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Gene id

4321

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

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

Tissue specificity: Found in alveolar macrophages but not in peripheral blood monocytes.

Sequence

MKFLLILLLQATASGALPLNSSTSLEKNNVLFGERYLEKFYGLEINKLPVTKMKYSGNLMKEKIQEMQHFLGLKV
TGQLDTSTLEMMHAPRCGVPDVHHFREMPGGPVWRKHYITYRINNYTPDMNREDVDYAIRKAFQVWSNVTPLKFS
KINTGMADILVVFARGAHGDFHAFDGKGGILAHAFGPGSGIGGDAHFDEDEFWTTHSGGTNLFLTAVHEIGHSLG
LGHSSDPKAVMFPTYKYVDINTFRLSADDIRGIQSLYGDPKENQRLPNPDNSEPALCDPNLSFDAVTTVGNKIFF
FKDRFFWLKVSERPKTSVNLISSLWPTLPSGIEAAYEIEARNQVFLFKDDKYWLISNLRPEPNYPKSIHSFGFPN
FVKKIDAAVFNPRFYRTYFFVDNQYWRYDERRQMMDPGYPKLITKNFQGIGPKIDAVFYSKNKYYYFFQGSNQFE
YDFLLQRITKTLKSNSWFGC

Structural information

Motifs	Cysteine switch.(90-97)
Interpro:	IPR000585 IPR018487 IPR018486 IPR033739 IPR024079 IPR028718 IPR001818 IPR021190 IPR016293 IPR021158 IPR006026 IPR002477
Prosite:	PS00546 PS00024 PS51642 PS00142
Pfam:	PF00045 PF00413 PF01471
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
MINT:	7709562

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 acti vity	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 extracellul ar matrix	IEA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	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 ep ithelial cell proliferati on involved in wound heal ing	IDA	biological_process
GO:0004175	endopeptidase activity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	IEA	molecular_function
GO:0004222	metalloendopeptidase acti vity	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 extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar 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 cycli c compound	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	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 ep ithelial cell proliferati on	IEA	biological_process
GO:0060054	positive regulation of ep ithelial cell proliferati on involved in wound heal ing	IDA	biological_process
GO:0004175	endopeptidase activity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	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 disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0035313	wound healing, spreading of epidermal cells	IDA	biological_process
GO:0060054	positive regulation of ep ithelial cell proliferati on involved in wound heal ing	IDA	biological_process

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis (ALS)	PMID: 18608101
Aortic aneurysm	PMID: 11546917
Asthma	PMID: 20018959
Cancer	PMID: 16311244
Chronic kidney failure	PMID: 19578796
Chronic obstructive pulmonary disease (COPD)	PMID: 16676616
Endometriosis	PMID: 18308831
Glomerulonephritis	PMID: 19420105
Inflammatory process of male genital tract	PMID: 24528255
Leucocytospermia	PMID: 24528255
Metabolic syndrome	PMID: 19056482
Multiple sclerosis	PMID: 19628284
Endometriosis	INFBASE18308831
Rheumatoid arthritis	PMID: 17373931

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18308831	Endometrio sis	MMP1 -1607 1G/2G, MMP2 -1575 G/A (MMP2.1), -1306 C/T (MMP2.2), MMP3 -1612 5A/6A, MMP7 -153 C/T (MMP7.1), -181 A/G (MMP7.2), MMP12 -82 A/G and MMP13-77 A/G		468 (227 endome triosis, 241 co ntrols)		MMP12 MMP13	Show abstract