• Gene id: 4321

Gene Summary

• Gene Symbol: MMP12   Gene   UCSC   Ensembl
• Aliases: HME, ME, MME, MMP-12
• Gene name: matrix metallopeptidase 12
• Alternate names: macrophage metalloelastase, matrix metallopeptidase 12 (macrophage elastase), matrix metalloproteinase 12 (macrophage elastase),
• Gene location: 11q22.2 (102875033: 102862728)     Exons: 10     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and t
• OMIM: 601046

Protein Summary

• Protein general information: P39900  
  • Name: Macrophage metalloelastase (MME) (EC 3.4.24.65) (Macrophage elastase) (ME) (hME) (Matrix metalloproteinase 12) (MMP 12)
  • Length: 470  
  • Mass: 54,002
• Sequence:

  MKFLLILLLQATASGALPLNSSTSLEKNNVLFGERYLEKFYGLEINKLPVTKMKYSGNLMKEKIQEMQHFLGLKV
  TGQLDTSTLEMMHAPRCGVPDVHHFREMPGGPVWRKHYITYRINNYTPDMNREDVDYAIRKAFQVWSNVTPLKFS
  KINTGMADILVVFARGAHGDFHAFDGKGGILAHAFGPGSGIGGDAHFDEDEFWTTHSGGTNLFLTAVHEIGHSLG
  LGHSSDPKAVMFPTYKYVDINTFRLSADDIRGIQSLYGDPKENQRLPNPDNSEPALCDPNLSFDAVTTVGNKIFF
  FKDRFFWLKVSERPKTSVNLISSLWPTLPSGIEAAYEIEARNQVFLFKDDKYWLISNLRPEPNYPKSIHSFGFPN
  FVKKIDAAVFNPRFYRTYFFVDNQYWRYDERRQMMDPGYPKLITKNFQGIGPKIDAVFYSKNKYYYFFQGSNQFE
  YDFLLQRITKTLKSNSWFGC

• Structural information:
  • Interpro: IPR000585  IPR036375  IPR018487  IPR018486  IPR033739   IPR024079  IPR028718  IPR001818  IPR021190  IPR021158  IPR006026  IPR002477  IPR036365  IPR036366  
  • Prosite: PS00546 PS00024 PS51642 PS00142
  • CDD: cd00094 cd04278
  • PDB: 1JIZ 1JK3 1OS2 1OS9 1RMZ 1ROS 1UTT 1UTZ 1Y93 1YCM 1Z3J 2HU6 2JXY 2K2G 2K9C 2KRJ 2MLR 2MLS 2N8R 2OXU 2OXW 2OXZ 2POJ 2W0D 2WO8 2WO9 2WOA 2Z2D 3BA0 3EHX 3EHY 3F15 3F16 3F17 3F18 3F19 3F1A 3LIK 3LIL 3LIR 3LJG 3LK8 3LKA 3N2U 3N2V 3NX7 3RTS 3RTT 3TS4 3TSK 3UVC
  • PDBsum: 1JIZ 1JK3 1OS2 1OS9 1RMZ 1ROS 1UTT 1UTZ 1Y93 1YCM 1Z3J 2HU6 2JXY 2K2G 2K9C 2KRJ 2MLR 2MLS 2N8R 2OXU 2OXW 2OXZ 2POJ 2W0D 2WO8 2WO9 2WOA 2Z2D 3BA0 3EHX 3EHY 3F15 3F16 3F17 3F18 3F19 3F1A 3LIK 3LIL 3LIR 3LJG 3LK8 3LKA 3N2U 3N2V 3NX7 3RTS 3RTT 3TS4 3TSK 3UVC
• Other Databases: GeneCards:  MMP12  Malacards:  MMP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004175	endopeptidase activity	TAS	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0035313	wound healing, spreading of epidermal cells	IDA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IDA	biological process
GO:0004175	endopeptidase activity	TAS	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0035313	wound healing, spreading of epidermal cells	IDA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IDA	biological process
GO:0004175	endopeptidase activity	TAS	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0008270	zinc ion binding	TAS	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0035313	wound healing, spreading of epidermal cells	IDA	biological process
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IDA	biological process

Diseases

Associated diseases	References
Cancer (Squamous cell)	GAD: 19562509
Cancer (Adenocarcinoma)	GAD: 19321798
Cancer	GAD: 20376807
Cancer	GAD: 16311244
Cancer (lung)	GAD: 16311244
Cancer (bladder)	GAD: 17473191
Cancer (nasopharyngeal)	GAD: 17607721
Cancer (Hepatocellular)	GAD: 17339256
Cancer (ovarian)	GAD: 19258954
Cancer (breast)	GAD: 15987457
Blood pressure	GAD: 19590686
Carotid artery diseases	GAD: 19664242
Aortic aneurysm	GAD: 15944607
Cardiovascular disease	GAD: 12103254
Aneurysm	GAD: 17182940
Atherosclerosis	GAD: 20485444
Mucocutaneous lymph node syndrome	GAD: 20230842
Asthma	GAD: 20018959
Multiple sclerosis	GAD: 19628284
Rheumatoid arthritis	GAD: 17373931
Rheumatoid arthritis	GAD: 17373931
Scleroderma	GAD: 20595276
Asthma	GAD: 20018959
Multiple sclerosis	GAD: 19628284
Inflammatory process of male genital tract	MIK: 24528255
Metabolic syndrome	GAD: 19056482
Metabolic syndrome	GAD: 19056482
Subarachnoid hemorrhage	GAD: 11546917
Subarachnoid hemorrhage	GAD: 11546917
Amyotrophic lateral sclerosis (ALS)	GAD: 18608101
Amyotrophic lateral sclerosis (ALS)	GAD: 18608101
Kidney diseases	GAD: 19578796
Kidney diseases	GAD: 19578796
Endometriosis	INFBASE: 18308831
Oligoasthenoteratozoospermia	MIK: 24528255
Oligoasthenozoospermia	MIK: 24528255
Azoospermia	MIK: 24528255
Leukocytospermia	MIK: 24528255
Chorioamnionitis	GAD: 20452482
Endometriosis	GAD: 18308831
Lung disease	GAD: 11875051
Chronic obstructive pulmonary disease (COPD)	GAD: 18619044
Chronic obstructive pulmonary disease (COPD)	GAD: 16676616
Chronic obstructive pulmonary disease (COPD)	GAD: 16676616
Varicose ulcer	GAD: 19958990
Alpha 1-antitrypsin deficiency	GAD: 19293200
Chronic renal failure	GAD: 21085059
Inflammatory process of male genital tract	MIK: 24528255
Oligoasthenozoospermia	MIK: 24528255
Azoospermia	MIK: 24528255
Leucocytospermia	MIK: 24528255
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24528255	OAT, azoospermia, leucocytospermia			42 (11 normozoospermia, 10 OAT, 10 azoospermia, 11 leucocytospermia)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)