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ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3)

Identity

Alias_namesa disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif
Alias_symbol (synonym)KIAA0366
ADAMTS-4
Other aliasHKLLS3
HGNC (Hugo) ADAMTS3
LocusID (NCBI) 9508
Atlas_Id 47092
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 72280969 and ends at 72568799 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)
ADAMTS3 (4q13.3) / N4BP2L2 (13q13.1)ADAMTS3 (4q13.3) / SNX30 (9q32)N4BP2L2 (13q13.1) / ADAMTS3 (4q13.3)
SNX30 (9q32) / ADAMTS3 (4q13.3)YTHDC1 (4q13.2) / ADAMTS3 (4q13.3)YTHDC1 4q13.2 / ADAMTS3 4q13.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Lung: Translocations in Squamous Cell Carcinoma
YTHDC1/ADAMTS3 (4q13)
t(4;9)(q13;q32) SNX30/ADAMTS3
t(4;9)(q13;q32) ADAMTS3/SNX30

External links

Nomenclature
HGNC (Hugo)ADAMTS3   219
Cards
Entrez_Gene (NCBI)ADAMTS3  9508  ADAM metallopeptidase with thrombospondin type 1 motif 3
AliasesADAMTS-4; HKLLS3
GeneCards (Weizmann)ADAMTS3
Ensembl hg19 (Hinxton)ENSG00000156140 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156140 [Gene_View]  ENSG00000156140 [Sequence]  chr4:72280969-72568799 [Contig_View]  ADAMTS3 [Vega]
ICGC DataPortalENSG00000156140
TCGA cBioPortalADAMTS3
AceView (NCBI)ADAMTS3
Genatlas (Paris)ADAMTS3
WikiGenes9508
SOURCE (Princeton)ADAMTS3
Genetics Home Reference (NIH)ADAMTS3
Genomic and cartography
GoldenPath hg38 (UCSC)ADAMTS3  -     chr4:72280969-72568799 -  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADAMTS3  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblADAMTS3 - 4q13.3 [CytoView hg19]  ADAMTS3 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIADAMTS3 [Mapview hg19]  ADAMTS3 [Mapview hg38]
OMIM605011   618154   
Gene and transcription
Genbank (Entrez)AB002364 AF247668 AK295131 BC016451 BC019707
RefSeq transcript (Entrez)NM_014243
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ADAMTS3
Cluster EST : UnigeneHs.590919 [ NCBI ]
CGAP (NCI)Hs.590919
Alternative Splicing GalleryENSG00000156140
Gene ExpressionADAMTS3 [ NCBI-GEO ]   ADAMTS3 [ EBI - ARRAY_EXPRESS ]   ADAMTS3 [ SEEK ]   ADAMTS3 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9508
GTEX Portal (Tissue expression)ADAMTS3
Human Protein AtlasENSG00000156140-ADAMTS3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15072   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15072  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15072
Splice isoforms : SwissVarO15072
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusO15072
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    PLAC (PS50900)    TSP1 (PS50092)   
Domains : Interpro (EBI)ADAM_spacer1    MetalloPept_cat_dom_sf    Peptidase_M12B    Peptidase_M12B_N    PLAC    TSP1_rpt    TSP1_rpt_sf   
Domain families : Pfam (Sanger)ADAM_spacer1 (PF05986)    Pep_M12B_propep (PF01562)    Reprolysin (PF01421)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam05986    pfam01562    pfam01421    pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
Conserved Domain (NCBI)ADAMTS3
DMDM Disease mutations9508
Blocks (Seattle)ADAMTS3
SuperfamilyO15072
Human Protein Atlas [tissue]ENSG00000156140-ADAMTS3 [tissue]
Peptide AtlasO15072
HPRD06893
IPIIPI00307729   
Protein Interaction databases
DIP (DOE-UCLA)O15072
IntAct (EBI)O15072
FunCoupENSG00000156140
BioGRIDADAMTS3
STRING (EMBL)ADAMTS3
ZODIACADAMTS3
Ontologies - Pathways
QuickGOO15072
Ontology : AmiGOendopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  extracellular region  extracellular space  heparin binding  zinc ion binding  vascular endothelial growth factor production  protein processing  collagen fibril organization  collagen fibril organization  collagen catabolic process  extracellular matrix  collagen biosynthetic process  collagen-containing extracellular matrix  extracellular exosome  supramolecular fiber organization  positive regulation of vascular endothelial growth factor signaling pathway  
Ontology : EGO-EBIendopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  extracellular region  extracellular space  heparin binding  zinc ion binding  vascular endothelial growth factor production  protein processing  collagen fibril organization  collagen fibril organization  collagen catabolic process  extracellular matrix  collagen biosynthetic process  collagen-containing extracellular matrix  extracellular exosome  supramolecular fiber organization  positive regulation of vascular endothelial growth factor signaling pathway  
NDEx NetworkADAMTS3
Atlas of Cancer Signalling NetworkADAMTS3
Wikipedia pathwaysADAMTS3
Orthology - Evolution
OrthoDB9508
GeneTree (enSembl)ENSG00000156140
Phylogenetic Trees/Animal Genes : TreeFamADAMTS3
HOVERGENO15072
HOGENOMO15072
Homologs : HomoloGeneADAMTS3
Homology/Alignments : Family Browser (UCSC)ADAMTS3
Gene fusions - Rearrangements
Fusion : MitelmanADAMTS3/SNX30 [4q13.3/9q32]  
Fusion : MitelmanSNX30/ADAMTS3 [9q32/4q13.3]  [t(4;9)(q13;q32)]  
Fusion : MitelmanYTHDC1/ADAMTS3 [4q13.2/4q13.3]  [t(4;4)(q13;q13)]  
Fusion PortalYTHDC1 4q13.2 ADAMTS3 4q13.3 LUSC
Fusion : QuiverADAMTS3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAMTS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTS3
dbVarADAMTS3
ClinVarADAMTS3
1000_GenomesADAMTS3 
Exome Variant ServerADAMTS3
ExAC (Exome Aggregation Consortium)ENSG00000156140
GNOMAD BrowserENSG00000156140
Varsome BrowserADAMTS3
Genetic variants : HAPMAP9508
Genomic Variants (DGV)ADAMTS3 [DGVbeta]
DECIPHERADAMTS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADAMTS3 
Mutations
ICGC Data PortalADAMTS3 
TCGA Data PortalADAMTS3 
Broad Tumor PortalADAMTS3
OASIS PortalADAMTS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTS3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADAMTS3
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 ADAMTS3
DgiDB (Drug Gene Interaction Database)ADAMTS3
DoCM (Curated mutations)ADAMTS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTS3 (select a term)
intoGenADAMTS3
Cancer3DADAMTS3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605011    618154   
Orphanet
DisGeNETADAMTS3
MedgenADAMTS3
Genetic Testing Registry ADAMTS3
NextProtO15072 [Medical]
TSGene9508
GENETestsADAMTS3
Target ValidationADAMTS3
Huge Navigator ADAMTS3 [HugePedia]
snp3D : Map Gene to Disease9508
BioCentury BCIQADAMTS3
ClinGenADAMTS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9508
Chemical/Pharm GKB GenePA24547
Clinical trialADAMTS3
Miscellaneous
canSAR (ICR)ADAMTS3 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTS3
EVEXADAMTS3
GoPubMedADAMTS3
iHOPADAMTS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:49:47 CET 2018
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