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

ADAMTS18 Gene

protein-coding   GIFtS: 53
GCID: GC16M077316

ADAM metallopeptidase with thrombospondin type 1 motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
(Previous symbol: ADAMTS21)
 Explore 18 diseases affiliated with
ADAMTS18 via our new
 Human Malady Compendium 
Biological research products
for ADAMTS18
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 181 2     Disintegrin And Metalloprotease-Like Protein2
ADAMTS211 2 3     ADAM-TS183
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin
Type 1 Motif, 181 2
     ADAMTS-183
KNO22     EC 3.4.24.-3
A Disintegrin And Metalloproteinase With Thrombospondin Motifs 182     ADAM-TS 183
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin
Type 1 Motif, 212
     EC 3.4.24.828

External Ids:    HGNC: 171101   Entrez Gene: 1706922   Ensembl: ENSG000001408737   OMIM: 6075125   UniProtKB: Q8TE603   

Export aliases for ADAMTS18 gene to outside databases

Previous GC identifers: GC16M068256 GC16M078287 GC16M077065 GC16M077106 GC16M077095 GC16M075873 GC16M063072


(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 ADAMTS18:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein
family. ADAMTS family members 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 protein encoded
by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is
thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their
biological validity has not been determined. (provided by RefSeq, Jul 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAMTS18 gene promoter:
         Pax-5   RREB-1   HNF-1A   C/EBPalpha   CHOP-10   MEF-2A   MZF-1   Nkx6-1   HNF-1   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ADAMTS18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTS18


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

Entrez Gene cytogenetic band: 16q23   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q23

ADAMTS18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS18 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M077316:  view genomic region     (about GC identifiers)

Start:
77,281,710 bp from pter      End:
77,469,011 bp from pter
Size:
187,302 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATS18_HUMAN, Q8TE60 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 18 precursor  
Size: 1221 amino acids; 135167 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Sequence caution: Sequence=BAC85503.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAC83612.1; Type=Miscellaneous discrepancy; Note=Probable intron retention; Sequence=CAC83612.1;
Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q6P4R5 Q6ZWJ9
Alternative splicing: 2 isoforms:  Q8TE60-1   Q8TE60-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAMTS18: NX_Q8TE60

Post-translational modifications:

  • The precursor is cleaved by a furin endopeptidase (By similarity)1
  • 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)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TE60

  • 2 DME Specific Peptides for ADAMTS18 (Q8TE60)
     VETLVVAD  CSRTCGGGV 

    ADAMTS18 Protein expression data from MOPED and PaxDb:    About this image 
    ADAMTS18 Protein Expression
    REFSEQ proteins: NP_955387.1  
    ENSEMBL proteins: 
     ENSP00000454368   ENSP00000282849   ENSP00000392540   ENSP00000457395  

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    Uscn Proteins for ADAMTS18

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    ADAMTS18 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ADAMTS18 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR010294 ADAM_spacer1
     IPR010909 PLAC
     IPR001590 Peptidase_M12B

    Graphical View of Domain Structure for InterPro Entry Q8TE60

    ProtoNet protein and cluster: Q8TE60

    5 Blocks protein families:
    IPB000884 Thrombospondin
    IPB001762 Disintegrin
    IPB002870 Metalloendopeptidase M12B
    IPB008085 Thrombospondin type 1 repeat signature
    IPB010294 ADAM-TS Spacer 1


    UniProtKB/Swiss-Prot: ATS18_HUMAN, Q8TE60
    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 PLAC domain
    Similarity: Contains 5 TSP type-1 domains


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

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.822

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    ADAMTS18 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ADAMTS18:
     Large cells  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Adamts18):
     reproductive system 

    ADAMTS18 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ADAMTS18 

    miRNA
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    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-4272 hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS18 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS18


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADAMTS18

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ADAMTS18 (ENSP000002828494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VEGFAENSP000003611254STRING: ENSP00000361125
    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:0006508proteolysis IEA--
    GO:0007229integrin-mediated signaling pathway ----

    ADAMTS18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADAMTS18
    Search CenterWatch for drugs/clinical trials and news about ADAMTS18 / ATS18 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADAMTS18 gene (2 alternative transcripts): 
    NM_199355.2  NM_139054.2  

    Unigene Cluster for ADAMTS18:

    ADAM metallopeptidase with thrombospondin type 1 motif, 18
    Hs.188746  [show with all ESTs]
    Unigene Representative Sequence: NM_199355
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562332 ENST00000282849(uc010chc.1 uc002ffe.1 uc002ffc.4 uc010vni.1)
    ENST00000568393 ENST00000449265 ENST00000562345 ENST00000567914 ENST00000567121
    ENST00000564369 ENST00000569309

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    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-4272 hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS18 3' UTR sequence
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    Additional cDNA sequence: 

    AF086229.1 AJ311903.1 AK122677.1 AK131403.1 AK293831.1 AY172951.1 BC063283.1 

    6 DOTS entries:

    DT.100654716  DT.102821110  DT.86855978  DT.440443  DT.100739731  DT.40315579 

    24/52 AceView cDNA sequences (see all 52):

    AF086229 BE467873 Z41124 BM684970 Z45412 BC063283 BE551244 AA902183 
    BM931923 NM_199355 AA369130 BE467894 BE219281 NM_139054 AW444896 AK122677 
    W56603 CD636665 CD636667 AI890308 BX434008 AK131403 AI733120 AA632012 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS18 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:              -           -     -                       -                                                                                                   
    SP2:              -           -     -                       -                                                                                                   
    SP3:                          -     -                       -                                                                                                   
    SP4:                                                                                                                                                            
    SP5:                                -                       -                                                                                                   

    ExUns: 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25
    SP1:                          -                             -                           
    SP2:                          -                                                         
    SP3:                          -           -     -     -     -     -                     
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for ADAMTS18

    (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

    ADAMTS18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTATAGAG
    ADAMTS18 Expression
    About this image

    ADAMTS18 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    Definitive endoderm-like cells (Generation and expan...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Cartilage-like cells (Differentiation of s...)Cartilage

    See ADAMTS18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAMTS18

    SOURCE GeneReport for Unigene cluster: Hs.188746

    UniProtKB/Swiss-Prot: ATS18_HUMAN, Q8TE60
    Tissue specificity: Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and
    endothelium

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS18

    (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 ADAMTS18 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ADAMTS181 ADAM metallopeptidase with thrombospondin type 1 motif, more 74.11(n)
    76.77(a)
      100858277  XM_003641937.1  XP_003641985.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133352 Xenopus laevis transcribed sequence with weak similarity more 72.3(n)    BJ038710.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adamts181 ADAM metallopeptidase with thrombospondin type 1 motif, more 65.89(n)
    67.85(a)
      100150128  XM_001919031.1  XP_001919066.1 


    ENSEMBL Gene Tree for ADAMTS18 (if available)
    TreeFam Gene Tree for ADAMTS18 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAMTS18 gene
    ADAMTS72  ADAMTS172  ADAMTS12  ADAMTS192  ADAMTS62  ADAMTS122  ADAMTS142  ADAMTS22  
    ADAMTS202  ADAMTS52  ADAMTS42  ADAMTS152  ADAMTS162  ADAMTS92  ADAMTS82  ADAMTS32  
    ADAMTS102  
    16 SIMAP similar genes for ADAMTS18 using alignment to 5 protein entries:     ATS18_HUMAN (see all proteins):
    ADAMTS16    ADAMTS12    ADAMTS6    ADAMTS1    DKFZp686E01144    ADAMTS10
    ADAMTS20    ADAMTS19    ADAMTS9    ADAMTSL5    C9orf8    DKFZp434K1772
    ADAMTS8    ADAMTS14    ADAMTS2    ADAMTS3

    ADAMTS18 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/4147 NCBI SNPs in ADAMTS18 are shown (see all 4147    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560111641,2
    C--63072797(+) AGCTGT/CCAAAG 1 -- ut312Minor allele frequency- C:0.05WA 120
    rs1154080001,2
    C,F--63072939(+) AGAACA/CCATAA 1 -- ut311Minor allele frequency- C:0.06WA 118
    rs740257651,2
    C--63073098(+) CAAGCG/CAAGCA 1 -- ut311Minor allele frequency- C:0.50WA 2
    rs736304331,2
    C--63073805(+) ATTCCC/TAAAGA 1 -- ut312Minor allele frequency- T:0.03WA 120
    rs30879391,2
    H--63073816(-) CTACAG/ACCCGC 1 -- ut31 ese35Minor allele frequency- A:0.01MN NS EA 604
    rs782035021,2
    C,F--63074476(+) TACTGG/TCAACC 1 -- ut311Minor allele frequency- T:0.06WA 118
    rs1135984471,2
    C--63075011(+) GGCCAG/AGCTGG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs775295581,2
    --63075243(+) GGTAGA/GGGGGT 1 -- int10--------
    rs169454421,2
    C,F,H--63075278(+) CAAGAA/CAAGAC 1 -- int119Minor allele frequency- C:0.03NA NS EA WA 1880
    rs744130231,2
    F--63075362(+) TCCCTA/GTGTAG 1 -- int11Minor allele frequency- G:0.14WA 118

    HapMap Linkage Disequilibrium report for ADAMTS18 (77281710 - 77469011 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ADAMTS18
         1 CNV: 9281
         1 Indel: 25680
    Human Gene Mutation Database (HGMD): ADAMTS18

    1 SABiosciences Cancer Mutation PCR Assay for ADAMTS18:
    Cosmic IdAA Change
    109444p.P452S
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADAMTS18
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS18

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ADAMTS18 for disorders           About GeneDecksing

    OMIM gene information: 607512    OMIM disorders: --

    UniProtKB/Swiss-Prot: ATS18_HUMAN, Q8TE60
  • Defects in ADAMTS18 are the cause of Knobloch syndrome type 2 (KNO2) [MIM:608454]. A developmental disorder
  • primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal
    degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to
    occult cutis aplasia

    18 diseases for ADAMTS18:    About MalaCards
    carotid artery occlusion    vitreoretinal degeneration    encephalocele    encephaloceles
    knobloch syndrome    retinal detachment    myopia    retinitis
    nasopharyngitis    pancreatic cancer    breast cancer    pancreatitis
    cerebritis    esophagitis    cholesterol    melanoma
    prostatitis    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: ADAMTS18 (5 documents)

    Export disorders for ADAMTS18 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 ADAMTS18 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ADAMTS18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. (PubMed id 11867212)1, 2, 3 Cal S....Lopez-Otin C. (2002)
    2. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (PubMed id 21862674)1, 2 Aldahmesh M.A.... Alkuraya F.S. (2011)
    3. Epigenetic identification of ADAMTS18 as a novel 16q23.1 tumor suppressor frequently silenced in esophageal, nasopharyngeal and multiple other carcinomas. (PubMed id 17546048)1, 3 Jin H....Tao Q. (2007)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. (PubMed id 19249006)1, 9 Xiong D.H....Deng H.W. (2009)
    7. A genome-wide search for genetic influences and biolog ical pathways related to the brain's white matter integrity. (PubMed id 22425255)1 Lopez L.M....Deary I.J. (2012)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Mutational and functional analysis reveals ADAMTS18 m etalloproteinase as a novel driver in melanoma. (PubMed id 21047771)1 Wei X....Samuels Y. (2010)
    10. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1 Dastani Z....Genest J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 170692 HGNC: 17110 AceView: ADAMTS18 Ensembl:ENSG00000140873 euGenes: HUgn170692
    ECgene: ADAMTS18 H-InvDB: ADAMTS18

    (According to HUGE)
    About This Section
      --

    (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 ADAMTS18 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 ADAMTS18 gene:
    Search GeneIP for patents involving ADAMTS18

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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