 - 28,864,832 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl528,850,522 - 28,864,121 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha528,800,013 - 28,811,179 (+)NCBI
ROS_Cfam_1.0528,904,844 - 28,915,995 (+)NCBI
ROS_Cfam_1.0 Ensembl528,903,544 - 28,915,284 (+)Ensembl
UMICH_Zoey_3.1528,939,682 - 28,951,055 (+)NCBI
UNSW_CanFamBas_1.0528,819,585 - 28,830,954 (+)NCBI
UU_Cfam_GSD_1.0528,994,055 - 29,005,429 (+)NCBI
Mmp13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494786,490,310 - 86,496,608 (-)NCBI
SpeTri2.0NW_0049365515,040,084 - 5,050,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMP13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl933,549,003 - 33,568,076 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1933,549,003 - 33,616,700 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2937,492,665 - 37,504,574 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMP13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,322,473 - 94,370,665 (-)NCBIChlSab1.1chlSab2
ChlSab1.1194,322,473 - 94,370,665 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl194,322,979 - 94,334,747 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604331,533,765 - 31,547,392 (+)NCBIVero_WHO_p1.0
Mmp13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249182,228,688 - 2,239,852 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S3989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,813,835 - 102,813,947UniSTSGRCh37
Build 3611102,319,045 - 102,319,157RGDNCBI36
Celera1199,975,415 - 99,975,527RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,741,785 - 98,741,897UniSTS
GeneMap99-GB4 RH Map11353.65UniSTS
Whitehead-RH Map11469.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
GDB:632948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,814,721 - 102,815,053UniSTSGRCh37
Build 3611102,319,931 - 102,320,263RGDNCBI36
Celera1199,976,301 - 99,976,633RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,742,672 - 98,743,004UniSTS
GDB:632950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,813,973 - 102,814,104UniSTSGRCh37
Build 3611102,319,183 - 102,319,314RGDNCBI36
Celera1199,975,553 - 99,975,684RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,741,923 - 98,742,055UniSTS
PMC125702P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,826,395 - 102,826,608UniSTSGRCh37
Build 3611102,331,605 - 102,331,818RGDNCBI36
Celera1199,987,975 - 99,988,188RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,754,355 - 98,754,568UniSTS
PMC125702P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,827,341 - 102,827,642UniSTSGRCh37
Build 3611102,332,551 - 102,332,852RGDNCBI36
Celera1199,988,919 - 99,989,220RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,755,299 - 98,755,600UniSTS
PMC64850P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,826,133 - 102,826,367UniSTSGRCh37
Build 3611102,331,343 - 102,331,577RGDNCBI36
Celera1199,987,713 - 99,987,947RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,754,093 - 98,754,327UniSTS
STS-X75308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,814,827 - 102,814,966UniSTSGRCh37
Build 3611102,320,037 - 102,320,176RGDNCBI36
Celera1199,976,407 - 99,976,546RGD
Cytogenetic Map11q22.3UniSTS
HuRef1198,742,778 - 98,742,917UniSTS
GeneMap99-GB4 RH Map11351.9UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Bhsa-miR-27b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI20131257
MIR27Bhsa-miR-27b-3pMirecordsexternal_infoNANA20131257
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22782903
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA23425975
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA22782903
MIR143hsa-miR-143-3pMirtarbaseexternal_infoWestern blot;MicroarrayFunctional MTI21427707
MIR100hsa-miR-100-5pMirtarbaseexternal_infoMicroarray//qRT-PCR//Western blotFunctional MTI19396866
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22782903
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA23425975
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22782903
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)19948051

Predicted Target Of
Summary Value
Count of predictions:541
Count of miRNA genes:403
Interacting mature miRNAs:452
Transcripts:ENST00000260302, ENST00000340273
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.


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
High 1
Medium 6 7 5 1 8 2 19 3 13 14 31 48 6 1 7
Low 60 38 193 26 37 12 267 14 194 41 145 162 18 22 162
Below cutoff 595 407 364 151 381 61 1767 233 704 132 694 526 90 560 834

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK222748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY256444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY741163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA413743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260302   ⟹   ENSP00000260302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,942,995 - 102,955,732 (-)Ensembl
RefSeq Acc Id: ENST00000340273   ⟹   ENSP00000339672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,944,330 - 102,955,705 (-)Ensembl
RefSeq Acc Id: ENST00000615555   ⟹   ENSP00000482883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,944,143 - 102,955,705 (-)Ensembl
RefSeq Acc Id: NM_002427   ⟹   NP_002418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,942,995 - 102,955,732 (-)NCBI
GRCh3711102,813,721 - 102,826,463 (-)ENTREZGENE
GRCh3711102,813,721 - 102,826,463 (-)NCBI
Build 3611102,318,934 - 102,331,672 (-)NCBI Archive
HuRef1198,741,671 - 98,754,423 (-)ENTREZGENE
CHM1_111102,696,655 - 102,709,340 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002418   ⟸   NM_002427
- Peptide Label: preproprotein
- UniProtKB: P45452 (UniProtKB/Swiss-Prot),   Q53H33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000482883   ⟸   ENST00000615555
RefSeq Acc Id: ENSP00000260302   ⟸   ENST00000260302
RefSeq Acc Id: ENSP00000339672   ⟸   ENST00000340273
Protein Domains
ZnMc

Promoters
RGD ID:7221931
Promoter ID:EPDNEW_H16711
Type:multiple initiation site
Name:MMP13_1
Description:matrix metallopeptidase 13
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
GRCh3811102,955,732 - 102,955,792EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002427.4(MMP13):c.224T>C (p.Phe75Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia, Missouri type [RCV000010050] Chr11:102955390 [GRCh38]
Chr11:102826119 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.221T>C (p.Phe74Ser) single nucleotide variant Metaphyseal anadysplasia 1, autosomal dominant [RCV000010051] Chr11:102955393 [GRCh38]
Chr11:102826122 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.272T>C (p.Met91Thr) single nucleotide variant Metaphyseal anadysplasia 1, autosomal dominant [RCV000010052] Chr11:102955342 [GRCh38]
Chr11:102826071 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.694C>A (p.His232Asn) single nucleotide variant Metaphyseal chondrodysplasia, Spahr type [RCV000010053] Chr11:102952117 [GRCh38]
Chr11:102822846 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.663G>A (p.Ala221=) single nucleotide variant not provided [RCV000728399] Chr11:102952148 [GRCh38]
Chr11:102822877 [GRCh37]
Chr11:11q22.2
conflicting interpretations of pathogenicity|uncertain significance
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 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
NM_002427.3(MMP13):c.298G>A (p.Asp100Asn) single nucleotide variant Malignant melanoma [RCV000062118] Chr11:102955316 [GRCh38]
Chr11:102826045 [GRCh37]
Chr11:102331255 [NCBI36]
Chr11:11q22.2
not provided
NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?) deletion Metaphyseal chondrodysplasia, Spahr type [RCV000661952] Chr11:102944266..102944267 [GRCh38]
Chr11:102814995..102814996 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.772dup (p.Asp258fs) duplication not provided [RCV000385539] Chr11:102952038..102952039 [GRCh38]
Chr11:102822767..102822768 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.110A>G (p.Gln37Arg) single nucleotide variant not provided [RCV000173282] Chr11:102955596 [GRCh38]
Chr11:102826325 [GRCh37]
Chr11:11q22.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_002427.4(MMP13):c.703del (p.Asp235fs) deletion Spondyloepimetaphyseal dysplasia, Missouri type [RCV001332128] Chr11:102952108 [GRCh38]
Chr11:102822837 [GRCh37]
Chr11:11q22.2
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
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) single nucleotide variant Metaphyseal chondrodysplasia, Spahr type [RCV000162347]|not provided [RCV000303456] Chr11:102954174 [GRCh38]
Chr11:102824903 [GRCh37]
Chr11:11q22.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter) single nucleotide variant Metaphyseal chondrodysplasia, Spahr type [RCV000162348]|not provided [RCV001386014] Chr11:102955289 [GRCh38]
Chr11:102826018 [GRCh37]
Chr11:11q22.2
pathogenic|likely pathogenic|not provided
NM_002427.4(MMP13):c.438C>T (p.Ser146=) single nucleotide variant Metaphyseal anadysplasia [RCV001105674]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001105675]|not provided [RCV000177157] Chr11:102954531 [GRCh38]
Chr11:102825260 [GRCh37]
Chr11:11q22.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002427.4(MMP13):c.443T>A (p.Val148Glu) single nucleotide variant not provided [RCV000177158] Chr11:102954526 [GRCh38]
Chr11:102825255 [GRCh37]
Chr11:11q22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002427.4(MMP13):c.*264C>T single nucleotide variant Metaphyseal anadysplasia [RCV000300878]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000355637] Chr11:102944002 [GRCh38]
Chr11:102814731 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) single nucleotide variant Metaphyseal anadysplasia [RCV000338592]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000283522]|not provided [RCV000969270] Chr11:102948022 [GRCh38]
Chr11:102818751 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.*314T>C single nucleotide variant Metaphyseal anadysplasia [RCV000397360]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000304031]|not provided [RCV001590922] Chr11:102943952 [GRCh38]
Chr11:102814681 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.*426A>G single nucleotide variant Metaphyseal anadysplasia [RCV000347361]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000404570] Chr11:102943840 [GRCh38]
Chr11:102814569 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.799+7C>T single nucleotide variant Metaphyseal anadysplasia [RCV000322504]|Metaphyseal chondrodysplasia, Spahr type [RCV001196999]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000267459]|not provided [RCV000906599] Chr11:102952005 [GRCh38]
Chr11:102822734 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.799+8G>A single nucleotide variant Metaphyseal anadysplasia [RCV000380643]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000326021]|not provided [RCV001522014] Chr11:102952004 [GRCh38]
Chr11:102822733 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.*885A>G single nucleotide variant Metaphyseal anadysplasia [RCV000305964]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000360736] Chr11:102943381 [GRCh38]
Chr11:102814110 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.138C>T (p.Tyr46=) single nucleotide variant Metaphyseal anadysplasia [RCV000394257]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000349061] Chr11:102955476 [GRCh38]
Chr11:102826205 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.800-9C>T single nucleotide variant Metaphyseal anadysplasia [RCV000365430]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000270916]|not provided [RCV001512896] Chr11:102950236 [GRCh38]
Chr11:102820965 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.935A>G (p.His312Arg) single nucleotide variant Metaphyseal anadysplasia [RCV000273496]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000309844]|not provided [RCV001313898] Chr11:102949141 [GRCh38]
Chr11:102819870 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly) single nucleotide variant Metaphyseal anadysplasia [RCV000326758]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000290440]|not provided [RCV000956999] Chr11:102947933 [GRCh38]
Chr11:102818662 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.968C>T (p.Thr323Met) single nucleotide variant Metaphyseal anadysplasia [RCV000334477]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000394865]|not provided [RCV001502970] Chr11:102949108 [GRCh38]
Chr11:102819837 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.*160G>A single nucleotide variant Metaphyseal anadysplasia [RCV000260906]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000316149] Chr11:102944106 [GRCh38]
Chr11:102814835 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.951T>G (p.Asp317Glu) single nucleotide variant Metaphyseal anadysplasia [RCV000368048]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000313334] Chr11:102949125 [GRCh38]
Chr11:102819854 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.*275T>C single nucleotide variant Metaphyseal anadysplasia [RCV000397357]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000358694] Chr11:102943991 [GRCh38]
Chr11:102814720 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) single nucleotide variant Metaphyseal anadysplasia [RCV000370540]|Metaphyseal chondrodysplasia, Spahr type [RCV000988628]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000276220]|not provided [RCV001054763] Chr11:102944310 [GRCh38]
Chr11:102815039 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.*628A>G single nucleotide variant Metaphyseal anadysplasia [RCV000332656]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000296400] Chr11:102943638 [GRCh38]
Chr11:102814367 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.686G>T (p.Gly229Val) single nucleotide variant Metaphyseal anadysplasia [RCV000373260]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000337269] Chr11:102952125 [GRCh38]
Chr11:102822854 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) single nucleotide variant Metaphyseal anadysplasia [RCV000278733]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000352370]|not provided [RCV001548674] Chr11:102954460 [GRCh38]
Chr11:102825189 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.997C>T (p.Arg333Cys) single nucleotide variant Metaphyseal anadysplasia [RCV000298241]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000406390] Chr11:102949079 [GRCh38]
Chr11:102819808 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly) single nucleotide variant Metaphyseal anadysplasia [RCV000406196]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000342010] Chr11:102948020 [GRCh38]
Chr11:102818749 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.770A>T (p.Asp257Val) single nucleotide variant Metaphyseal anadysplasia [RCV000377094]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000282643]|not provided [RCV001582933] Chr11:102952041 [GRCh38]
Chr11:102822770 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.287_293del (p.Cys96fs) deletion not provided [RCV000373339] Chr11:102955321..102955327 [GRCh38]
Chr11:102826050..102826056 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.884G>A (p.Ser295Asn) single nucleotide variant not provided [RCV000305373] Chr11:102950143 [GRCh38]
Chr11:102820872 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1062T>G (p.Phe354Leu) single nucleotide variant not provided [RCV000271065] Chr11:102948040 [GRCh38]
Chr11:102818769 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*771T>G single nucleotide variant Metaphyseal anadysplasia [RCV000262290]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000357112] Chr11:102943495 [GRCh38]
Chr11:102814224 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.52C>T (p.Arg18Trp) single nucleotide variant Metaphyseal anadysplasia [RCV000362352]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000307701]|not provided [RCV000906330] Chr11:102955654 [GRCh38]
Chr11:102826383 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.1315+15T>C single nucleotide variant Metaphyseal anadysplasia [RCV000331254]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000385712] Chr11:102945631 [GRCh38]
Chr11:102816360 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.*997dup duplication Metaphyseal anadysplasia [RCV000364412]|Spondyloepimetaphyseal dysplasia [RCV000390277]|not provided [RCV001683218] Chr11:102943268..102943269 [GRCh38]
Chr11:102813997..102813998 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1335C>T (p.Asn445=) single nucleotide variant not specified [RCV000356565] Chr11:102944347 [GRCh38]
Chr11:102815076 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.301G>T (p.Val101Leu) single nucleotide variant Metaphyseal anadysplasia [RCV000402601]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000312854]|not provided [RCV001322935] Chr11:102955313 [GRCh38]
Chr11:102826042 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.*1219A>C single nucleotide variant Metaphyseal anadysplasia [RCV000334378]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000403031] Chr11:102943047 [GRCh38]
Chr11:102813776 [GRCh37]
Chr11:11q22.2
benign|likely benign|uncertain significance
NM_002427.4(MMP13):c.*849dup duplication Metaphyseal anadysplasia [RCV000321253]|Spondyloepimetaphyseal dysplasia [RCV000266222] Chr11:102943416..102943417 [GRCh38]
Chr11:102814145..102814146 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1251G>A (p.Pro417=) single nucleotide variant not provided [RCV000265469] Chr11:102945710 [GRCh38]
Chr11:102816439 [GRCh37]
Chr11:11q22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002427.4(MMP13):c.*436G>C single nucleotide variant Metaphyseal anadysplasia [RCV000387291]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000292992] Chr11:102943830 [GRCh38]
Chr11:102814559 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*756A>G single nucleotide variant Metaphyseal anadysplasia [RCV000372044]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000317360] Chr11:102943510 [GRCh38]
Chr11:102814239 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe) single nucleotide variant Metaphyseal anadysplasia [RCV000381273]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000286939] Chr11:102947979 [GRCh38]
Chr11:102818708 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*1007T>C single nucleotide variant Metaphyseal anadysplasia [RCV000398225]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000309614] Chr11:102943259 [GRCh38]
Chr11:102813988 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*374_*376dup duplication Metaphyseal anadysplasia [RCV000288782]|Spondyloepimetaphyseal dysplasia [RCV000343744] Chr11:102943889..102943890 [GRCh38]
Chr11:102814618..102814619 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*1102T>C single nucleotide variant Metaphyseal anadysplasia [RCV000349456]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV000313259] Chr11:102943164 [GRCh38]
Chr11:102813893 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.710_712del (p.Gly237del) deletion not provided [RCV000598574] Chr11:102952099..102952101 [GRCh38]
Chr11:102822828..102822830 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.788A>G (p.Gln263Arg) single nucleotide variant not provided [RCV000416247] Chr11:102952023 [GRCh38]
Chr11:102822752 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1052-2A>C single nucleotide variant not provided [RCV000414263] Chr11:102948052 [GRCh38]
Chr11:102818781 [GRCh37]
Chr11:11q22.2
pathogenic|likely 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
NM_002427.4(MMP13):c.363-186C>T single nucleotide variant not provided [RCV001571390] Chr11:102954792 [GRCh38]
Chr11:102825521 [GRCh37]
Chr11:11q22.2
likely benign
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
NM_002427.4(MMP13):c.637+59A>G single nucleotide variant not provided [RCV001681954] Chr11:102954097 [GRCh38]
Chr11:102824826 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1212-185G>A single nucleotide variant not provided [RCV001611196] Chr11:102945934 [GRCh38]
Chr11:102816663 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.512-81A>C single nucleotide variant not provided [RCV001692631] Chr11:102954362 [GRCh38]
Chr11:102825091 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1211+186CA[20] microsatellite not provided [RCV001691704] Chr11:102947667..102947668 [GRCh38]
Chr11:102818396..102818397 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.799+260A>T single nucleotide variant not provided [RCV001586435] Chr11:102951752 [GRCh38]
Chr11:102822481 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1211+299_1211+300insACTT insertion not provided [RCV001547597] Chr11:102947591..102947592 [GRCh38]
Chr11:102818320..102818321 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.918-81G>C single nucleotide variant not provided [RCV001669247] Chr11:102949239 [GRCh38]
Chr11:102819968 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.212T>C (p.Met71Thr) single nucleotide variant Spondyloepimetaphyseal dysplasia, Missouri type [RCV000757993] Chr11:102955402 [GRCh38]
Chr11:102826131 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.1051+242T>C single nucleotide variant not provided [RCV001569931] Chr11:102948783 [GRCh38]
Chr11:102819512 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1211+186CA[23] microsatellite not provided [RCV001709120] Chr11:102947667..102947668 [GRCh38]
Chr11:102818396..102818397 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.678C>T (p.His226=) single nucleotide variant not provided [RCV000926745] Chr11:102952133 [GRCh38]
Chr11:102822862 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1372del (p.Arg458fs) deletion MMP13-Related Disorders [RCV000778296] Chr11:102944310 [GRCh38]
Chr11:102815039 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1064G>A (p.Trp355Ter) single nucleotide variant MMP13-Related Disorders [RCV000778297] Chr11:102948038 [GRCh38]
Chr11:102818767 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.996C>T (p.Asn332=) single nucleotide variant not provided [RCV000982673] Chr11:102949080 [GRCh38]
Chr11:102819809 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.818C>G (p.Pro273Arg) single nucleotide variant Metaphyseal anadysplasia [RCV001106715]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106716] Chr11:102950209 [GRCh38]
Chr11:102820938 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*954G>C single nucleotide variant Metaphyseal anadysplasia [RCV001108692]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108693] Chr11:102943312 [GRCh38]
Chr11:102814041 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1211+186CA[21] microsatellite not provided [RCV001635829] Chr11:102947667..102947668 [GRCh38]
Chr11:102818396..102818397 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.917+34C>T single nucleotide variant not provided [RCV001555057] Chr11:102950076 [GRCh38]
Chr11:102820805 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1211+186CA[22] microsatellite not provided [RCV001684812] Chr11:102947667..102947668 [GRCh38]
Chr11:102818396..102818397 [GRCh37]
Chr11:11q22.2
benign
Single allele deletion not provided [RCV001556044] Chr11:102955859 [GRCh38]
Chr11:102826588 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1051+299T>C single nucleotide variant not provided [RCV001685078] Chr11:102948726 [GRCh38]
Chr11:102819455 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1316-163A>G single nucleotide variant not provided [RCV001551424] Chr11:102944529 [GRCh38]
Chr11:102815258 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.363-300A>G single nucleotide variant not provided [RCV001683988] Chr11:102954906 [GRCh38]
Chr11:102825635 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.*1052T>C single nucleotide variant Metaphyseal anadysplasia [RCV001106508]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106507] Chr11:102943214 [GRCh38]
Chr11:102813943 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*723A>T single nucleotide variant Metaphyseal anadysplasia [RCV001103533]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001103532] Chr11:102943543 [GRCh38]
Chr11:102814272 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.472G>A (p.Asp158Asn) single nucleotide variant Metaphyseal anadysplasia [RCV001103726]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001103727]|not provided [RCV001518528] Chr11:102954497 [GRCh38]
Chr11:102825226 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.1101C>G (p.Pro367=) single nucleotide variant Metaphyseal anadysplasia [RCV001103628]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001103629]|not provided [RCV000890013] Chr11:102948001 [GRCh38]
Chr11:102818730 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.799+145T>C single nucleotide variant not provided [RCV001578171] Chr11:102951867 [GRCh38]
Chr11:102822596 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1052-178dup duplication not provided [RCV001559043] Chr11:102948221..102948222 [GRCh38]
Chr11:102818950..102818951 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.363-82G>A single nucleotide variant not provided [RCV001574365] Chr11:102954688 [GRCh38]
Chr11:102825417 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1212-254T>C single nucleotide variant not provided [RCV001621492] Chr11:102946003 [GRCh38]
Chr11:102816732 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1315+19C>T single nucleotide variant not provided [RCV001639361] Chr11:102945627 [GRCh38]
Chr11:102816356 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1052-237T>C single nucleotide variant not provided [RCV001686171] Chr11:102948287 [GRCh38]
Chr11:102819016 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1052-233C>T single nucleotide variant not provided [RCV001687156] Chr11:102948283 [GRCh38]
Chr11:102819012 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1316-15T>C single nucleotide variant Metaphyseal anadysplasia [RCV001108779]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108778] Chr11:102944381 [GRCh38]
Chr11:102815110 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1315+12C>T single nucleotide variant Metaphyseal anadysplasia [RCV001108780]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108781] Chr11:102945634 [GRCh38]
Chr11:102816363 [GRCh37]
Chr11:11q22.2
likely benign|uncertain significance
NM_002427.4(MMP13):c.800-1G>A single nucleotide variant not provided [RCV001057941] Chr11:102950228 [GRCh38]
Chr11:102820957 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*1171C>A single nucleotide variant Metaphyseal anadysplasia [RCV001106505]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106506] Chr11:102943095 [GRCh38]
Chr11:102813824 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*54T>C single nucleotide variant Metaphyseal anadysplasia [RCV001106617]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106618] Chr11:102944212 [GRCh38]
Chr11:102814941 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*13A>T single nucleotide variant Metaphyseal anadysplasia [RCV001106619]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106620] Chr11:102944253 [GRCh38]
Chr11:102814982 [GRCh37]
Chr11:11q22.2
benign|uncertain significance
NM_002427.4(MMP13):c.23C>T (p.Ala8Val) single nucleotide variant Metaphyseal anadysplasia [RCV001106799]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106800] Chr11:102955683 [GRCh38]
Chr11:102826412 [GRCh37]
Chr11:11q22.2
benign|likely benign
NM_002427.4(MMP13):c.756T>C (p.Phe252=) single nucleotide variant Metaphyseal anadysplasia [RCV001108882]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108881] Chr11:102952055 [GRCh38]
Chr11:102822784 [GRCh37]
Chr11:11q22.2
benign|uncertain significance
NM_002427.4(MMP13):c.917+329G>A single nucleotide variant not provided [RCV001695569] Chr11:102949781 [GRCh38]
Chr11:102820510 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.917+184G>A single nucleotide variant not provided [RCV001708574] Chr11:102949926 [GRCh38]
Chr11:102820655 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.799+92A>G single nucleotide variant not provided [RCV001710675] Chr11:102951920 [GRCh38]
Chr11:102822649 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1211+186CA[17] microsatellite not provided [RCV001616528] Chr11:102947668..102947671 [GRCh38]
Chr11:102818397..102818400 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.206G>T (p.Arg69Leu) single nucleotide variant Metaphyseal chondrodysplasia, Spahr type [RCV001196364] Chr11:102955408 [GRCh38]
Chr11:102826137 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.710G>A (p.Gly237Glu) single nucleotide variant Metaphyseal anadysplasia [RCV001103725]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001103724] Chr11:102952101 [GRCh38]
Chr11:102822830 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.*156A>G single nucleotide variant Metaphyseal anadysplasia [RCV001106616]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001106615] Chr11:102944110 [GRCh38]
Chr11:102814839 [GRCh37]
Chr11:11q22.2
benign|uncertain significance
NM_002427.4(MMP13):c.*852C>T single nucleotide variant Metaphyseal anadysplasia [RCV001108695]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108694] Chr11:102943414 [GRCh38]
Chr11:102814143 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.741C>T (p.Thr247=) single nucleotide variant Metaphyseal anadysplasia [RCV001108884]|Spondyloepimetaphyseal dysplasia, Missouri type [RCV001108883] Chr11:102952070 [GRCh38]
Chr11:102822799 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.492G>C (p.Met164Ile) single nucleotide variant Spondyloepimetaphyseal dysplasia, Missouri type [RCV001253346] Chr11:102954477 [GRCh38]
Chr11:102825206 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.539G>C (p.Gly180Ala) single nucleotide variant not provided [RCV001340235] Chr11:102954254 [GRCh38]
Chr11:102824983 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1005T>G (p.Asp335Glu) single nucleotide variant not provided [RCV001338202] Chr11:102949071 [GRCh38]
Chr11:102819800 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.251_268dup (p.Asp84_Asp89dup) duplication not provided [RCV001309037] Chr11:102955345..102955346 [GRCh38]
Chr11:102826074..102826075 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.190A>C (p.Met64Leu) single nucleotide variant not provided [RCV001372853] Chr11:102955424 [GRCh38]
Chr11:102826153 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.223T>C (p.Phe75Leu) single nucleotide variant Spondyloepimetaphyseal dysplasia, Missouri type [RCV001293681] Chr11:102955391 [GRCh38]
Chr11:102826120 [GRCh37]
Chr11:11q22.2
likely pathogenic
NM_002427.4(MMP13):c.1A>T (p.Met1Leu) single nucleotide variant Spondyloepimetaphyseal dysplasia, Missouri type [RCV001336462] Chr11:102955705 [GRCh38]
Chr11:102826434 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.802C>T (p.Pro268Ser) single nucleotide variant not provided [RCV001352105] Chr11:102950225 [GRCh38]
Chr11:102820954 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.244A>C (p.Lys82Gln) single nucleotide variant not provided [RCV001319281] Chr11:102955370 [GRCh38]
Chr11:102826099 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.856C>A (p.Pro286Thr) single nucleotide variant not provided [RCV001359948] Chr11:102950171 [GRCh38]
Chr11:102820900 [GRCh37]
Chr11:11q22.2
uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
NM_002427.4(MMP13):c.174G>T (p.Glu58Asp) single nucleotide variant not provided [RCV001367351] Chr11:102955440 [GRCh38]
Chr11:102826169 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.403G>C (p.Glu135Gln) single nucleotide variant not provided [RCV001359488] Chr11:102954566 [GRCh38]
Chr11:102825295 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.1173A>G (p.Thr391=) single nucleotide variant not provided [RCV001480939] Chr11:102947929 [GRCh38]
Chr11:102818658 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.138C>G (p.Tyr46Ter) single nucleotide variant not provided [RCV001388919] Chr11:102955476 [GRCh38]
Chr11:102826205 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002427.4(MMP13):c.1211+186CA[13] microsatellite not provided [RCV001590709] Chr11:102947668..102947679 [GRCh38]
Chr11:102818397..102818408 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1206C>T (p.Val402=) single nucleotide variant not provided [RCV001473586] Chr11:102947896 [GRCh38]
Chr11:102818625 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.918-29C>T single nucleotide variant not provided [RCV001674254] Chr11:102949187 [GRCh38]
Chr11:102819916 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1051+180A>G single nucleotide variant not provided [RCV001653390] Chr11:102948845 [GRCh38]
Chr11:102819574 [GRCh37]
Chr11:11q22.2
benign
Single allele deletion not provided [RCV001684910] Chr11:102956023 [GRCh38]
Chr11:102826752 [GRCh37]
Chr11:11q22.2
benign
Single allele single nucleotide variant not provided [RCV001694658] Chr11:102956023 [GRCh38]
Chr11:102826752 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1315+32G>C single nucleotide variant not provided [RCV001618815] Chr11:102945614 [GRCh38]
Chr11:102816343 [GRCh37]
Chr11:11q22.2
benign
NC_000011.9:g.102826539C>T single nucleotide variant not provided [RCV001514053] Chr11:102955810 [GRCh38]
Chr11:102826539 [GRCh37]
Chr11:11q22.2
benign
Single allele single nucleotide variant not provided [RCV001688077] Chr11:102942895 [GRCh38]
Chr11:102813624 [GRCh37]
Chr11:11q22.2
benign
NM_002427.4(MMP13):c.1052-1G>C single nucleotide variant not provided [RCV001378373] Chr11:102948051 [GRCh38]
Chr11:102818780 [GRCh37]
Chr11:11q22.2
likely pathogenic
NM_002427.4(MMP13):c.511+2T>A single nucleotide variant not provided [RCV001376878] Chr11:102954456 [GRCh38]
Chr11:102825185 [GRCh37]
Chr11:11q22.2
likely pathogenic
NM_002427.4(MMP13):c.840G>C (p.Thr280=) single nucleotide variant not provided [RCV001435582] Chr11:102950187 [GRCh38]
Chr11:102820916 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.774T>C (p.Asp258=) single nucleotide variant not provided [RCV001402616] Chr11:102952037 [GRCh38]
Chr11:102822766 [GRCh37]
Chr11:11q22.2
likely benign
NM_002427.4(MMP13):c.1388T>C (p.Met463Thr) single nucleotide variant not provided [RCV001768905] Chr11:102944294 [GRCh38]
Chr11:102815023 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002427.4(MMP13):c.731A>G (p.Tyr244Cys) single nucleotide variant not provided [RCV001774305] Chr11:102952080 [GRCh38]
Chr11:102822809 [GRCh37]
Chr11:11q22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7159 AgrOrtholog
COSMIC MMP13 COSMIC
Ensembl Genes ENSG00000137745 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000260302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000339672 UniProtKB/TrEMBL
  ENSP00000482883 UniProtKB/TrEMBL
Ensembl Transcript ENST00000260302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340273 UniProtKB/TrEMBL
  ENST00000615555 UniProtKB/TrEMBL
Gene3D-CATH 2.110.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137745 GTEx
HGNC ID HGNC:7159 ENTREZGENE
Human Proteome Map MMP13 Human Proteome Map
InterPro Collagenase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M10A_MMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10_metallopeptidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A_Zn_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_Metallo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidoglycan-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGBD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4322 ENTREZGENE
OMIM 250400 OMIM
  600108 OMIM
  602111 OMIM
PANTHER PTHR10201:SF165 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hemopexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PG_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30871 PharmGKB
PIRSF Peptidase_M10A_matrix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS MATRIXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYSTEINE_SWITCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART SM00120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnMc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47090 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A4P8LAY1_HUMAN UniProtKB/TrEMBL
  G5E971_HUMAN UniProtKB/TrEMBL
  L0R508_HUMAN UniProtKB/TrEMBL
  L8EA04_HUMAN UniProtKB/TrEMBL
  MMP13_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53H33 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z5M0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K846 UniProtKB/Swiss-Prot
  B2RCZ3 UniProtKB/Swiss-Prot
  Q6NWN6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-03 MMP13  matrix metallopeptidase 13    matrix metallopeptidase 13 (collagenase 3)  Symbol and/or name change 5135510 APPROVED
2011-08-16 MMP13  matrix metallopeptidase 13 (collagenase 3)  MMP13  matrix metallopeptidase 13 (collagenase 3)  Symbol and/or name change 5135510 APPROVED