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MMP20 (matrix metallopeptidase 20)

Identity

Alias_namesmatrix metalloproteinase 20 (enamelysin)
HGNC (Hugo) MMP20
LocusID (NCBI) 9313
Atlas_Id 41397
Location 11q22.2  [Link to chromosome band 11q22]
Location_base_pair Starts at 102447566 and ends at 102496063 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TMEM123 (11q22.2) / MMP20 (11q22.2)TYR (11q14.3) / MMP20 (11q22.2)TMEM123 11q22.2 / MMP20 11q22.2
TYR 11q14.3 / MMP20 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)MMP20   7167
Cards
Entrez_Gene (NCBI)MMP20  9313  matrix metallopeptidase 20
AliasesAI2A2; MMP-20
GeneCards (Weizmann)MMP20
Ensembl hg19 (Hinxton)ENSG00000137674 [Gene_View]  chr11:102447566-102496063 [Contig_View]  MMP20 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137674 [Gene_View]  chr11:102447566-102496063 [Contig_View]  MMP20 [Vega]
ICGC DataPortalENSG00000137674
TCGA cBioPortalMMP20
AceView (NCBI)MMP20
Genatlas (Paris)MMP20
WikiGenes9313
SOURCE (Princeton)MMP20
Genetics Home Reference (NIH)MMP20
Genomic and cartography
GoldenPath hg19 (UCSC)MMP20  -     chr11:102447566-102496063 -  11q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMP20  -     11q22.2   [Description]    (hg38-Dec_2013)
EnsemblMMP20 - 11q22.2 [CytoView hg19]  MMP20 - 11q22.2 [CytoView hg38]
Mapping of homologs : NCBIMMP20 [Mapview hg19]  MMP20 [Mapview hg38]
OMIM604629   612529   
Gene and transcription
Genbank (Entrez)AJ296177 BC152741 Y12779
RefSeq transcript (Entrez)NM_004771
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_012151 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)MMP20
Cluster EST : UnigeneHs.591946 [ NCBI ]
CGAP (NCI)Hs.591946
Alternative Splicing GalleryENSG00000137674
Gene ExpressionMMP20 [ NCBI-GEO ]   MMP20 [ EBI - ARRAY_EXPRESS ]   MMP20 [ SEEK ]   MMP20 [ MEM ]
Gene Expression Viewer (FireBrowse)MMP20 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9313
GTEX Portal (Tissue expression)MMP20
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60882   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60882  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60882
Splice isoforms : SwissVarO60882
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusO60882
Domaine pattern : Prosite (Expaxy)CYSTEINE_SWITCH (PS00546)    HEMOPEXIN_2 (PS51642)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Hemopexin-like_dom    Hemopexin-like_repeat    MetalloPept_cat_dom    MMP20    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)MMP20
DMDM Disease mutations9313
Blocks (Seattle)MMP20
PDB (SRS)2JSD   
PDB (PDBSum)2JSD   
PDB (IMB)2JSD   
PDB (RSDB)2JSD   
Structural Biology KnowledgeBase2JSD   
SCOP (Structural Classification of Proteins)2JSD   
CATH (Classification of proteins structures)2JSD   
SuperfamilyO60882
Human Protein AtlasENSG00000137674
Peptide AtlasO60882
HPRD05218
IPIIPI00032404   
Protein Interaction databases
DIP (DOE-UCLA)O60882
IntAct (EBI)O60882
FunCoupENSG00000137674
BioGRIDMMP20
STRING (EMBL)MMP20
ZODIACMMP20
Ontologies - Pathways
QuickGOO60882
Ontology : AmiGOmetalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  proteolysis  zinc ion binding  extracellular matrix disassembly  protein catabolic process  collagen catabolic process  regulation of enamel mineralization  amelogenesis  
Ontology : EGO-EBImetalloendopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  extracellular space  proteolysis  zinc ion binding  extracellular matrix disassembly  protein catabolic process  collagen catabolic process  regulation of enamel mineralization  amelogenesis  
NDEx NetworkMMP20
Atlas of Cancer Signalling NetworkMMP20
Wikipedia pathwaysMMP20
Orthology - Evolution
OrthoDB9313
GeneTree (enSembl)ENSG00000137674
Phylogenetic Trees/Animal Genes : TreeFamMMP20
HOVERGENO60882
HOGENOMO60882
Homologs : HomoloGeneMMP20
Homology/Alignments : Family Browser (UCSC)MMP20
Gene fusions - Rearrangements
Fusion : MitelmanTMEM123/MMP20 [11q22.2/11q22.2]  [t(11;11)(q22;q22)]  
Fusion : MitelmanTYR/MMP20 [11q14.3/11q22.2]  [t(11;11)(q14;q22)]  
Fusion: TCGATMEM123 11q22.2 MMP20 11q22.2 BRCA LUAD
Fusion: TCGATYR 11q14.3 MMP20 11q22.2 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMP20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMP20
dbVarMMP20
ClinVarMMP20
1000_GenomesMMP20 
Exome Variant ServerMMP20
ExAC (Exome Aggregation Consortium)MMP20 (select the gene name)
Genetic variants : HAPMAP9313
Genomic Variants (DGV)MMP20 [DGVbeta]
DECIPHER (Syndromes)11:102447566-102496063  ENSG00000137674
CONAN: Copy Number AnalysisMMP20 
Mutations
ICGC Data PortalMMP20 
TCGA Data PortalMMP20 
Broad Tumor PortalMMP20
OASIS PortalMMP20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMP20  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMP20
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 MMP20
DgiDB (Drug Gene Interaction Database)MMP20
DoCM (Curated mutations)MMP20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMP20 (select a term)
intoGenMMP20
Cancer3DMMP20(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604629    612529   
Orphanet14606   
MedgenMMP20
Genetic Testing Registry MMP20
NextProtO60882 [Medical]
TSGene9313
GENETestsMMP20
Huge Navigator MMP20 [HugePedia]
snp3D : Map Gene to Disease9313
BioCentury BCIQMMP20
ClinGenMMP20
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9313
Chemical/Pharm GKB GenePA30878
Clinical trialMMP20
Miscellaneous
canSAR (ICR)MMP20 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMP20
EVEXMMP20
GoPubMedMMP20
iHOPMMP20
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:44:43 CET 2016

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