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ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)

Identity

Alias (NCBI)ADAM-TS2
ADAMTS-2
ADAMTS-3
EDSDERMS
NPI
PC I-NP
PCI-NP
PCINP
PCPNI
PNPI
HGNC (Hugo) ADAMTS2
HGNC Alias symbADAMTS-3
hPCPNI
PCINP
ADAM-TS2
NPI
HGNC Alias nameprocollagen I N-proteinase
 procollagen N-endopeptidase
HGNC Previous namea disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
LocusID (NCBI) 9509
Atlas_Id 56454
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179150675 and ends at 179345461 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)
ACTR2 (2p14) / ADAMTS2 (5q35.3)ADAMTS2 (5q35.3) / RNF130 (5q35.3)ADAMTS2 (5q35.3) / RPL11 (1p36.11)
AKAP8L (19p13.12) / ADAMTS2 (5q35.3)SYN1 (Xp11.23) / ADAMTS2 (5q35.3)WBP1L (10q24.32) / ADAMTS2 (5q35.3)

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) [ 1 ]
  t(5;10)(q35;q24) WBP1L/ADAMTS2


External links

Nomenclature
HGNC (Hugo)ADAMTS2   218
Cards
Entrez_Gene (NCBI)ADAMTS2  9509  ADAM metallopeptidase with thrombospondin type 1 motif 2
AliasesADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS; 
NPI; PC; PCI-NP; PCINP; PCPNI; PNPI
GeneCards (Weizmann)ADAMTS2
Ensembl hg19 (Hinxton)ENSG00000087116 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087116 [Gene_View]  ENSG00000087116 [Sequence]  chr5:179150675-179345461 [Contig_View]  ADAMTS2 [Vega]
ICGC DataPortalENSG00000087116
TCGA cBioPortalADAMTS2
AceView (NCBI)ADAMTS2
Genatlas (Paris)ADAMTS2
WikiGenes9509
SOURCE (Princeton)ADAMTS2
Genetics Home Reference (NIH)ADAMTS2
Genomic and cartography
GoldenPath hg38 (UCSC)ADAMTS2  -     chr5:179150675-179345461 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADAMTS2  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathADAMTS2 - 5q35.3 [CytoView hg19]  ADAMTS2 - 5q35.3 [CytoView hg38]
ImmunoBaseENSG00000087116
genome Data Viewer NCBIADAMTS2 [Mapview hg19]  
OMIM225410   604539   
Gene and transcription
Genbank (Entrez)AI417257 AJ003125 AK308213 BC098581 BM512469
RefSeq transcript (Entrez)NM_014244 NM_021599
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ADAMTS2
Alternative Splicing GalleryENSG00000087116
Gene ExpressionADAMTS2 [ NCBI-GEO ]   ADAMTS2 [ EBI - ARRAY_EXPRESS ]   ADAMTS2 [ SEEK ]   ADAMTS2 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTS2 [ Firebrowse - Broad ]
GenevisibleExpression of ADAMTS2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9509
GTEX Portal (Tissue expression)ADAMTS2
Human Protein AtlasENSG00000087116-ADAMTS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95450   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95450  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95450
Splice isoforms : SwissVarO95450
Catalytic activity : Enzyme3.4.24.14 [ Enzyme-Expasy ]   3.4.24.143.4.24.14 [ IntEnz-EBI ]   3.4.24.14 [ BRENDA ]   3.4.24.14 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusO95450
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    PLAC (PS50900)    TSP1 (PS50092)   
Domains : Interpro (EBI)ADAM_CR_2    ADAM_spacer1    ADAMTS/ADAMTS-like    MetalloPept_cat_dom_sf    Pept_M12B_ADAM-TS2    Peptidase_M12B    Peptidase_M12B_N    PLAC    TSP1_rpt    TSP1_rpt_sf   
Domain families : Pfam (Sanger)ADAM_CR_2 (PF17771)    ADAM_spacer1 (PF05986)    Pep_M12B_propep (PF01562)    Reprolysin (PF01421)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam17771    pfam05986    pfam01562    pfam01421    pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
Conserved Domain (NCBI)ADAMTS2
DMDM Disease mutations9509
Blocks (Seattle)ADAMTS2
SuperfamilyO95450
Human Protein Atlas [tissue]ENSG00000087116-ADAMTS2 [tissue]
Peptide AtlasO95450
HPRD05173
IPIIPI00030757   IPI00012366   
Protein Interaction databases
DIP (DOE-UCLA)O95450
IntAct (EBI)O95450
FunCoupENSG00000087116
BioGRIDADAMTS2
STRING (EMBL)ADAMTS2
ZODIACADAMTS2
Ontologies - Pathways
QuickGOO95450
Ontology : AmiGOmetalloendopeptidase activity  metalloendopeptidase activity  extracellular region  spermatogenesis  metallopeptidase activity  zinc ion binding  protein processing  extracellular matrix organization  collagen fibril organization  lung development  collagen catabolic process  extracellular matrix  skin development  collagen-containing extracellular matrix  
Ontology : EGO-EBImetalloendopeptidase activity  metalloendopeptidase activity  extracellular region  spermatogenesis  metallopeptidase activity  zinc ion binding  protein processing  extracellular matrix organization  collagen fibril organization  lung development  collagen catabolic process  extracellular matrix  skin development  collagen-containing extracellular matrix  
NDEx NetworkADAMTS2
Atlas of Cancer Signalling NetworkADAMTS2
Wikipedia pathwaysADAMTS2
Orthology - Evolution
OrthoDB9509
GeneTree (enSembl)ENSG00000087116
Phylogenetic Trees/Animal Genes : TreeFamADAMTS2
HOGENOMO95450
Homologs : HomoloGeneADAMTS2
Homology/Alignments : Family Browser (UCSC)ADAMTS2
Gene fusions - Rearrangements
Fusion : QuiverADAMTS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAMTS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTS2
dbVarADAMTS2
ClinVarADAMTS2
MonarchADAMTS2
1000_GenomesADAMTS2 
Exome Variant ServerADAMTS2
GNOMAD BrowserENSG00000087116
Varsome BrowserADAMTS2
Genetic variants : HAPMAP9509
Genomic Variants (DGV)ADAMTS2 [DGVbeta]
DECIPHERADAMTS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADAMTS2 
Mutations
ICGC Data PortalADAMTS2 
TCGA Data PortalADAMTS2 
Broad Tumor PortalADAMTS2
OASIS PortalADAMTS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DADAMTS2
Mutations and Diseases : HGMDADAMTS2
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 ADAMTS2
DgiDB (Drug Gene Interaction Database)ADAMTS2
DoCM (Curated mutations)ADAMTS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTS2 (select a term)
intoGenADAMTS2
Cancer3DADAMTS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM225410    604539   
Orphanet4045   
DisGeNETADAMTS2
MedgenADAMTS2
Genetic Testing Registry ADAMTS2
NextProtO95450 [Medical]
TSGene9509
GENETestsADAMTS2
Target ValidationADAMTS2
Huge Navigator ADAMTS2 [HugePedia]
snp3D : Map Gene to Disease9509
BioCentury BCIQADAMTS2
ClinGenADAMTS2
Clinical trials, drugs, therapy
Protein Interactions : CTD9509
Pharm GKB GenePA24546
Clinical trialADAMTS2
Miscellaneous
canSAR (ICR)ADAMTS2 (select the gene name)
HarmonizomeADAMTS2
DataMed IndexADAMTS2
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTS2
EVEXADAMTS2
GoPubMedADAMTS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:00:29 CEST 2020

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