Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MMP13 (matrix metallopeptidase 13)

Identity

Alias_namesmatrix metalloproteinase 13 (collagenase 3)
Alias_symbol (synonym)CLG3
Other aliasMANDP1
MMP-13
HGNC (Hugo) MMP13
LocusID (NCBI) 4322
Atlas_Id 41390
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102813721 and ends at 102826463 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
H19 (11p15.5) / MMP13 (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)MMP13   7159
Cards
Entrez_Gene (NCBI)MMP13  4322  matrix metallopeptidase 13
AliasesCLG3; MANDP1; MMP-13
GeneCards (Weizmann)MMP13
Ensembl hg19 (Hinxton)ENSG00000137745 [Gene_View]  chr11:102813721-102826463 [Contig_View]  MMP13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137745 [Gene_View]  chr11:102813721-102826463 [Contig_View]  MMP13 [Vega]
ICGC DataPortalENSG00000137745
TCGA cBioPortalMMP13
AceView (NCBI)MMP13
Genatlas (Paris)MMP13
WikiGenes4322
SOURCE (Princeton)MMP13
Genetics Home Reference (NIH)MMP13
Genomic and cartography
GoldenPath hg19 (UCSC)MMP13  -     chr11:102813721-102826463 -  11q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMP13  -     11q22.2   [Description]    (hg38-Dec_2013)
EnsemblMMP13 - 11q22.2 [CytoView hg19]  MMP13 - 11q22.2 [CytoView hg38]
Mapping of homologs : NCBIMMP13 [Mapview hg19]  MMP13 [Mapview hg38]
OMIM600108   602111   
Gene and transcription
Genbank (Entrez)AK222748 AK292211 AK315341 AY256443 AY256444
RefSeq transcript (Entrez)NM_002427
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_021404 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)MMP13
Cluster EST : UnigeneHs.2936 [ NCBI ]
CGAP (NCI)Hs.2936
Alternative Splicing GalleryENSG00000137745
Gene ExpressionMMP13 [ NCBI-GEO ]   MMP13 [ EBI - ARRAY_EXPRESS ]   MMP13 [ SEEK ]   MMP13 [ MEM ]
Gene Expression Viewer (FireBrowse)MMP13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4322
GTEX Portal (Tissue expression)MMP13
Protein : pattern, domain, 3D structure
UniProt/SwissProtP45452   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP45452  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP45452
Splice isoforms : SwissVarP45452
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusP45452
Domaine pattern : Prosite (Expaxy)CYSTEINE_SWITCH (PS00546)    HEMOPEXIN (PS00024)    HEMOPEXIN_2 (PS51642)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Collagenase_3    Hemopexin-like_dom    Hemopexin-like_repeat    Hemopexin_CS    MetalloPept_cat_dom    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)MMP13
DMDM Disease mutations4322
Blocks (Seattle)MMP13
PDB (SRS)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
PDB (PDBSum)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
PDB (IMB)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
PDB (RSDB)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
Structural Biology KnowledgeBase1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
SCOP (Structural Classification of Proteins)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
CATH (Classification of proteins structures)1EUB    1FLS    1FM1    1PEX    1UC1    1XUC    1XUD    1XUR    1YOU    1ZTQ    2D1N    2E2D    2OW9    2OZR    2PJT    2YIG    3ELM    3I7G    3I7I    3KEC    3KEJ    3KEK    3KRY    3LJZ    3O2X    3TVC    3WV1    3WV2    3WV3    3ZXH    456C    4A7B    4FU4    4FVL    4G0D    4JP4    4JPA    4L19    5BOT    5BOY    5BPA    830C   
SuperfamilyP45452
Human Protein AtlasENSG00000137745
Peptide AtlasP45452
HPRD02522
IPIIPI00021738   IPI01011730   IPI00385287   
Protein Interaction databases
DIP (DOE-UCLA)P45452
IntAct (EBI)P45452
FunCoupENSG00000137745
BioGRIDMMP13
STRING (EMBL)MMP13
ZODIACMMP13
Ontologies - Pathways
QuickGOP45452
Ontology : AmiGOluteolysis  osteoblast differentiation  response to hypoxia  endochondral ossification  fibronectin binding  growth plate cartilage development  metalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  collagen binding  extracellular region  proteinaceous extracellular matrix  extracellular space  lysosome  Golgi apparatus  proteolysis  heart development  parturition  zinc ion binding  response to mechanical stimulus  extracellular matrix disassembly  extracellular matrix disassembly  bone mineralization  collagen catabolic process  collagen catabolic process  embryonic hindlimb morphogenesis  response to drug  peptide catabolic process  response to estrogen  cellular protein metabolic process  estrous cycle  intercellular canaliculus  calcium-dependent protein binding  low-density lipoprotein particle receptor binding  bone morphogenesis  cellular response to fluid shear stress  positive regulation of pancreatic trypsinogen secretion  
Ontology : EGO-EBIluteolysis  osteoblast differentiation  response to hypoxia  endochondral ossification  fibronectin binding  growth plate cartilage development  metalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  collagen binding  extracellular region  proteinaceous extracellular matrix  extracellular space  lysosome  Golgi apparatus  proteolysis  heart development  parturition  zinc ion binding  response to mechanical stimulus  extracellular matrix disassembly  extracellular matrix disassembly  bone mineralization  collagen catabolic process  collagen catabolic process  embryonic hindlimb morphogenesis  response to drug  peptide catabolic process  response to estrogen  cellular protein metabolic process  estrous cycle  intercellular canaliculus  calcium-dependent protein binding  low-density lipoprotein particle receptor binding  bone morphogenesis  cellular response to fluid shear stress  positive regulation of pancreatic trypsinogen secretion  
NDEx NetworkMMP13
Atlas of Cancer Signalling NetworkMMP13
Wikipedia pathwaysMMP13
Orthology - Evolution
OrthoDB4322
GeneTree (enSembl)ENSG00000137745
Phylogenetic Trees/Animal Genes : TreeFamMMP13
HOVERGENP45452
HOGENOMP45452
Homologs : HomoloGeneMMP13
Homology/Alignments : Family Browser (UCSC)MMP13
Gene fusions - Rearrangements
Fusion Cancer (Beijing)H19 [11p15.5]  -  MMP13 [11q22.2]  [FUSC002691]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMP13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMP13
dbVarMMP13
ClinVarMMP13
1000_GenomesMMP13 
Exome Variant ServerMMP13
ExAC (Exome Aggregation Consortium)MMP13 (select the gene name)
Genetic variants : HAPMAP4322
Genomic Variants (DGV)MMP13 [DGVbeta]
DECIPHER (Syndromes)11:102813721-102826463  ENSG00000137745
CONAN: Copy Number AnalysisMMP13 
Mutations
ICGC Data PortalMMP13 
TCGA Data PortalMMP13 
Broad Tumor PortalMMP13
OASIS PortalMMP13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMP13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMP13
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 MMP13
DgiDB (Drug Gene Interaction Database)MMP13
DoCM (Curated mutations)MMP13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMP13 (select a term)
intoGenMMP13
Cancer3DMMP13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600108    602111   
Orphanet1346    1346    2313    12287   
MedgenMMP13
Genetic Testing Registry MMP13
NextProtP45452 [Medical]
TSGene4322
GENETestsMMP13
Huge Navigator MMP13 [HugePedia]
snp3D : Map Gene to Disease4322
BioCentury BCIQMMP13
ClinGenMMP13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4322
Chemical/Pharm GKB GenePA30871
Clinical trialMMP13
Miscellaneous
canSAR (ICR)MMP13 (select the gene name)
Probes
Litterature
PubMed248 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMP13
EVEXMMP13
GoPubMedMMP13
iHOPMMP13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:10:49 CEST 2017

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