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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADAMTS4 Gene

protein-coding   GIFtS: 65
GCID: GC01M161159

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 41 2     ADAMTS-22
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 41 2
     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 42
ADAM-TS42 3     aggrecanase-12
ADAMTS-42 3     Aggrecanase-13
ADMP-12 3     KIAA06883
ADAM-TS 42 3     EC 3.4.248
EC 3.4.24.823 8     

External Ids:    HGNC: 2201   Entrez Gene: 95072   Ensembl: ENSG000001588597   OMIM: 6038765   UniProtKB: O751733   

Export aliases for ADAMTS4 gene to outside databases

Previous GC identifers: GC01M158870 GC01M156891 GC01M157937 GC01M158376 GC01M157972 GC01M159426 GC01M132516


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADAMTS4 Gene:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein
family. Members of the family share several distinct protein modules, including a propeptide region, a
metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members
of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme
encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major
proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan
and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system,
potentially, in the progression of glioma. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTS4 Gene: 
ADAMTS4 (ADAM metallopeptidase with thrombospondin type 1 motif, 4) is a protein-coding gene. Diseases associated with ADAMTS4 include lumbar disc herniation, and cerebral artery occlusion, and among its related super-pathways are Cell adhesion ECM remodeling. GO annotations related to this gene include metalloendopeptidase activity and protease binding. An important paralog of this gene is ADAMTS17.

UniProtKB/Swiss-Prot: ATS4_HUMAN, O75173
Function: Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important
role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of
neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu- -Ala-393' site

Gene Wiki entry for ADAMTS4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAMTS4 gene promoter:
         E2F-4   E2F-3a   E2F-5   MyoD   CUTL1   E2F-2   PPAR-gamma1   E2F   E2F-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAMTS4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTS4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21-q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q31-q32

ADAMTS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161159:  view genomic region     (about GC identifiers)

Start:
161,159,538 bp from pter      End:
161,168,846 bp from pter
Size:
9,309 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ATS4_HUMAN, O75173 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 4 precursor  
Size: 837 amino acids; 90197 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Interacts with SRPX2
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Caution: Has sometimes been referred to as ADAMTS2
Sequence caution: Sequence=BAA31663.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for ADAMTS4:
2RJP (3D)        3B2Z (3D)    
Secondary accessions: Q5VTW2 Q6P4Q8 Q6UWA8 Q9UN83

Explore the universe of human proteins at neXtProt for ADAMTS4: NX_O75173

Explore proteomics data for ADAMTS4 at MOPED 

Post-translational modifications:

  • UniProtKB: The precursor is cleaved by a furin endopeptidase
  • UniProtKB: Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus
    sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine
    residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a
    beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of
    ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within
    the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate
    secretion (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75173

  • 4/22 DME Specific Peptides for ADAMTS4 (O75173) (see all 22)
     MLHDNSK  DYDADRQ  RYSFFVP  PWGDCSR 

    ADAMTS4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADAMTS4 Protein Expression
    REFSEQ proteins: NP_005090.3  
    ENSEMBL proteins: 
     ENSP00000356975   ENSP00000356974  

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    Cloud-Clone Corp. Proteins for ADAMTS4 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA14744861
    GO:0031012extracellular matrix ----

    ADAMTS4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ADAMTS: ADAM metallopeptidases with thrombospondin type 1 motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS4 
    ADAMTS family

    5/6 InterPro protein domains (see all 6):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR010294 ADAM_spacer1
     IPR001590 Peptidase_M12B
     IPR002870 Peptidase_M12B_N

    Graphical View of Domain Structure for InterPro Entry O75173

    ProtoNet protein and cluster: O75173

    4 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001762 Disintegrin
    IPB008085 Thrombospondin type 1 repeat signature
    IPB010294 ADAM-TS Spacer 1


    UniProtKB/Swiss-Prot: ATS4_HUMAN, O75173
    Domain: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular
    matrix
    Domain: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting
    the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the
    enzyme
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 1 TSP type-1 domain


    ADAMTS4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS4_HUMAN, O75173
    Function: Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important
    role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of
    neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu- -Ala-393' site
    Catalytic activity: Glutamyl endopeptidase; bonds cleaved include 370-Thr-Glu-Gly-Glu- -Ala-Arg-Gly-Ser-377 in the
    interglobular domain of mammalian aggrecan
    Induction: By IL1/interleukin-1

         Genatlas biochemistry entry for ADAMTS4:
    a disintegrin-like and metalloprotease domain (reprolysin type),aggrecanase 1,with thrombospondin type 1 motif
    4,potentially degrading aggrecan in arthritis disease,extracellular matrix protein

         Enzyme Numbers (IUBMB): EC 3.4.24.821 2 EC 3.4.242

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI14744861
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI18718938
    GO:0008233peptidase activity TAS10751421
    GO:0008237metallopeptidase activity TAS10356395
         
    ADAMTS4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTS4:
     Proliferating cells 

         7 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Adamts4):
     behavior/neurological  mortality/aging  nervous system  no phenotypic analysis  normal 
     renal/urinary system  skeleton 

    ADAMTS4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ADAMTS4: Adamts4tm1Dqp Adamts4tm1.1Boer Adamts4tm1.1Lex Adamts4tm1.1Eam

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADAMTS4 
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    SwitchGear 3'UTR luciferase reporter plasmidADAMTS4 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ADAMTS4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    2Endochondral Ossification
    Endochondral Ossification
    3Notch Signaling Pathway
    Notch Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ADAMTS4
        Metalloproteases in connective tissue degradation


    1 BioSystems Pathway for ADAMTS4
        Endochondral Ossification

    1 Sino Biological Pathway for ADAMTS4 
        Notch Signaling Pathway



    ADAMTS4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADAMTS4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for ADAMTS4 (O751733 ENSP000003569754) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FURINP099583, ENSP000002681714I2D: score=2 STRING: ENSP00000268171
    SERPINA1P010093, ENSP000003480684I2D: score=2 STRING: ENSP00000348068
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    MT2AP027953, ENSP000002451854I2D: score=1 STRING: ENSP00000245185
    SRPX2O606873, ENSP000003620954I2D: score=1 STRING: ENSP00000362095
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10356395
    GO:0006508proteolysis IEA--

    ADAMTS4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADAMTS4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for ADAMTS4

    Browse Tocris compounds for ADAMTS4 (ATS4)

    7 Novoseek inferred chemical compound relationships for ADAMTS4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 67.3 11 16507336 (1), 11817583 (1), 17208315 (1), 17763444 (1) (see all 6)
    chondroitin sulfate 50.3 18 16945513 (7), 10751421 (1), 10998358 (1), 14701864 (1)
    glucosamine 36.2 2 16300972 (1)
    pge2 32.2 4 19786147 (2), 20133709 (1), 18438860 (1)
    tgf beta1 30.9 2 15599946 (1), 15883123 (1)
    nitric oxide 8.02 3 16806998 (1), 15922185 (1), 17605605 (1)
    heparin 0 1 18156631 (1)

    Search CenterWatch for drugs/clinical trials and news about ADAMTS4 / ATS4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADAMTS4 gene: 
    NM_005099.4  

    Unigene Cluster for ADAMTS4:

    ADAM metallopeptidase with thrombospondin type 1 motif, 4
    Hs.211604  [show with all ESTs]
    Unigene Representative Sequence: NM_005099
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367996(uc001fyt.4) ENST00000478394 ENST00000367995(uc001fyu.2)


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    Additional mRNA sequence: 

    AB014588.1 AF148213.1 AK291573.1 AY358886.1 BC063293.1 DQ364570.1 

    5 DOTS entries:

    DT.40295660  DT.403409  DT.97766329  DT.100707470  DT.92419173 

    24/33 AceView cDNA sequences (see all 33):

    BC030812 AI678879 AA603151 AY358886 BF771897 NM_005099 AI682879 AB014588 
    AL712592 BC063293 BM069747 BP349742 BI602707 BX503840 AF148213 BP342809 
    BG704864 AL603427 CD619814 BQ694677 CD619809 BM069515 CD619811 D45652 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                      -           -                     
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for ADAMTS4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADAMTS4 expression in normal human tissues (normalized intensities)      ADAMTS4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTGAGCA
    ADAMTS4 Expression
    About this image


    ADAMTS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See ADAMTS4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAMTS4

    SOURCE GeneReport for Unigene cluster: Hs.211604

    UniProtKB/Swiss-Prot: ATS4_HUMAN, O75173
    Tissue specificity: Expressed in brain, lung and heart. Expressed at very low level in placenta and skeletal
    muscles

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ADAMTS4 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts41 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 87.3(n)1
    90.99(a)1
      1 (79.28 cM)5
    2409131  NM_172845.21  NP_766433.11 
     1712504215 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTS46
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343781.1(132828-144569)


    ENSEMBL Gene Tree for ADAMTS4 (if available)
    TreeFam Gene Tree for ADAMTS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAMTS4 gene
    ADAMTS172  ADAMTS12  ADAMTS182  ADAMTS192  ADAMTS62  ADAMTS142  ADAMTS22  ADAMTS202  
    ADAMTS52  ADAMTS152  ADAMTS92  ADAMTS82  ADAMTS162  ADAMTS32  ADAMTS102  
    13 SIMAP similar genes for ADAMTS4 using alignment to 3 protein entries:     ATS4_HUMAN (see all proteins):
    ADAMTS5    ADAMTS9    ADAMTS20    ADAMTS15    ADAMTS8    ADAMTS1
    ADAMTS3    DKFZp686E01144    ADAMTS6    ADAMTS10    ADAMTS12    ADAMTS16
    ADAMTS2

    ADAMTS4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/272 SNPs in ADAMTS4 are shown (see all 272)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0570734
    ----see VAR_0570732 A T mis40--------
    VAR_0306364
    ----see VAR_0306362 T I mis40--------
    rs1932384241,2
    --161159050(+) GAGCAA/TTCTAA 1 -- ds50010--------
    rs768689181,2
    F--161159127(+) AGACCC/TGCTGG 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs42333661,2
    C,F,A,H--161159147(+) CAGTGC/TTCTTT 1 -- ds500124Minor allele frequency- T:0.42NS EA NA CSA WA 2920
    rs115835891,2
    C,A,H--161159158(+) ctactG/TTTGTG 1 -- ds50012Minor allele frequency- T:0.12NA 122
    rs1476388281,2
    C--161159274(+) CAATTC/GTATTT 1 -- ds50010--------
    rs1423132681,2
    --161159288(+) GCCACA/GTGCTT 1 -- ds50010--------
    rs1445192511,2
    C--161159411(+) CCTGAA/GGATAA 1 -- ds50010--------
    rs361231041,2
    C,F,H--161159435(+) GGTTGT/CGGATC 1 -- ds500118Minor allele frequency- C:0.08NS EA NA WA 2342

    HapMap Linkage Disequilibrium report for ADAMTS4 (161159538 - 161168846 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ADAMTS4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv32799CNV Gain17666407

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603876    OMIM disorders: --

    18 diseases for ADAMTS4:    About MalaCards
    lumbar disc herniation    cerebral artery occlusion    chondrosarcoma    ehlers-danlos syndrome
    osteoarthritis    glioblastoma    acute myocardial infarction    arthritis
    myocardial infarction    rheumatoid arthritis    cerebritis    multiple sclerosis
    hypoxia    schizophrenia    alzheimer's disease    sarcoma
    hepatocellular carcinoma    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for ADAMTS4:
    Osteoarthritis     Ehlers-Danlos syndrome

    ADAMTS4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/11 Novoseek inferred disease relationships for ADAMTS4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoarthritis 77.5 20 18328163 (3), 11801682 (1), 16099106 (1), 17470431 (1) (see all 11)
    arthritis 53.6 8 11311239 (1), 17487981 (1), 18247274 (1), 10827174 (1) (see all 6)
    chondrosarcoma 41.4 3 11796708 (1), 14701864 (1)
    necrosis 33.1 4 17968946 (1), 16806998 (1), 11520168 (1), 15880812 (1)
    rheumatoid arthritis 29.7 6 11801682 (1), 16099106 (1), 15161923 (1), 14534304 (1)
    glioblastoma 27.2 4 16003758 (3)
    glioma 13.5 2 11217446 (1)
    pathological processes 7.42 1 15334469 (1)
    cancer 3.32 2 19260128 (1), 17355265 (1)
    leukemia 0 2 15641077 (1), 16806998 (1)

    Genetic Association Database (GAD): ADAMTS4
    Human Genome Epidemiology (HuGE) Navigator: ADAMTS4 (2 documents)

    Export disorders for ADAMTS4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ADAMTS4 gene, integrated from 9 sources (see all 170):
    (articles sorted by number of sources associating them with ADAMTS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The thrombospondin motif of aggrecanase-1 (ADAMTS-4) is critical for aggrecan substrate recognition and cleavage. (PubMed id 10827174)1, 2, 9 Tortorella M.D.... Arner E.C. (2000)
    2. Purification and cloning of aggrecanase-1: a member of the ADAMTS family of proteins. (PubMed id 10356395)1, 2, 9 Tortorella M.D.... Arner E.C. (1999)
    3. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (2009)
    4. Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. (PubMed id 18718938)1, 2 Royer-Zemmour B....Szepetowski P. (2008)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    9. ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. (PubMed id 10094461)1, 3 Tang B.L. and Hong W. (1999)
    10. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9507 HGNC: 220 AceView: ADAMTS4 Ensembl:ENSG00000158859 euGenes: HUgn9507
    ECgene: ADAMTS4 H-InvDB: ADAMTS4

    (According to HUGE)
    About This Section
    HUGE: KIAA0688

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADAMTS4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADAMTS4 gene:
    Search GeneIP for patents involving ADAMTS4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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