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Aliases for MMP12 Gene

Aliases for MMP12 Gene

  • Matrix Metallopeptidase 12 2 3 5
  • Matrix Metalloproteinase 12 (Macrophage Elastase) 2 3
  • Macrophage Elastase 2 4
  • EC 3.4.24.65 4 61
  • MMP-12 3 4
  • HME 3 4
  • MME 3 4
  • ME 3 4
  • Matrix Metallopeptidase 12 (Macrophage Elastase) 3
  • Matrix Metalloproteinase-12 4
  • Macrophage Metalloelastase 3
  • EC 3.4.24 61

External Ids for MMP12 Gene

Previous GeneCards Identifiers for MMP12 Gene

  • GC11M104927
  • GC11M104090
  • GC11M102767
  • GC11M102271
  • GC11M102238
  • GC11M098661

Summaries for MMP12 Gene

Entrez Gene Summary for MMP12 Gene

  • 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]

GeneCards Summary for MMP12 Gene

MMP12 (Matrix Metallopeptidase 12) is a Protein Coding gene. Diseases associated with MMP12 include Mid-Dermal Elastolysis and Aneurysm. Among its related pathways are GPCR Pathway and Spinal Cord Injury. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP3.

UniProtKB/Swiss-Prot for MMP12 Gene

  • May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1 site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.

Tocris Summary for MMP12 Gene

  • Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent endopeptidases and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.

Gene Wiki entry for MMP12 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMP12 Gene

Genomics for MMP12 Gene

Regulatory Elements for MMP12 Gene

Enhancers for MMP12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F102848 0.7 ENCODE 0.3 +24.5 24530 3.0 JUN BHLHE40 HLF USF2 CEBPB EP300 ZBTB40 JUND STAT3 FOS MMP1 RNU7-159P MMP3 MMP12
GH11F102853 0.2 ENCODE 0.3 +20.9 20898 1.6 RNU7-159P MMP1 MMP3 MMP12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMP12 on UCSC Golden Path with GeneCards custom track

Genomic Location for MMP12 Gene

Chromosome:
11
Start:
102,862,733 bp from pter
End:
102,875,034 bp from pter
Size:
12,302 bases
Orientation:
Minus strand

Genomic View for MMP12 Gene

Genes around MMP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP12 Gene

Proteins for MMP12 Gene

  • Protein details for MMP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39900-MMP12_HUMAN
    Recommended name:
    Macrophage metalloelastase
    Protein Accession:
    P39900
    Secondary Accessions:
    • B2R9X8
    • B7ZLF6
    • Q2M1L9

    Protein attributes for MMP12 Gene

    Size:
    470 amino acids
    Molecular mass:
    54002 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MMP12 Gene

neXtProt entry for MMP12 Gene

Selected DME Specific Peptides for MMP12 Gene

P39900:
  • PRCGVPD
  • WSNVTPL
  • GIQSLYG
  • VKKIDAA
  • FKDRFFW

Post-translational modifications for MMP12 Gene

  • Glycosylation at Asn 20 and Asn 285
  • Modification sites at PhosphoSitePlus

Other Protein References for MMP12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MMP12
  • Cloud-Clone Corp. Antibodies for MMP12

Assay Products

  • Enzo Life Sciences assays for MMP12
  • Cloud-Clone Corp Assay Kits for MMP12
  • Abcam assays for MMP12

Domains & Families for MMP12 Gene

Gene Families for MMP12 Gene

Suggested Antigen Peptide Sequences for MMP12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P39900

UniProtKB/Swiss-Prot:

MMP12_HUMAN :
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • Belongs to the peptidase M10A family.
  • Contains 4 hemopexin repeats.
Domain:
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Family:
  • Belongs to the peptidase M10A family.
Similarity:
  • Contains 4 hemopexin repeats.
genes like me logo Genes that share domains with MMP12: view

Function for MMP12 Gene

Molecular function for MMP12 Gene

GENATLAS Biochemistry:
matrix metalloproteinase 12,regulator in matrix remodeling in the MMP cluster,expressed in alveolar macrophage and placental cells,mRNA upregulated in rheumatoid arthritis
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of soluble and insoluble elastin. Specific cleavages are also produced at 14-Ala- -Leu-15 and 16-Tyr- -Leu-17 in the B chain of insulin.
UniProtKB/Swiss-Prot Function:
May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1 site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
UniProtKB/Swiss-Prot Induction:
By exposure to bacterial lipopolysaccharides (LPS). Inhibited by dexamethasone.

Enzyme Numbers (IUBMB) for MMP12 Gene

Gene Ontology (GO) - Molecular Function for MMP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity TAS 8226919
GO:0004222 metalloendopeptidase activity TAS 8226919
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MMP12: view
genes like me logo Genes that share phenotypes with MMP12: view

Animal Models for MMP12 Gene

MGI Knock Outs for MMP12:

Animal Model Products

  • Taconic Biosciences Mouse Models for MMP12

miRNA for MMP12 Gene

miRTarBase miRNAs that target MMP12

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MMP12 Gene

Localization for MMP12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP12 Gene

Secreted, extracellular space, extracellular matrix.

Gene Ontology (GO) - Cellular Components for MMP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with MMP12: view

No data available for Subcellular locations from COMPARTMENTS for MMP12 Gene

Pathways & Interactions for MMP12 Gene

genes like me logo Genes that share pathways with MMP12: view

Interacting Proteins for MMP12 Gene

Gene Ontology (GO) - Biological Process for MMP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030574 collagen catabolic process TAS --
GO:0035313 wound healing, spreading of epidermal cells IDA 15802269
GO:0042060 wound healing IEA --
genes like me logo Genes that share ontologies with MMP12: view

No data available for SIGNOR curated interactions for MMP12 Gene

Drugs & Compounds for MMP12 Gene

(34) Drugs for MMP12 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetohydroxamic Acid Approved Pharma Target, inhibitor 1
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Batimastat Experimental Pharma Target Potent, broad spectrum MMP inhibitor 0
(1S,5S,7R)-N~7~-(BIPHENYL-4-YLMETHYL)-N~3~-HYDROXY-6,8-DIOXA-3-AZABICYCLO[3.2.1]OCTANE-3,7-DICARBOXAMIDE Experimental Pharma Target 0
2-[(4-fluorophenyl)sulfonylamino]-N-oxo-ethanamide Experimental Pharma Target 0

(10) Additional Compounds for MMP12 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TMI 1
287403-39-8

(5) Tocris Compounds for MMP12 Gene

Compound Action Cas Number
Batimastat Potent, broad spectrum MMP inhibitor 130370-60-4
GI 254023X Selective ADAM10 metalloprotease inhibitor 260264-93-5
GM 6001 Broad spectrum MMP inhibitor 142880-36-2
TMI 1 Adam 17 (TACE) and MMP inhibitor; orally bioavailable 287403-39-8
WAY 170523 Potent and selective inhibitor of MMP-13 307002-73-9

(2) ApexBio Compounds for MMP12 Gene

Compound Action Cas Number
ONO 4817 MMP inhibitor 223472-31-9
UK 370106 MMP-3/MMP-12 Inhiibitor,highly selective 230961-21-4
genes like me logo Genes that share compounds with MMP12: view

Drug Products

Transcripts for MMP12 Gene

mRNA/cDNA for MMP12 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MMP12 Gene

Matrix metallopeptidase 12 (macrophage elastase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMP12 Gene

No ASD Table

Relevant External Links for MMP12 Gene

GeneLoc Exon Structure for
MMP12
ECgene alternative splicing isoforms for
MMP12

Expression for MMP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMP12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMP12 Gene

This gene is overexpressed in Minor Salivary Gland (x10.9), Small Intestine - Terminal Ileum (x8.3), Spleen (x7.8), Colon - Transverse (x7.1), and Bladder (x4.4).

Protein differential expression in normal tissues from HIPED for MMP12 Gene

This gene is overexpressed in Islet of Langerhans (40.7), Placenta (21.1), and Pancreas (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MMP12 Gene



Protein tissue co-expression partners for MMP12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MMP12 Gene:

MMP12

SOURCE GeneReport for Unigene cluster for MMP12 Gene:

Hs.1695

mRNA Expression by UniProt/SwissProt for MMP12 Gene:

P39900-MMP12_HUMAN
Tissue specificity: Found in alveolar macrophages but not in peripheral blood monocytes.
genes like me logo Genes that share expression patterns with MMP12: view

Primer Products

Orthologs for MMP12 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMP12 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia MMP12 34
  • 79.89 (n)
cow
(Bos Taurus)
Mammalia MMP12 34
  • 78.75 (n)
mouse
(Mus musculus)
Mammalia Mmp12 34 16
  • 75.7 (n)
rat
(Rattus norvegicus)
Mammalia Mmp12 34
  • 75.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mmp2 36
  • 35 (a)
Species where no ortholog for MMP12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MMP12 Gene

ENSEMBL:
Gene Tree for MMP12 (if available)
TreeFam:
Gene Tree for MMP12 (if available)

Paralogs for MMP12 Gene

(15) SIMAP similar genes for MMP12 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MMP12 Gene

genes like me logo Genes that share paralogs with MMP12: view

Variants for MMP12 Gene

Sequence variations from dbSNP and Humsavar for MMP12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1042509 -- 102,862,861(-) CAAGA(G/T)AATTC utr-variant-3-prime
rs10895367 -- 102,874,400(+) GAAAA(C/G)CTGTA intron-variant
rs11225442 -- 102,868,589(+) ATAAG(A/G)CTATC intron-variant
rs11225443 -- 102,872,221(+) TTGCT(C/T)CTGCT intron-variant
rs11225444 -- 102,877,009(+) TACAC(A/G)TAGGA upstream-variant-2KB

Relevant External Links for MMP12 Gene

Human Gene Mutation Database (HGMD)
MMP12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MMP12 Gene

Disorders for MMP12 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MMP12 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
mid-dermal elastolysis
aneurysm
  • aneurysms
pulmonary emphysema
coronary artery aneurysm
  • coronary aneurysm
dermatitis herpetiformis
  • dermatitis herpetiformis, familial
- elite association - COSMIC cancer census association via MalaCards
Search MMP12 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MMP12

Genetic Association Database (GAD)
MMP12
Human Genome Epidemiology (HuGE) Navigator
MMP12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMP12
genes like me logo Genes that share disorders with MMP12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MMP12 Gene

Publications for MMP12 Gene

  1. [Association of functional polymorphisms on MMP-12 and MMP-13 gene promoter region with epithelial ovarian carcinoma]. (PMID: 20376807) Jia J. … Li Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 22 46 64
  2. The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. (PMID: 11875051) Joos L. … Sandford A.J. (Hum. Mol. Genet. 2002) 3 22 46 64
  3. Substrate specificity determinants of human macrophage elastase (MMP- 12) based on the 1.1 A crystal structure. (PMID: 11575928) Lang R. … Maskos K. (J. Mol. Biol. 2001) 3 4 22 64
  4. Crystal structure of human macrophage elastase (MMP-12) in complex with a hydroxamic acid inhibitor. (PMID: 11575929) Nar H. … Jung B. (J. Mol. Biol. 2001) 3 4 22 64
  5. Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase. (PMID: 9115292) Gronski T.J. Jr. … Shapiro S.D. (J. Biol. Chem. 1997) 3 4 22 64

Products for MMP12 Gene

Sources for MMP12 Gene

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