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THBS3 Gene

protein-coding   GIFtS: 61
GCID: GC01M155165

Thrombospondin 3

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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
Thrombospondin 31 2
TSP32 3 5
thrombospondin-32

External Ids:    HGNC: 117871   Entrez Gene: 70592   Ensembl: ENSG000001692317   OMIM: 1880625   UniProtKB: P497463   

Export aliases for THBS3 gene to outside databases

Previous GC identifers: GC01M153043 GC01M150906 GC01M151943 GC01M152382 GC01M151979 GC01M153432 GC01M126528


(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 THBS3 Gene:
The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive
glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule
linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results
in coding and non-coding transcript variants. (provided by RefSeq, Nov 2011)

GeneCards Summary for THBS3 Gene:
THBS3 (thrombospondin 3) is a protein-coding gene. GO annotations related to this gene include heparin binding and calcium ion binding. An important paralog of this gene is THBS1.

UniProtKB/Swiss-Prot: TSP3_HUMAN, P49746
Function: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to
fibrinogen, fibronectin, laminin and type V collagen

Gene Wiki entry for THBS3 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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the THBS3 gene promoter:
         ATF-2   c-Jun   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHBS3 promoter sequence
   Search Chromatin IP Primers for THBS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THBS3


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21

THBS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THBS3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155165:  view genomic region     (about GC identifiers)

Start:
155,165,379 bp from pter      End:
155,178,842 bp from pter
Size:
13,464 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: TSP3_HUMAN, P49746 (See protein sequence)
Recommended Name: Thrombospondin-3 precursor  
Size: 956 amino acids; 104201 Da
Subunit: Oligomer; disulfide-linked
Secondary accessions: B1AVR8 B4DQ20 Q8WV34
Alternative splicing: 2 isoforms:  P49746-1   P49746-2   

Explore the universe of human proteins at neXtProt for THBS3: NX_P49746

Explore proteomics data for THBS3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn310, Asn407, Asn644, Asn937
  • Modification sites at PhosphoSitePlus

  • See THBS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001239536.1  NP_001239537.1  NP_009043.1  

    ENSEMBL proteins: 
     ENSP00000357362   ENSP00000392207   ENSP00000404040   ENSP00000437353   ENSP00000444792  
    Reactome Protein details: P49746

    THBS3 Human Recombinant Protein Products:

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    Novus Biologicals THBS3 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for THBS3

     
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    LSBio Antibodies in human, mouse, rat for THBS3

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for THBS3
    Cloud-Clone Corp. CLIAs for THBS3
    Search eBioscience for ELISAs for THBS3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry P49746

    ProtoNet protein and cluster: P49746

    3 Blocks protein domains:
    IPB001881 EGF-like calcium-binding
    IPB003129 Thrombospondin
    IPB008859 Thrombospondin


    UniProtKB/Swiss-Prot: TSP3_HUMAN, P49746
    Similarity: Belongs to the thrombospondin family
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 1 TSP C-terminal (TSPC) domain
    Similarity: Contains 8 TSP type-3 repeats


    Find genes that share domains with THBS3           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: TSP3_HUMAN, P49746
    Function: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to
    fibrinogen, fibronectin, laminin and type V collagen

         Genatlas biochemistry entry for THBS3:
    thrombospondin III,glycoprotein expressed in lung,cell adhesion molecule

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding NAS7558000
    GO:0005515protein binding ----
    GO:0008201heparin binding IDA8288588
         
    Find genes that share ontologies with THBS3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for THBS3:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Thbs3):
     growth/size/body  limbs/digits/tail  skeleton 

    Find genes that share phenotypes with THBS3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Thbs3tm1Bst for THBS3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for THBS3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for THBS3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for THBS3

    miRNA
    Products:
        
    miRTarBase miRNAs that target THBS3:
    hsa-mir-335-5p (MIRT017421)

    Block miRNA regulation of human, mouse, rat THBS3 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate THBS3:
    hsa-miR-3184 hsa-miR-185* hsa-miR-519e hsa-miR-1182 hsa-miR-515-3p hsa-miR-570 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidTHBS3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for THBS3
    Predesigned siRNA for gene silencing in human, mouse, rat THBS3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for THBS3

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    GenScript: all cDNA clones in your preferred vector: THBS3 (NM_007112)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for THBS3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THBS3
    Addgene plasmids for THBS3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THBS3


    (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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol1
    lysosome1
    nucleus1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0048471perinuclear region of cytoplasm IDA11943589

    Find genes that share ontologies with THBS3           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 THBS3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Signaling by FGFR
    Signaling by PDGF0.87
    3Signaling by GPCR
    Signal Transduction0.58
    4PI3K-Akt signaling pathway
    PI3K-Akt signaling pathway
    5Phagosome
    Phagosome


    Find genes that share SuperPaths with THBS3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for THBS3
        Focal Adhesion
    Inflammatory Response Pathway

    1 Reactome Pathway for THBS3
        Signaling by PDGF


    5 Kegg Pathways  (Kegg details for THBS3):
        Phagosome
    PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Malaria

        Pathway & Disease-focused RT2 Profiler PCR Array including THBS3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for THBS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for THBS3 (P497463 ENSP000003573624) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    THBS2P354423, ENSP000003557514I2D: score=2 STRING: ENSP00000355751
    THBS1ENSP000002603564STRING: ENSP00000260356
    THBS4ENSP000003397304STRING: ENSP00000339730
    FURINENSP000002681714STRING: ENSP00000268171
    PDGFBENSP000003303824STRING: ENSP00000330382
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003417growth plate cartilage development IEA--
    GO:0007155cell adhesion ----
    GO:0007160cell-matrix adhesion NAS7558000
    GO:0043931ossification involved in bone maturation IEA--
    GO:0060346bone trabecula formation IEA--

    Find genes that share ontologies with THBS3           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 THBS3 (TSP3)

    1 Novoseek inferred chemical compound relationship for THBS3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 2 10753957 (2)



    Find genes that share compounds with THBS3           About GenesLikeMe



    (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 THBS3 gene (3 alternative transcripts): 
    NM_001252607.1  NM_001252608.1  NM_007112.4  

    Unigene Cluster for THBS3:

    Thrombospondin 3
    Hs.169875  [show with all ESTs]
    Unigene Representative Sequence: NM_007112
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498500 ENST00000368378(uc021pat.1 uc001fix.3 uc009wqi.3 uc001fiy.3 uc010pfu.2)
    ENST00000457183 ENST00000469769 ENST00000428962(uc010pfv.2) ENST00000465596
    ENST00000486260(uc001fja.2 uc009wqj.1) ENST00000496332 ENST00000460050
    ENST00000541990 ENST00000541576
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate THBS3:
    hsa-miR-3184 hsa-miR-185* hsa-miR-519e hsa-miR-1182 hsa-miR-515-3p hsa-miR-570 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidTHBS3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for THBS3
    Predesigned siRNA for gene silencing in human, mouse, rat THBS3
    Clone
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    OriGene clones in human, mouse for THBS3 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: THBS3 (NM_007112)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for THBS3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THBS3
    Addgene plasmids for THBS3 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for THBS3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat THBS3
      QuantiTect SYBR Green Assays in human, mouse, rat THBS3
      QuantiFast Probe-based Assays in human, mouse, rat THBS3

    Additional mRNA sequence: 

    AK074796.1 AK223278.1 AK298592.1 AK298914.1 AK314337.1 BC018786.1 BC113846.1 BC113847.1 
    L38969.1 NR_045553.1 

    22 DOTS entries:

    DT.216188  DT.91922420  DT.100041902  DT.100724418  DT.40132697  DT.91649978  DT.92033193  DT.95080465 
    DT.95080493  DT.100785595  DT.447970  DT.91982569  DT.100675232  DT.121449578  DT.40117162  DT.91866301 
    DT.95145298  DT.100879437  DT.121449584  DT.121449681  DT.216190  DT.99974671 

    Selected AceView cDNA sequences (see all 162):

    BM753035 BM772093 CB162257 BM784313 BC036919 BM909409 AK074796 BM743042 
    BM742691 BQ772917 BC018786 BM090572 BU733588 BQ876660 AA774044 BM782375 
    BM021459 BX389391 BP369408 BQ005702 AL701948 BU633241 BM709575 AA576652 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for THBS3 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^
    SP1:                                      -     -                             -                                               -                                 
    SP2:                                      -     -                             -     -     -     -     -     -     -           -                                 
    SP3:                                      -     -                             -     -     -     -     -     -     -           -     -           -               
    SP4:                                      -     -           -     -           -                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ·
    SP1:        -                                   -           -     -     -           -                                                                 -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                -                                                                           

    ExUns: 24c ^ 25a · 25b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for THBS3

    (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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    THBS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGGGGGGC
    THBS3 Expression
    About this image


    THBS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             Septum   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Spinal Cord (Nervous System)
    THBS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THBS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169875
        Pathway & Disease-focused RT2 Profiler PCR Array including THBS3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat THBS3
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    QuantiFast Probe-based Assays in human, mouse, rat THBS3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THBS3

    (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 THBS3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thbs31 , 5 thrombospondin 31, 5 90.1(n)1
    97.18(a)1
      3 (39.01 cM)5
    218271  NM_013691.21  NP_038719.21 
     892151805 
    lizard
    (Anolis carolinensis)
    Reptilia THBS36
    thrombospondin 3
    73(a)
    1 ↔ 1
    GL344370.1(23359-42934)
    African clawed frog
    (Xenopus laevis)
    Amphibia thbs3-prov2 thrombospondin 3 76.98(n)    BC048222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii thbs32 thrombospondin 3 76.43(n)   252849  AF462310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsp3 cell adhesion molecule 53(a)     --


    ENSEMBL Gene Tree for THBS3 (if available)
    TreeFam Gene Tree for THBS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for THBS3 gene
    THBS12  THBS42  COMP2  THBS22  
    5 SIMAP similar genes for THBS3 using alignment to 6 protein entries:     TSP3_HUMAN (see all proteins):
    THBS4    COMP    DKFZp686G02190    THBS1    THBS2

    Find genes that share paralogs with THBS3           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 THBS3 (see all 304)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358084
    A breast cancer sample4--see VAR_0358082 R G mis40--------
    rs1890783351,2
    C--155165672(+) GCTCAA/GAGTCC 7 S F mis10--------
    rs1404690441,2
    C,F--155165843(+) CAAGAC/TGCCCC 7 H R mis12Minor allele frequency- T:0.00NA EU 5855
    rs1465914431,2
    C--155165884(+) GAATCC/TGCCAC 7 A syn11Minor allele frequency- T:0.00NA 4552
    rs1502548991,2
    C,F--155165892(+) CACAAG/CCTGGG 7 /L /V mis11Minor allele frequency- C:0.00NA 4552
    rs727041141,2
    C,F--155165941(+) TAGGAG/ATATCC 4 -- int11Minor allele frequency- A:0.01EU 1323
    rs1444987281,2
    C--155166157(+) TCCAAA/GCGAGG 4 -- int10--------
    rs748908611,2
    C,F--155166193(+) AATGGG/ACTGGG 4 -- int12Minor allele frequency- A:0.06NA 122
    rs1484449451,2
    --155166349(+) AGACCC/TATTTC 4 -- int10--------
    rs1918263381,2
    --155166452(+) TCAGGA/GCCTTG 4 -- int10--------

    HapMap Linkage Disequilibrium report for THBS3 (155165379 - 155178842 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for THBS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2988CNV Insertion18451855
    dgv391n71CNV Loss21882294
    dgv3n68CNV Loss17160897
    nsv872458CNV Loss21882294
    nsv464084CNV Loss19166990
    nsv470741CNV Loss18288195
    nsv872457CNV Loss21882294
    dgv390n71CNV Loss21882294
    nsv527682CNV Gain19592680
    dgv132e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THBS3
    DNA2.0 Custom Variant and Variant Library Synthesis for THBS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 188062    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for THBS3:
    Pseudoachondroplasia

    Find genes that share disorders with THBS3           About GenesLikeMe

    1 Novoseek inferred disease relationship for THBS3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaucher disease 55 1 7558000 (1)


    Export disorders for THBS3 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 THBS3 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with THBS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and organization of the human thrombospondin 3 gene (THBS3). (PubMed id 7558000)1, 2, 9 Adolph K.W.... Bornstein P. (Genomics 1995)
    2. 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)
    3. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2 Winfield S.L.... Sidransky E. (Genome Res. 1997)
    4. Thrombospondin 3 (Thbs3), a new member of the thrombospondin gene family. (PubMed id 1601886)1, 3 Vos H.L....Bornstein P. (J. Biol. Chem. 1992)
    5. The human thrombospondin 3 gene: analysis of transcription initiation and an alternatively spliced transcript. (PubMed id 10527891)1, 9 Adolph K.W. and Bornstein P. (Mol. Cell Biol. Res. Commun. 1999)
    6. Corneal stromal cells (keratocytes) express thrombospondins 2 and 3 in wound repair phenotype. (PubMed id 11943589)1, 9 Armstrong D.J....Kaye S. (amp 2002)
    7. Thrombospondin 3 is a pentameric molecule held together by interchain disulfide linkage involving two cysteine residues. (PubMed id 7759526)1, 9 Qabar A....Dixit V. (J. Biol. Chem. 1995)
    8. Relative abundance of thrombospondin 2 and thrombospondin 3 mRNAs in human tissues. (PubMed id 10329465)1, 9 Adolph K.W. (Biochem. Biophys. Res. Commun. 1999)
    9. Effects of THBS3, SPARC and SPP1 expression on biological behavior and survival in patients with osteosarcoma. (PubMed id 17022822)1 Dalla-Torre C.A....Squire J.A. (BMC Cancer 2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (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: 7059 HGNC: 11787 AceView: THBS3 Ensembl:ENSG00000169231 euGenes: HUgn7059
    ECgene: THBS3 Kegg: 7059 H-InvDB: THBS3

    (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 THBS3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for THBS3 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 THBS3 gene:
    Search GeneIP for patents involving THBS3

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



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