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ADAMTS18 Gene

protein-coding   GIFtS: 58
GCID: GC16M077316

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
(Previous symbol: ADAMTS21)
  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)
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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
MMCAT2 5     EC 3.4.24.-3
KNO22     ADAM-TS 183
A Disintegrin And Metalloproteinase With Thrombospondin Motifs 182     EC 3.4.24.828
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 212
     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADAMTS18 Gene:
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)

GeneCards Summary for ADAMTS18 Gene:
ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif, 18) is a protein-coding gene. Diseases associated with ADAMTS18 include microcornea, myopic chorioretinal atrophy, and telecanthus, and knobloch syndrome. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is ADAMTS17.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for ADAMTS18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Caution: Variant Leu-179 has been originally reported as disease-causing mutation in a patient with Knobloch
syndrome (PubMed:21862674). It has been subsequently shown that Knobloch syndrome in the patient was due to an
intronic mutation in COL18A1. Variant Leu-179 is, therefore, not responsible for the disease phenotype
(PubMed:23667181)
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

Explore proteomics data for ADAMTS18 at MOPED

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
  • Glycosylation2 at Asn151, Asn190, Asn313, Asn745, Asn838, Asn909
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ADAMTS18 (Q8TE60)
     VETLVVAD  CSRTCGGGV 


    See ADAMTS18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_955387.1  
    ENSEMBL proteins: 
     ENSP00000454368   ENSP00000282849   ENSP00000392540   ENSP00000457395  
    Reactome Protein details: Q8TE60

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS18
    ADAMTS family

    Selected InterPro protein domains (see all 7):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR010909 PLAC
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry Q8TE60

    ProtoNet protein and cluster: Q8TE60

    5 Blocks protein domains:
    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


    ADAMTS18 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.822

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008233peptidase activity ----
    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:
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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
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATS18_HUMAN, Q8TE60: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    ADAMTS18 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ADAMTS18 About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for ADAMTS18
        O-glycosylation of TSR domain-containing proteins
    Degradation of the extracellular matrix



    ADAMTS18 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTS18
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTS18

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ADAMTS18 (ENSP000002828494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VEGFAENSP000003611254STRING: ENSP00000361125
    PDIA4ENSP000002860914STRING: ENSP00000286091
    --ENSP000002787524STRING: ENSP00000278752
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IMP--
    GO:0006508proteolysis ----
    GO:0007229integrin-mediated signaling pathway ----

    ADAMTS18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ADAMTS18 (ATS18)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADAMTS18 (see all 61):
    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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      QuantiTect SYBR Green Assays in human, mouse, rat ADAMTS18
      QuantiFast Probe-based Assays in human, mouse, rat ADAMTS18

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 52):

    BM684970 NM_139054 AA902183 BE551244 Z45412 BC063283 BE467894 NM_199355 
    BM931923 AF086229 AA369130 BE219281 BE467873 Z41124 AJ311903 CD636671 
    CD636669 AI634529 AW444896 BX115636 W56640 CB990094 BX458327 AI733120 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADAMTS18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTATAGAG
    ADAMTS18 Expression
    About this image


    ADAMTS18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Definitive endoderm-like cells
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Brain (Nervous System)
             Cerebral Cortex
    ADAMTS18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS18 Protein Expression

    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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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ADAMTS18 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts181 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 85.75(n)1
    88.98(a)1
      8 (59.65 cM)5
    2089361  NM_172466.21  NP_766054.21 
     1136981375 
    chicken
    (Gallus gallus)
    Aves ADAMTS181 ADAM metallopeptidase with thrombospondin type 1 motif, more 74.08(n)
    76.77(a)
      100858277  XM_004944253.1  XP_004944310.1 
    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 64.95(n)
    66.2(a)
      100150128  XM_001919031.2  XP_001919066.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40963 metalloendopeptidase 31(a)
    (best of 2)
      5B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea C37C3.6a3 protease inhibitor 34(a)
    (best of 3)
      V(7829899-7835944)   --


    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)
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    Paralogs for ADAMTS18 gene
    ADAMTS172  ADAMTS12  ADAMTS192  ADAMTS62  ADAMTS142  ADAMTS22  ADAMTS202  ADAMTS52  
    ADAMTS152  ADAMTS42  ADAMTS92  ADAMTS82  ADAMTS162  ADAMTS32  ADAMTS102  
    11 SIMAP similar genes for ADAMTS18 using alignment to 5 protein entries:     ATS18_HUMAN (see all proteins):
    ADAMTS16    ADAMTS12    ADAMTS6    ADAMTS1    DKFZp686E01144    ADAMTS10
    ADAMTS20    ADAMTS9    ADAMTS19    C9orf8    DKFZp434K1772

    ADAMTS18 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADAMTS18 (see all 4879)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0708504
    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)4--see VAR_0708502 C W mis40--------
    VAR_0708494
    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)4--see VAR_0708492 L P mis40--------
    VAR_0361524
    A colorectal cancer sample4--see VAR_0361522 R K mis40--------
    VAR_0361534
    A colorectal cancer sample4--see VAR_0361532 K T mis40--------
    rs1388948721,2
    C--63079073(+) AGCTA-/T/TT  
            
    TTTTT
    1 -- int10--------
    rs1853231651,2
    --63079077(+) TATTTG/TTTTTT 1 -- int10--------
    rs724434611,2
    C--63079084(+) TTTTT-/T/TT  
            
    GGTCT
    1 -- int10--------
    rs719560721,2
    C--63086100(+) CATGC-/CACTTT
    AAAATCTG
    CACAA
    1 -- int11Minor allele frequency- CACTTTAAAATCTG:0.00CSA 2
    rs613431091,2
    C--63086103(+) GCCAC-/TTTAAA
    ATCTGCAC
    AATTC
    1 -- int10--------
    rs361145791,2
    C--63094355(+) ACAAT-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for ADAMTS18 (77281710 - 77469011 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ADAMTS18:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669432CNV Deletion23128226
    esv1576922CNV Deletion17803354
    esv999396CNV Deletion20482838
    nsv457541CNV Loss19166990
    esv2751613CNV Loss17911159
    nsv906957CNV Gain21882294

    Human Gene Mutation Database (HGMD): ADAMTS18
    1 Site Specific Mutation Identification with PCR Assay for ADAMTS18:
    Cosmic IdAA Change
    109444p.P452S
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 607512   
    OMIM disorders: 615458  
    Selected diseases for ADAMTS18 (see all 22):    
    About MalaCards
    microcornea, myopic chorioretinal atrophy, and telecanthus    knobloch syndrome    carotid artery occlusion    vitreoretinal degeneration
    encephalocele    encephaloceles    retinal detachment    myopia
    cataract    nasopharyngitis    retinitis    breast and colorectal cancer
    cerebritis    pancreatic cancer    esophagitis    pancreatitis
    melanoma    colorectal cancer    multiple myeloma    myeloma


    ADAMTS18 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ADAMTS18
    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)
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    PubMed articles for ADAMTS18 gene, integrated from 10 sources (see all 26):
    (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. (Gene 2002)
    2. 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, 4, 9 Xiong D.H....Deng H.W. (Am. J. Hum. Genet. 2009)
    3. A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. (PubMed id 22425255)1, 4 Lopez L.M....Deary I.J. (Neurobiol. Aging 2012)
    4. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (PubMed id 21862674)1, 2 Aldahmesh M.A.... Alkuraya F.S. (J. Med. Genet. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    7. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. (PubMed id 18398821)1, 4 Nordgard S.H....Kristensen V.N. (amp 2008)
    8. 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. (Oncogene 2007)
    9. 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. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 170692 HGNC: 17110 AceView: ADAMTS18 Ensembl:ENSG00000140873 euGenes: HUgn170692
    ECgene: ADAMTS18 H-InvDB: ADAMTS18

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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