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ADAMTS9 Gene

protein-coding   GIFtS: 58
GCID: GC03M064501

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
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(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, 91 2     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 92
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 91 2
     EC 3.4.24.-3
ADAM-TS92 3     KIAA13123
ADAMTS-92 3     EC 3.4.24.148
ADAM-TS 92 3     EC 3.4.24.828

External Ids:    HGNC: 132021   Entrez Gene: 569992   Ensembl: ENSG000001636387   OMIM: 6054215   UniProtKB: Q9P2N43   

Export aliases for ADAMTS9 gene to outside databases

Previous GC identifers: GC03M063400 GC03M063939 GC03M064356 GC03M064458 GC03M064476


(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 ADAMTS9 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. Members of
the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during
development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known
to be lost in hereditary renal tumors. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAMTS9 Gene:
ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif, 9) is a protein-coding gene. Diseases associated with ADAMTS9 include chondrosarcoma, and age related macular degeneration. GO annotations related to this gene include metallopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS17.

UniProtKB/Swiss-Prot: ATS9_HUMAN, Q9P2N4
Function: Cleaves the large aggregating proteoglycans, aggrecan and versican. Has a protease-independent function
in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos

Gene Wiki entry for ADAMTS9 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:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTS9 gene promoter:
         c-Fos   AP-1   p53   NRSF form 1   STAT5A   NRSF form 2   AREB6   PPAR-gamma1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS9 promoter sequence
   Search Chromatin IP Primers for ADAMTS9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTS9


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

Entrez Gene cytogenetic band: 3p14.1   Ensembl cytogenetic band:  3p14.1   HGNC cytogenetic band: 3p14.1

ADAMTS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS9 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M064501:  view genomic region     (about GC identifiers)

Start:
64,501,330 bp from pter      End:
64,673,676 bp from pter
Size:
172,347 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATS9_HUMAN, Q9P2N4 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 9 precursor  
Size: 1935 amino acids; 216491 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Secondary accessions: A1L4L0 B7ZVX9 B9ZVN0 Q9NR29
Alternative splicing: 4 isoforms:  Q9P2N4-3   Q9P2N4-1   Q9P2N4-2   Q9P2N4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAMTS9: NX_Q9P2N4

Explore proteomics data for ADAMTS9 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 Asn112, Asn135, Asn271, Asn749, Asn840, Asn1213, Asn1267
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ADAMTS9 (Q9P2N4)
     VCGGDNS  DKCGVCGG  AHELGHVF 


    See ADAMTS9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_891550.1  
    ENSEMBL proteins: 
     ENSP00000295903   ENSP00000418735   ENSP00000417521   ENSP00000419217  
    Reactome Protein details: Q9P2N4

    ADAMTS9 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: ADAMTS9
    ADAMTS family

    Selected InterPro protein domains (see all 7):
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR012314 Pept_M12B_GON-ADAMTSs
     IPR010294 ADAM_spacer1

    Graphical View of Domain Structure for InterPro Entry Q9P2N4

    ProtoNet protein and cluster: Q9P2N4

    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: ATS9_HUMAN, Q9P2N4
    Domain: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular
    matrix (By similarity)
    Domain: The ancillary domains, including the TSRs domain, are required for specific extracellular localization and
    for its versicanase and aggrecanase activities
    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
    Domain: The GON domain mediates protease-independent function in ER to Golgi transport
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 GON domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 15 TSP type-1 domains


    ADAMTS9 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS9_HUMAN, Q9P2N4
    Function: Cleaves the large aggregating proteoglycans, aggrecan and versican. Has a protease-independent function
    in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos
    Catalytic activity: Cleaves aggrecan at the 1838-Glu- -Ala-1839 site and versican at the 1428-Glu- -Ala-1429 site

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.142 EC 3.4.24.822

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008237metallopeptidase activity IDA12514189
    GO:0008270zinc ion binding IEA--
         
    ADAMTS9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTS9:
     Decreased cilium length after  

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Adamts9):
     embryogenesis  integument  limbs/digits/tail  mortality/aging  nervous system 
     pigmentation 

    ADAMTS9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTS9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADAMTS9
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    miRNA
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    miRTarBase miRNAs that target ADAMTS9:
    hsa-mir-29a-3p (MIRT005668)

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    Selected qRT-PCR Assays for microRNAs that regulate ADAMTS9 (see all 53):
    hsa-miR-548j hsa-miR-4254 hsa-miR-607 hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-877* hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ADAMTS9

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS9


    (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
    ATS9_HUMAN, Q9P2N4: Secreted, extracellular space, extracellular matrix (By similarity). Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    cytosol1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005578proteinaceous extracellular matrix IDA12514189
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0031012colocalizes with extracellular matrix ISS--

    ADAMTS9 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 ADAMTS9 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 ADAMTS9
        O-glycosylation of TSR domain-containing proteins
    Degradation of the extracellular matrix



    ADAMTS9 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAMTS9
    Interactions:

        GeneGlobe Interaction Network for ADAMTS9

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA12514189
    GO:0006516glycoprotein catabolic process TAS10936055
    GO:0007275multicellular organismal development TAS10936055
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--

    ADAMTS9 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTS9 (ATS9)



    (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,
    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 ADAMTS9 gene: 
    NM_182920.1  

    Unigene Cluster for ADAMTS9:

    ADAM metallopeptidase with thrombospondin type 1 motif, 9
    Hs.656071  [show with all ESTs]
    Unigene Representative Sequence: NM_182920
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477180 ENST00000295903 ENST00000498707(uc003dmg.3 uc011bfo.2)
    ENST00000467257 ENST00000481060(uc011bfp.1) ENST00000482490(uc003dmh.1)
    ENST00000475557(uc003dmk.1) ENST00000459780 ENST00000467119 ENST00000494004


    miRNA
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    Block miRNA regulation of human, mouse, rat ADAMTS9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADAMTS9 (see all 53):
    hsa-miR-548j hsa-miR-4254 hsa-miR-607 hsa-miR-29a hsa-miR-25 hsa-miR-30d hsa-miR-877* hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidADAMTS9 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ADAMTS9
      QuantiFast Probe-based Assays in human, mouse, rat ADAMTS9

    Additional mRNA sequence: 

    AB037733.1 AF488803.1 AK124945.1 AK300357.1 AK303343.1 AK310571.1 BC026271.2 BC036770.1 
    BC130578.1 BC171764.1 

    6 DOTS entries:

    DT.100814942  DT.91904315  DT.100684795  DT.40207529  DT.95261455  DT.75158360 

    Selected AceView cDNA sequences (see all 117):

    BM993252 CR619556 AW020835 AI499485 BF476788 BC036770 BM729081 AW170735 
    CD514469 CA419190 AW338283 CD686374 AI632702 BF724218 NM_020249 AI334218 
    AB037733 AA705567 AI280794 AI333066 AI890599 CB215591 NM_182920 AI479925 

    GeneLoc Exon Structure


    (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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    ADAMTS9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGACACTT
    ADAMTS9 Expression
    About this image


    ADAMTS9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Floor Plate
             Floor plate-like cells
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 2 entries
             Paraxial Mesoderm Cells Head Mesenchyme
             Head Mesenchyme
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     NULL (Uncategorized)
             DKK1-induced cells
    ADAMTS9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656071

    UniProtKB/Swiss-Prot: ATS9_HUMAN, Q9P2N4
    Tissue specificity: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest
    expression in heart, placenta and skeletal muscle

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS9

    (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 ADAMTS9 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts91 , 5 a disintegrin-like and metallopeptidase (reprolysin more1, 5 86.41(n)1
    89.99(a)1
      6 (41.41 cM)5
    1014011  NM_175314.31  NP_780523.21 
     927726995 
    chicken
    (Gallus gallus)
    Aves ADAMTS91 ADAM metallopeptidase with thrombospondin type 1 motif, more 73.7(n)
    76.87(a)
      416080  XM_004944664.1  XP_004944721.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADAMTS96
    ADAM metallopeptidase with thrombospondin type 1 m...
    74(a)
    1 ↔ 1
    GL343210.1(1188949-1299105)
    zebrafish
    (Danio rerio)
    Actinopterygii adamts91 ADAM metallopeptidase with thrombospondin type 1 motif, more 66.1(n)
    68.45(a)
      100333407  NM_001257196.1  NP_001244125.1 
    worm
    (Caenorhabditis elegans)
    Secernentea gon-11 gon-1 49.88(n)
    41.21(a)
      177850  NM_001268519.1  NP_001255448.1 


    ENSEMBL Gene Tree for ADAMTS9 (if available)
    TreeFam Gene Tree for ADAMTS9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTS9 gene
    ADAMTS172  ADAMTS12  ADAMTS182  ADAMTS192  ADAMTS62  ADAMTS142  ADAMTS22  ADAMTS202  
    ADAMTS52  ADAMTS152  ADAMTS42  ADAMTS82  ADAMTS162  ADAMTS32  ADAMTS102  
    12 SIMAP similar genes for ADAMTS9 using alignment to 3 protein entries:     ATS9_HUMAN (see all proteins):
    ADAMTS1    ADAMTS4    ADAMTS20    DKFZp686E01144    ADAMTS8    ADAMTS15
    ADAMTS16    ADAMTS6    ADAMTS13    ADAMTS18    C9orf8    DKFZp434K1772

    ADAMTS9 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 ADAMTS9 (see all 4189)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168316741,2
    F--64501119(+) GAGGGG/TTAAGT 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs786068551,2
    C,F--64501131(+) CCCAGT/CTTCCA 1 -- ds50011Minor allele frequency- C:0.03EA 120
    rs599792301,2
    F--64501146(+) AACCAC/TTTTAA 1 -- ds50010--------
    rs738344801,2
    C,F--64501175(+) AGACAG/CATCTT 1 -- ds50012Minor allele frequency- C:0.10WA 120
    rs1853695481,2
    --64501191(+) CAAGCC/GCCATC 1 -- ds50010--------
    rs746237311,2
    C,F--64501211(+) CTCTAG/CAATGG 1 -- ds50012Minor allele frequency- C:0.04CSA WA 119
    rs1386885881,2
    --64501334(+) GTTTGA/GGTGTG 1 -- ut310--------
    rs802915671,2
    C--64501410(+) TACTGA/CATATA 1 -- ut312Minor allele frequency- C:0.04CSA WA 119
    rs1169586221,2
    C,F--64501580(+) AGACCA/GTGGCT 1 -- ut311Minor allele frequency- G:0.01EA 120
    rs1145421341,2
    C,F--64501618(+) ACAAAA/GAAGTG 1 -- ut311Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for ADAMTS9 (64501330 - 64673676 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ADAMTS9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272472CNV Insertion20981092
    nsv834718CNV Gain17160897
    dgv809n67CNV Gain20364138
    dgv289n21CNV Gain19592680
    esv28694CNV Gain19812545
    esv259423OTHER Complex20981092
    esv259785OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTS9
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS9

    (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.)
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    OMIM gene information: 605421    OMIM disorders: --

    17 diseases for ADAMTS9:    
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    chondrosarcoma    age related macular degeneration    nasopharyngitis    esophageal squamous cell carcinoma
    insulin resistance    bipolar disorder    diabetes mellitus    obesity
    esophagitis    squamous cell carcinoma    pancreatic cancer    retinitis
    pancreatitis    alzheimer's disease    prostate cancer    prostatitis
    endotheliitis


    ADAMTS9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    1 Novoseek inferred disease relationship for ADAMTS9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 9.06 2 15880812 (2)

    Genetic Association Database (GAD): ADAMTS9
    Human Genome Epidemiology (HuGE) Navigator: ADAMTS9 (38 documents)

    Export disorders for ADAMTS9 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 ADAMTS9 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with ADAMTS9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ADAMTS 9, a novel member of the ADAM-TS/Metallospondin gene family. (PubMed id 10936055)1, 2, 3 Clark M.E....Maki R.A. (Genomics 2000)
    2. Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. (PubMed id 12514189)1, 2, 9 Somerville R.P.... Apte S.S. (J. Biol. Chem. 2003)
    3. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PubMed id 22005931)1, 4 Kamboh M.I....Lopez O.L. (Mol. Psychiatry 2012)
    4. Identification of a novel ADAMTS9/GON-1 function for protein transport from the ER to the Golgi. (PubMed id 22419820)1, 2 Yoshina S....Mitani S. (Mol. Biol. Cell 2012)
    5. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. (PubMed id 19833888)1, 4 Simonis-Bik A.M....'t Hart L.M. (Diabetes 2010)
    6. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PubMed id 20490451)1, 4 Andersson E.A....Pedersen O. (Diabetologia 2010)
    7. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. (PubMed id 20161779)1, 4 Wen J....Hu R. (PLoS ONE 2010)
    8. Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (Hum. Hered. 2010)
    9. Obesity and diabetes genetic variants associated with gestational weight gain. (PubMed id 20816152)1, 4 Stuebe A.M....Siega-Riz A.M. (Am. J. Obstet. Gynecol. 2010)
    10. Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits. (PubMed id 19670153)1, 4 Schleinitz D....Stumvoll M. (Horm. Metab. Res. 2010)

    (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: 56999 HGNC: 13202 AceView: ADAMTS9 Ensembl:ENSG00000163638 euGenes: HUgn56999
    ECgene: ADAMTS9 H-InvDB: ADAMTS9

    (According to HUGE)
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    HUGE: KIAA1312

    (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 ADAMTS9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ADAMTS9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTS9 gene:
    Search GeneIP for patents involving ADAMTS9

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



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