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ADAMTS4 (ADAM metallopeptidase with thrombospondin type 1 motif 4)

Identity

Alias_namesa disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif
Alias_symbol (synonym)KIAA0688
ADAMTS-2
ADMP-1
Other aliasADAMTS-4
HGNC (Hugo) ADAMTS4
LocusID (NCBI) 9507
Atlas_Id 47337
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161189729 and ends at 161199053 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)
ADAMTS4 (1q23.3) / ADAMTS4 (1q23.3)ADAMTS4 (1q23.3) / F2R (5q13.3)ADAMTS4 (1q23.3) / PDE6D (2q37.1)

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)ADAMTS4   220
Cards
Entrez_Gene (NCBI)ADAMTS4  9507  ADAM metallopeptidase with thrombospondin type 1 motif 4
AliasesADAMTS-2; ADAMTS-4; ADMP-1
GeneCards (Weizmann)ADAMTS4
Ensembl hg19 (Hinxton)ENSG00000158859 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158859 [Gene_View]  ENSG00000158859 [Sequence]  chr1:161189729-161199053 [Contig_View]  ADAMTS4 [Vega]
ICGC DataPortalENSG00000158859
TCGA cBioPortalADAMTS4
AceView (NCBI)ADAMTS4
Genatlas (Paris)ADAMTS4
WikiGenes9507
SOURCE (Princeton)ADAMTS4
Genetics Home Reference (NIH)ADAMTS4
Genomic and cartography
GoldenPath hg38 (UCSC)ADAMTS4  -     chr1:161189729-161199053 -  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADAMTS4  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblADAMTS4 - 1q23.3 [CytoView hg19]  ADAMTS4 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIADAMTS4 [Mapview hg19]  ADAMTS4 [Mapview hg38]
OMIM603876   
Gene and transcription
Genbank (Entrez)AA603151 AB014588 AF148213 AK291573 AL603427
RefSeq transcript (Entrez)NM_001320336 NM_005099
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ADAMTS4
Cluster EST : UnigeneHs.211604 [ NCBI ]
CGAP (NCI)Hs.211604
Alternative Splicing GalleryENSG00000158859
Gene ExpressionADAMTS4 [ NCBI-GEO ]   ADAMTS4 [ EBI - ARRAY_EXPRESS ]   ADAMTS4 [ SEEK ]   ADAMTS4 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9507
GTEX Portal (Tissue expression)ADAMTS4
Human Protein AtlasENSG00000158859-ADAMTS4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75173   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75173  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75173
Splice isoforms : SwissVarO75173
Catalytic activity : Enzyme3.4.24.82 [ Enzyme-Expasy ]   3.4.24.823.4.24.82 [ IntEnz-EBI ]   3.4.24.82 [ BRENDA ]   3.4.24.82 [ KEGG ]   
PhosPhoSitePlusO75173
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    TSP1 (PS50092)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ADAM_Cys-rich    ADAM_spacer1    MetalloPept_cat_dom_sf    Peptidase_M12B    Peptidase_M12B_N    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)ACR (SM00608)  TSP1 (SM00209)  
Conserved Domain (NCBI)ADAMTS4
DMDM Disease mutations9507
Blocks (Seattle)ADAMTS4
PDB (RSDB)2RJP    3B2Z    4WK7    4WKE    4WKI   
PDB Europe2RJP    3B2Z    4WK7    4WKE    4WKI   
PDB (PDBSum)2RJP    3B2Z    4WK7    4WKE    4WKI   
PDB (IMB)2RJP    3B2Z    4WK7    4WKE    4WKI   
Structural Biology KnowledgeBase2RJP    3B2Z    4WK7    4WKE    4WKI   
SCOP (Structural Classification of Proteins)2RJP    3B2Z    4WK7    4WKE    4WKI   
CATH (Classification of proteins structures)2RJP    3B2Z    4WK7    4WKE    4WKI   
SuperfamilyO75173
Human Protein Atlas [tissue]ENSG00000158859-ADAMTS4 [tissue]
Peptide AtlasO75173
HPRD04853
IPIIPI00307276   IPI00737789   IPI00386162   
Protein Interaction databases
DIP (DOE-UCLA)O75173
IntAct (EBI)O75173
FunCoupENSG00000158859
BioGRIDADAMTS4
STRING (EMBL)ADAMTS4
ZODIACADAMTS4
Ontologies - Pathways
QuickGOO75173
Ontology : AmiGOskeletal system development  protease binding  metalloendopeptidase activity  protein binding  extracellular region  extracellular space  proteolysis  peptidase activity  metallopeptidase activity  nuclear speck  extracellular matrix disassembly  metal ion binding  collagen-containing extracellular matrix  
Ontology : EGO-EBIskeletal system development  protease binding  metalloendopeptidase activity  protein binding  extracellular region  extracellular space  proteolysis  peptidase activity  metallopeptidase activity  nuclear speck  extracellular matrix disassembly  metal ion binding  collagen-containing extracellular matrix  
NDEx NetworkADAMTS4
Atlas of Cancer Signalling NetworkADAMTS4
Wikipedia pathwaysADAMTS4
Orthology - Evolution
OrthoDB9507
GeneTree (enSembl)ENSG00000158859
Phylogenetic Trees/Animal Genes : TreeFamADAMTS4
HOGENOMO75173
Homologs : HomoloGeneADAMTS4
Homology/Alignments : Family Browser (UCSC)ADAMTS4
Gene fusions - Rearrangements
Fusion : QuiverADAMTS4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAMTS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTS4
dbVarADAMTS4
ClinVarADAMTS4
1000_GenomesADAMTS4 
Exome Variant ServerADAMTS4
ExAC (Exome Aggregation Consortium)ENSG00000158859
GNOMAD BrowserENSG00000158859
Varsome BrowserADAMTS4
Genetic variants : HAPMAP9507
Genomic Variants (DGV)ADAMTS4 [DGVbeta]
DECIPHERADAMTS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADAMTS4 
Mutations
ICGC Data PortalADAMTS4 
TCGA Data PortalADAMTS4 
Broad Tumor PortalADAMTS4
OASIS PortalADAMTS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTS4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADAMTS4
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 ADAMTS4
DgiDB (Drug Gene Interaction Database)ADAMTS4
DoCM (Curated mutations)ADAMTS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTS4 (select a term)
intoGenADAMTS4
Cancer3DADAMTS4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603876   
Orphanet
DisGeNETADAMTS4
MedgenADAMTS4
Genetic Testing Registry ADAMTS4
NextProtO75173 [Medical]
TSGene9507
GENETestsADAMTS4
Target ValidationADAMTS4
Huge Navigator ADAMTS4 [HugePedia]
snp3D : Map Gene to Disease9507
BioCentury BCIQADAMTS4
ClinGenADAMTS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9507
Chemical/Pharm GKB GenePA24548
Clinical trialADAMTS4
Miscellaneous
canSAR (ICR)ADAMTS4 (select the gene name)
DataMed IndexADAMTS4
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTS4
EVEXADAMTS4
GoPubMedADAMTS4
iHOPADAMTS4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:16:21 CET 2019
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