Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MMP12 (matrix metallopeptidase 12)

Identity

Alias_namesmatrix metalloproteinase 12 (macrophage elastase)
Alias_symbol (synonym)HME
Other aliasME
MME
MMP-12
HGNC (Hugo) MMP12
LocusID (NCBI) 4321
Atlas_Id 41389
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102862729 and ends at 102875034 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MMP12 (11q22.2) / TMEM232 (5q22.1)TNS2 (12q13.13) / MMP12 (11q22.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MMP12   7158
Cards
Entrez_Gene (NCBI)MMP12  4321  matrix metallopeptidase 12
AliasesHME; ME; MME; MMP-12
GeneCards (Weizmann)MMP12
Ensembl hg19 (Hinxton)ENSG00000262406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000262406 [Gene_View]  chr11:102862729-102875034 [Contig_View]  MMP12 [Vega]
ICGC DataPortalENSG00000262406
TCGA cBioPortalMMP12
AceView (NCBI)MMP12
Genatlas (Paris)MMP12
WikiGenes4321
SOURCE (Princeton)MMP12
Genetics Home Reference (NIH)MMP12
Genomic and cartography
GoldenPath hg38 (UCSC)MMP12  -     chr11:102862729-102875034 -  11q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MMP12  -     11q22.2   [Description]    (hg19-Feb_2009)
EnsemblMMP12 - 11q22.2 [CytoView hg19]  MMP12 - 11q22.2 [CytoView hg38]
Mapping of homologs : NCBIMMP12 [Mapview hg19]  MMP12 [Mapview hg38]
OMIM601046   
Gene and transcription
Genbank (Entrez)AI343504 AI352562 AK313959 AW172994 BC112301
RefSeq transcript (Entrez)NM_002426
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MMP12
Cluster EST : UnigeneHs.709832 [ NCBI ]
CGAP (NCI)Hs.709832
Alternative Splicing GalleryENSG00000262406
Gene ExpressionMMP12 [ NCBI-GEO ]   MMP12 [ EBI - ARRAY_EXPRESS ]   MMP12 [ SEEK ]   MMP12 [ MEM ]
Gene Expression Viewer (FireBrowse)MMP12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4321
GTEX Portal (Tissue expression)MMP12
Human Protein AtlasENSG00000262406-MMP12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP39900   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP39900  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP39900
Splice isoforms : SwissVarP39900
Catalytic activity : Enzyme3.4.24.65 [ Enzyme-Expasy ]   3.4.24.653.4.24.65 [ IntEnz-EBI ]   3.4.24.65 [ BRENDA ]   3.4.24.65 [ KEGG ]   
PhosPhoSitePlusP39900
Domaine pattern : Prosite (Expaxy)CYSTEINE_SWITCH (PS00546)    HEMOPEXIN (PS00024)    HEMOPEXIN_2 (PS51642)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Hemopexin-like_dom    Hemopexin-like_repeat    Hemopexin_CS    M10A_MMP    MetalloPept_cat_dom    MMP12    Pept_M10_metallopeptidase    Pept_M10A    Pept_M10A_stromelysin-type    Pept_M10A_Zn_BS    Peptidase_Metallo    Peptidoglycan-bd-like   
Domain families : Pfam (Sanger)Hemopexin (PF00045)    Peptidase_M10 (PF00413)    PG_binding_1 (PF01471)   
Domain families : Pfam (NCBI)pfam00045    pfam00413    pfam01471   
Domain families : Smart (EMBL)HX (SM00120)  ZnMc (SM00235)  
Conserved Domain (NCBI)MMP12
DMDM Disease mutations4321
Blocks (Seattle)MMP12
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP39900
Human Protein Atlas [tissue]ENSG00000262406-MMP12 [tissue]
Peptide AtlasP39900
HPRD03027
IPIIPI00298246   
Protein Interaction databases
DIP (DOE-UCLA)P39900
IntAct (EBI)P39900
FunCoupENSG00000262406
BioGRIDMMP12
STRING (EMBL)MMP12
ZODIACMMP12
Ontologies - Pathways
QuickGOP39900
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  core promoter binding  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  collagen binding  extracellular region  proteinaceous extracellular matrix  extracellular space  nucleus  cytoplasm  proteolysis  proteolysis  protein import into nucleus  zinc ion binding  extracellular matrix disassembly  collagen catabolic process  wound healing, spreading of epidermal cells  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of defense response to virus by host  positive regulation of epithelial cell proliferation involved in wound healing  negative regulation of type I interferon-mediated signaling pathway  positive regulation of type I interferon-mediated signaling pathway  cellular response to virus  positive regulation of interferon-alpha secretion  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  core promoter binding  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  collagen binding  extracellular region  proteinaceous extracellular matrix  extracellular space  nucleus  cytoplasm  proteolysis  proteolysis  protein import into nucleus  zinc ion binding  extracellular matrix disassembly  collagen catabolic process  wound healing, spreading of epidermal cells  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  regulation of defense response to virus by host  positive regulation of epithelial cell proliferation involved in wound healing  negative regulation of type I interferon-mediated signaling pathway  positive regulation of type I interferon-mediated signaling pathway  cellular response to virus  positive regulation of interferon-alpha secretion  
NDEx NetworkMMP12
Atlas of Cancer Signalling NetworkMMP12
Wikipedia pathwaysMMP12
Orthology - Evolution
OrthoDB4321
GeneTree (enSembl)ENSG00000262406
Phylogenetic Trees/Animal Genes : TreeFamMMP12
HOVERGENP39900
HOGENOMP39900
Homologs : HomoloGeneMMP12
Homology/Alignments : Family Browser (UCSC)MMP12
Gene fusions - Rearrangements
Tumor Fusion PortalMMP12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMP12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMP12
dbVarMMP12
ClinVarMMP12
1000_GenomesMMP12 
Exome Variant ServerMMP12
ExAC (Exome Aggregation Consortium)ENSG00000262406
GNOMAD BrowserENSG00000262406
Genetic variants : HAPMAP4321
Genomic Variants (DGV)MMP12 [DGVbeta]
DECIPHERMMP12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMMP12 
Mutations
ICGC Data PortalMMP12 
TCGA Data PortalMMP12 
Broad Tumor PortalMMP12
OASIS PortalMMP12 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMMP12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MMP12
DgiDB (Drug Gene Interaction Database)MMP12
DoCM (Curated mutations)MMP12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMP12 (select a term)
intoGenMMP12
Cancer3DMMP12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601046   
Orphanet
DisGeNETMMP12
MedgenMMP12
Genetic Testing Registry MMP12
NextProtP39900 [Medical]
TSGene4321
GENETestsMMP12
Target ValidationMMP12
Huge Navigator MMP12 [HugePedia]
snp3D : Map Gene to Disease4321
BioCentury BCIQMMP12
ClinGenMMP12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4321
Chemical/Pharm GKB GenePA30870
Clinical trialMMP12
Miscellaneous
canSAR (ICR)MMP12 (select the gene name)
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMP12
EVEXMMP12
GoPubMedMMP12
iHOPMMP12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:24:31 CET 2017

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