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Aliases for MMP12 Gene

Aliases for MMP12 Gene

  • Matrix Metallopeptidase 12 2 3
  • Matrix Metalloproteinase 12 (Macrophage Elastase) 2 3
  • Macrophage Elastase 2 4
  • EC 3.4.24.65 4 63
  • MMP-12 3 4
  • HME 3 4
  • MME 3 4
  • ME 3 4
  • Matrix Metallopeptidase 12 (Macrophage Elastase) 3
  • Matrix Metalloproteinase-12 4
  • EC 3.4.24 63

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

  • Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMP12 Gene

MMP12 (Matrix Metallopeptidase 12) is a Protein Coding gene. Diseases associated with MMP12 include mid-dermal elastolysis and pulmonary emphysema. Among its related pathways are GPCR Pathway and Integrin Pathway. GO annotations related to this gene include calcium ion binding and metallopeptidase activity.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 4 Ca(2+) ions per subunit.;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MMP12 Gene

neXtProt entry for MMP12 Gene

Proteomics data for MMP12 Gene at MOPED

Selected DME Specific Peptides for MMP12 Gene

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

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:0005509 calcium ion binding IEA --
GO:0008237 metallopeptidase activity --
GO:0008270 zinc ion binding 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

miRNA for MMP12 Gene

miRTarBase miRNAs that target MMP12

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMP12

In Situ Assay Products

Flow Cytometry Products

No data available for 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:0031012 extracellular matrix --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for MMP12 Gene

Selected Interacting proteins: P39900-MMP12_HUMAN for MMP12 Gene via I2D MINT

Gene Ontology (GO) - Biological Process for MMP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
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

(28) Drugs for MMP12 Gene - From: NovoSeek, DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetohydroxamic Acid Approved Pharma Target, inhibitor 0
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Dexamethasone Approved, Investigational Pharma Agonist 1806
Etanercept Approved, Investigational Pharma 0
Nitric Oxide Approved Pharma 540

(15) Additional Compounds for MMP12 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ARP 100
704888-90-4
ARP 101
849773-63-3
Minocycline hydrochloride
13614-98-7
ONO 4817
223472-31-9
PD 166793
199850-67-4
genes like me logo Genes that share compounds with MMP12: view

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMP12

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 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



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

Protein tissue co-expression partners for MMP12 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MMP12 35
  • 78.75 (n)
  • 68.02 (a)
dog
(Canis familiaris)
Mammalia MMP12 35
  • 79.89 (n)
  • 70.58 (a)
mouse
(Mus musculus)
Mammalia Mmp12 35
  • 75.7 (n)
  • 63.34 (a)
Mmp12 16
chimpanzee
(Pan troglodytes)
Mammalia MMP12 35
  • 99.43 (n)
  • 99.15 (a)
rat
(Rattus norvegicus)
Mammalia Mmp12 35
  • 75.42 (n)
  • 64.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mmp2 37
  • 35 (a)
Species with no ortholog for MMP12:
  • 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

No data available for Paralogs for MMP12 Gene

Variants for MMP12 Gene

Sequence variations from dbSNP and Humsavar for MMP12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs476185 -- 102,864,372(+) ATGAA(A/G/T)AAAAC intron-variant
rs476391 -- 102,864,299(-) GTCAG(C/G)AAAGC intron-variant
rs505770 -- 102,863,479(-) TCAAC(A/T)TTTAT intron-variant
rs626729 -- 102,862,639(-) TGACT(A/G)TATCA downstream-variant-500B
rs632009 -- 102,867,768(+) TAATA(C/T)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMP12 Gene

Variant ID Type Subtype PubMed ID
nsv898335 CNV Loss 21882294

Relevant External Links for MMP12 Gene

HapMap Linkage Disequilibrium report
MMP12
Human Gene Mutation Database (HGMD)
MMP12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
pulmonary emphysema
pulmonary disease, chronic obstructive
  • copd, rate of decline of lung function in
aneurysm
  • aneurysms
dermatitis herpetiformis
  • duhring's disease
- elite association
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. Synthesis of bicyclic molecular scaffolds (BTAa): an investigation towards new selective MMP-12 inhibitors. (PMID: 16899369) Mannino C. … Guarna A. (Bioorg. Med. Chem. 2006) 23 25 26 67
  2. Conformational variability of matrix metalloproteinases: beyond a single 3D structure. (PMID: 15809432) Bertini I. … Turano P. (Proc. Natl. Acad. Sci. U.S.A. 2005) 23 25 26 67
  3. Possible involvements of nuclear factor-kappa B and activator protein-1 in the tumor necrosis factor-alpha-induced upregulation of matrix metalloproteinase-12 in human alveolar epithelial A549 cell line. (PMID: 20051654) Yu Y. … Misawa M. (J. Pharmacol. Sci. 2010) 23 67
  4. Plasma matrix metalloproteinases, cytokines and angiogenic factors in moyamoya disease. (PMID: 19965844) Kang H.S. … Kim S.K. (J. Neurol. Neurosurg. Psychiatr. 2010) 23 67
  5. Dynamic, M2-like remodeling phenotypes of CD11c+ adipose tissue macrophages during high-fat diet--induced obesity in mice. (PMID: 20185806) Shaul M.E. … Obin M.S. (Diabetes 2010) 23 67

Products for MMP12 Gene

Sources for MMP12 Gene

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