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ADAMTS10 Gene

protein-coding   GIFtS: 61
GCID: GC19M008645

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
  See ADAMTS10-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, 101 2     WMS2
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 101 2
     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 102
ADAM-TS102 3     Zinc Metalloendopeptidase2
ADAMTS-102 3     EC 3.4.24.-3
ADAM-TS 102 3     EC 3.4.24.828
WMS12 5     

External Ids:    HGNC: 132011   Entrez Gene: 817942   Ensembl: ENSG000001423037   OMIM: 6089905   UniProtKB: Q9H3243   

Export aliases for ADAMTS10 gene to outside databases

Previous GC identifers: GC19M008673 GC19M008859 GC19M008540 GC19M008551 GC19M008300


(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 ADAMTS10 Gene:
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs)
family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease
domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at
least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue
organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene
plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal
recessive Weill-Marchesani syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTS10 Gene:
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10) is a protein-coding gene. Diseases associated with ADAMTS10 include weill-marchesani syndrome 1, recessive, and adamts10-related weill-marchesani syndrome. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is ADAMTS17.

UniProtKB/Swiss-Prot: ATS10_HUMAN, Q9H324
Function: Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix
components occurring independently or along with elastin in the formation of elastic tissues

Gene Wiki entry for ADAMTS10 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTS10 gene promoter:
         SREBP-1c   ATF-2   Bach2   Olf-1   SREBP-1b   YY1   CRE-BP1   MEF-2A   SREBP-1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS10 promoter sequence
   Search Chromatin IP Primers for ADAMTS10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTS10


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3

ADAMTS10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS10 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M008645:  view genomic region     (about GC identifiers)

Start:
8,645,126 bp from pter      End:
8,675,620 bp from pter
Size:
30,495 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: ATS10_HUMAN, Q9H324 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 10 precursor  
Size: 1103 amino acids; 120874 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Interacts with FBN1; this interaction promotes microfibrils assembly

Explore the universe of human proteins at neXtProt for ADAMTS10: NX_Q9H324

Explore proteomics data for ADAMTS10 at MOPED

Post-translational modifications: 

  • 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 Asn90, Asn222, Asn323, Asn740, Asn795, Asn892
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ADAMTS10 (Q9H324)
     PWGDCSR  VETLVVAD  CSRTCGGGV 


    See ADAMTS10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269281.1  NP_112219.3  

    ENSEMBL proteins: 
     ENSP00000470501   ENSP00000469901   ENSP00000471851   ENSP00000469559   ENSP00000469516  
     ENSP00000270328  
    Reactome Protein details: Q9H324

    ADAMTS10 Human Recombinant Protein Products:

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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: ADAMTS10
    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 Q9H324

    ProtoNet protein and cluster: Q9H324

    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: ATS10_HUMAN, Q9H324
    Domain: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular
    matrix (By similarity)
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 5 TSP type-1 domains


    Find genes that share domains with ADAMTS10           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS10_HUMAN, Q9H324
    Function: Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix
    components occurring independently or along with elastin in the formation of elastic tissues

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008233peptidase activity ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with ADAMTS10           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTS10:
     Increased viability after born 

         1 MGI phenotypic allele for Adamts10 (no phenotypes)

    Find genes that share phenotypes with ADAMTS10           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTS10
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    hsa-miR-4265 hsa-miR-513a-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-128 hsa-miR-486-3p hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS10 3' UTR sequence
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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
    ATS10_HUMAN, Q9H324: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    cytoskeleton1
    cytosol1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril IDA--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0031012extracellular matrix IDA--

    Find genes that share ontologies with ADAMTS10           About GenesLikeMe


    (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 ADAMTS10 About    
    See pathways by source

    SuperPathContained pathways About
    1Notch Signaling Pathway (sino)
    Notch Signaling Pathway


    Find genes that share SuperPaths with ADAMTS10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Sino Biological Pathway for ADAMTS10
        Notch Signaling Pathway

    1 Reactome Pathway for ADAMTS10
        O-glycosylation of TSR domain-containing proteins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTS10
    Interactions:

        Search GeneGlobe Interaction Network for ADAMTS10

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    Selected Interacting proteins for ADAMTS10 (Q9H3242, 3 ENSP000002703284) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMGCLP359142, 3, ENSP000003636144MINT-8258164 I2D: score=2 STRING: ENSP00000363614
    SMN1Q166372, 3MINT-8270827 I2D: score=2 
    SMN2Q166372, 3MINT-8270827 I2D: score=2 
    ANXA7P200732, 3MINT-8247965 I2D: score=2 
    CDKN1AP389362, 3MINT-8251540 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0008150biological_process ND--

    Find genes that share ontologies with ADAMTS10           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTS10 (ATS10)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADAMTS10 gene (2 alternative transcripts): 
    NM_001282352.1  NM_030957.3  

    Unigene Cluster for ADAMTS10:

    ADAM metallopeptidase with thrombospondin type 1 motif, 10
    Hs.657508  [show with all ESTs]
    Unigene Representative Sequence: NM_030957
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595838 ENST00000593913 ENST00000597188 ENST00000596851 ENST00000596911
    ENST00000593826 ENST00000596236 ENST00000603221 ENST00000601163 ENST00000601872
    ENST00000596709 ENST00000596466 ENST00000593534 ENST00000270328(uc002mki.1 uc002mkj.1 uc002mkk.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADAMTS10 (see all 25):
    hsa-miR-4265 hsa-miR-513a-5p hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-128 hsa-miR-486-3p hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS10 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ADAMTS10
      QuantiFast Probe-based Assays in human, mouse, rat ADAMTS10

    Additional mRNA sequence: 

    AB209515.1 AF163762.1 AK131414.1 BC029308.1 

    10 DOTS entries:

    DT.442314  DT.97791858  DT.121410706  DT.100743381  DT.436881  DT.75155302  DT.100738095  DT.40130375 
    DT.100698017  DT.101973875 

    Selected AceView cDNA sequences (see all 133):

    AI871149 BC029308 AI131032 AW183873 NM_030957 CA396141 CD632954 AI741177 
    BF515795 CD632967 BU727601 BM671015 CD632939 AI673039 BM709180 AI271540 
    CD632961 AI338993 CD632970 CD632968 CB963266 CD632958 AK131414 CD632951 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS10 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a ·
    SP1:                    -                 -                                                                 -           -     -                       -     -   
    SP2:                                      -                                                                 -           -     -                       -     -   
    SP3:                                                                                                                                                  -     -   
    SP4:                                                                                                                                                  -     -   
    SP5:                                                                                                                                                            

    ExUns: 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:  -                                                                                             
    SP4:                                                                                                
    SP5:                                                              -                                 


    ECgene alternative splicing isoforms for ADAMTS10

    (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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    ADAMTS10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTACAGA
    ADAMTS10 Expression
    About this image

    ADAMTS10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657508

    UniProtKB/Swiss-Prot: ATS10_HUMAN, Q9H324
    Tissue specificity: Widely expressed in adult tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS10

    (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 ADAMTS10 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts101 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 87.14(n)1
    94.28(a)1
      17 (17.98 cM)5
    2246971  NM_172619.31  NP_766207.21 
     335242045 
    chicken
    (Gallus gallus)
    Aves ADAMTS101 ADAM metallopeptidase with thrombospondin type 1 motif, more 72.14(n)
    74.23(a)
      769592  XM_001232249.3  XP_001232250.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTS106
    ADAM metallopeptidase with thrombospondin type 1 m...
    71(a)
    1 ↔ 1
    AAWZ02038110(363-12630)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adamts101 ADAM metallopeptidase with thrombospondin type 1 motif, more 66.33(n)
    69.24(a)
      100494667  XM_002938566.2  XP_002938612.2 
    zebrafish
    (Danio rerio)
    Actinopterygii adamts101 ADAM metallopeptidase with thrombospondin type 1 motif, more 67.6(n)
    67.82(a)
      564734  NM_001123274.1  NP_001116746.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG148696
    --
    18(a)
    1 → many
    3R(11267965-11301915)
    worm
    (Caenorhabditis elegans)
    Secernentea C37C3.6a3 protease inhibitor 35(a)
    (best of 2)
      V(7829899-7835944)   --


    ENSEMBL Gene Tree for ADAMTS10 (if available)
    TreeFam Gene Tree for ADAMTS10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTS10 gene
    ADAMTS172  ADAMTS12  ADAMTS182  ADAMTS192  ADAMTS62  ADAMTS142  ADAMTS22  ADAMTS202  
    ADAMTS52  ADAMTS152  ADAMTS42  ADAMTS92  ADAMTS82  ADAMTS162  ADAMTS32  
    10 SIMAP similar genes for ADAMTS10 using alignment to 5 protein entries:     ATS10_HUMAN (see all proteins):
    ADAMTS6    ADAMTS12    ADAMTS7    ADAMTS16    ADAMTS18    ADAMTS4
    ADAMTS1    DKFZp686E01144    PAPLN    ADAMTS20

    Find genes that share paralogs with ADAMTS10           About GenesLikeMe



    (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 ADAMTS10 (see all 871)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0544394
    Weill-Marchesani syndrome 1 (WMS1)4--see VAR_0544392 A T mis40--------
    rs2676066371,2
    Cpathogenic18654186(-) GTGGCA/G/TGTGAC 4 G C mis10--------
    rs1214343581,2
    Cpathogenic18670523(-) CGCACA/GCCTTC 4 T A mis10--------
    rs800466531,2
    C,Funtested18649788(+) AGGGCC/TGTCCC 4 S G mis11Minor allele frequency- T:0.02WA 118
    rs58270071,2
    C--8609003(+) TTCTTCTT/-TCTTC 2 -- int1 cds1 trp31Minor allele frequency- -:0.00NA 2
    rs741781091,2
    C,F--8644849(+) AAAAAT/AAAAAA 2 -- ds50012Minor allele frequency- A:0.50NA 4
    rs741781101,2
    C,F--8644853(+) AAAAAT/AAAATA 2 -- ds50012Minor allele frequency- A:0.50NA 4
    rs42674571,2
    A--8644857(+) AAAAAA/TAAAAA 1 -- ds50010--------
    rs3705908211,2
    C--8644857(+) AAAAA-/TAAAAA 2 -- ds50010--------
    rs711798561,2
    C--8644858(-) ATTTA-/TTTTTT 1 -- ds50011Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for ADAMTS10 (8645126 - 8675620 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ADAMTS10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667281CNV Deletion23128226
    esv2677021CNV Deletion23128226
    nsv911018CNV Loss21882294

    Human Gene Mutation Database (HGMD): ADAMTS10
    2 Site Specific Mutation Identification with PCR Assays for ADAMTS10:
    Cosmic IdAA Change
    109510p.E646K
    142229p.P931S
    SeqTarget long-range PCR primers for resequencing ADAMTS10
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS10

    (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: 608990   
    OMIM disorders: 277600  
    UniProtKB/Swiss-Prot: ATS10_HUMAN, Q9H324
  • Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]: A rare connective tissue disorder characterized by short
    stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis,
    severe myopia and glaucoma. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for ADAMTS10:    
    About MalaCards
    weill-marchesani syndrome 1, recessive    adamts10-related weill-marchesani syndrome    weill-marchesani syndrome

    1 disease from the University of Copenhagen DISEASES database for ADAMTS10:
    Weill-Marchesani syndrome

    Find genes that share disorders with ADAMTS10           About GenesLikeMe

    GeneTests: ADAMTS10
    GeneReviews: ADAMTS10
    Genetic Association Database (GAD): ADAMTS10

    Export disorders for ADAMTS10 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 ADAMTS10 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ADAMTS10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. (PubMed id 15355968)1, 2, 9 Somerville R.P.T.... Apte S.S. (J. Biol. Chem. 2004)
    2. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. (PubMed id 15368195)1, 2, 9 Dagoneau N....Cormier-Daire V. (Am. J. Hum. Genet. 2004)
    3. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. (PubMed id 21402694)1, 2 Kutz W.E.... Apte S.S. (J. Biol. Chem. 2011)
    4. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    5. Functional analysis of an ADAMTS10 signal peptide mutation in Weill- Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. (PubMed id 18567016)1, 2 Kutz W.E.... Apte S.S. (Hum. Mutat. 2008)
    6. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. (PubMed id 19836009)1, 9 Morales J....Al Tassan N. (Am. J. Hum. Genet. 2009)
    7. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. (PubMed id 19696795)1, 9 Ben Yahia S....Khairallah M. (J. Hum. Genet. 2009)
    8. Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles. (PubMed id 23422823)1 Kuchtey J....Kuchtey R.W. (amp 2013)
    9. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. (PubMed id 22197932)4 Paternoster L....Weidinger S. (Nat. Genet. 2012)
    10. SuperTAG methylation-specific digital karyotyping reveals uremia-induced epigenetic dysregulation of atherosclerosis-related genes. (PubMed id 23074332)1 Zawada A.M....Heine G.H. (Circ Cardiovasc Genet 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 81794 HGNC: 13201 AceView: ADAMTS10 Ensembl:ENSG00000142303 euGenes: HUgn81794
    ECgene: ADAMTS10 H-InvDB: ADAMTS10

    (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 ADAMTS10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ADAMTS10[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTS10 gene:
    Search GeneIP for patents involving ADAMTS10

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



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