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

USP6 Gene

protein-coding   GIFtS: 62
GCID: GC17P005019

Ubiquitin Specific Peptidase 6 (Tre-2 Oncogene)

(Previous name: ubiquitin specific protease 6 (Tre-2 oncogene))
(Previous symbol: HRP1)
  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)
About This Section

Aliases
Ubiquitin Specific Peptidase 6 (Tre-2 Oncogene)1 2     TRE172
HRP11 2 3     Tre-22
TRE22 3 5     USP6-short2
Ubiquitin Specific Protease 6 (Tre-2 Oncogene)1 2     Hyperpolymorphic Gene 12
TBC1D3 And USP32 Fusion1 2     Tre-2 Oncogene2
Ubiquitin Carboxyl-Terminal Hydrolase 61 2     Ubiquitin Specific Peptidase 6-2
Deubiquitinating Enzyme 62 3     Ubiquitin Thiolesterase 62
Proto-Oncogene TRE-22 3     Ubiquitin-Specific Protease USP62
Ubiquitin Thioesterase 62 3     EC 3.4.19.123
Ubiquitin-Specific-Processing Protease 62 3     EC 3.1.2.158

External Ids:    HGNC: 126291   Entrez Gene: 90982   Ensembl: ENSG000001292047   OMIM: 6043345   UniProtKB: P351253   

Export aliases for USP6 gene to outside databases

Previous GC identifers: GC17P005451 GC17P005369 GC17P004976 GC17P005232 GC17P004972 GC17P004921


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for USP6 Gene: 
USP6 (ubiquitin specific peptidase 6 (Tre-2 oncogene)) is a protein-coding gene. Diseases associated with USP6 include telangiectatic osteogenic sarcoma, and childhood kidney cell carcinoma. GO annotations related to this gene include ubiquitin thiolesterase activity and nucleic acid binding. An important paralog of this gene is USP45.

UniProtKB/Swiss-Prot: UBP6_HUMAN, P35125
Function: Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the
ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows
deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent
endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix
metalloproteinases following NF-kappa-B activation

Gene Wiki entry for USP6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP6 gene promoter:
         GR   AP-2alpha isoform 3   GR-beta   AP-2alpha isoform 2   YY1   PPAR-alpha   GR-alpha   AP-2alpha isoform 4   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP6 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP6


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

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13

USP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P005019:  view genomic region     (about GC identifiers)

Start:
5,019,733 bp from pter      End:
5,078,329 bp from pter
Size:
58,597 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBP6_HUMAN, P35125 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 6  
Size: 1406 amino acids; 158658 Da
Subunit: Interacts with RAC1 and CDC42. Interacts (via Rab-GAP TBC domain) with ARF6. Interacts with calmodulin
(CALM1, CALM2 and/or CALM3); the interaction is calcium-dependent
Subcellular location: Cell membrane. Cytoplasm. Endosome. Note=Localizes to the plasma membrane and to filamentous
structures within the cell corresponding to ARF6 regulated tubular endosomes. Activation of RAC1 and CDC42 can
direct the relocalization of USP6 to the plasma membrane in a manner that depends on the integrity of the actin
cytoskeleton
Miscellaneous: The USP6 gene only exists in the primate lineage
Secondary accessions: Q15634 Q86WP6 Q8IWT4
Alternative splicing: 3 isoforms:  P35125-1   P35125-2   P35125-3   (Was shown to be tumorigenic in transfected mice and seems not to act as GTPase activating protein)

Explore the universe of human proteins at neXtProt for USP6: NX_P35125

Explore proteomics data for USP6 at MOPED 

Post-translational modifications:

  • UniProtKB: Monubiquitinated; ubiquitination is calmodulin and calcium dependent
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35125

  • 4/6 DME Specific Peptides for USP6 (P35125) (see all 6)
     NLGNTCF  FLLDGLH  LIIHLKR  GNTCFMN 

    USP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USP6 Protein Expression
    REFSEQ proteins: NP_004496.2  
    ENSEMBL proteins: 
     ENSP00000460380   ENSP00000461817   ENSP00000461581   ENSP00000250066   ENSP00000328010  
     ENSP00000305473  

    Human Recombinant Protein Products for USP6: 
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    Novus Biologicals USP6 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP6 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA12612085
    GO:0005764lysosome TAS9827704
    GO:0005886plasma membrane IDA12612085
    GO:0055037recycling endosome IDA15509780

    USP6 for ontologies           About GeneDecksing



    USP6 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for USP6 

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    Cloud-Clone Corp. ELISAs for USP6 
    Cloud-Clone Corp. CLIAs for USP6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    USP: Ubiquitin-specific peptidases

    3 InterPro protein domains:
     IPR001394 Peptidase_C19
     IPR000195 Rab-GTPase-TBC_dom
     IPR018200 Pept_C19ubi-hydrolase_C_CS

    Graphical View of Domain Structure for InterPro Entry P35125

    ProtoNet protein and cluster: P35125

    2 Blocks protein domains:
    IPB000195 RabGAP/TBC domain
    IPB001394 Ubiquitin thiolesterase


    UniProtKB/Swiss-Prot: UBP6_HUMAN, P35125
    Domain: The Rab-GAP TBC domain lacks GTPase activator activity but is necessary for interaction with ARF6
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 Rab-GAP TBC domain


    USP6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP6_HUMAN, P35125
    Function: Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the
    ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows
    deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent
    endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix
    metalloproteinases following NF-kappa-B activation
    Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Genatlas biochemistry entry for USP6:
    ubiquitin specific protease 6,hyperpolymorphic gene 1,deubiquitin enzyme family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding TAS1565468
    GO:0004197cysteine-type endopeptidase activity TAS9827704
    GO:0004221ubiquitin thiolesterase activity IEA--
    GO:0004843ubiquitin-specific protease activity IDA16127172
    GO:0005097Rab GTPase activator activity IEA--
         
    USP6 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for USP6:
     Decreased p24 protein expressi  G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for USP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP6 

    miRNA
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    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate USP6 (see all 78):
    hsa-miR-300 hsa-miR-411 hsa-miR-106a hsa-miR-938 hsa-miR-519a hsa-miR-371-5p hsa-miR-4275 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidUSP6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): USP6 (NM_001946)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP6
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                         Customized lentivirus expression plasmids for stable overexpression of USP6 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP6


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for USP6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Arf6 signaling events
    Arf6 signaling events
    2Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP6
        Ubiquitin-Proteasome Dependent Proteolysis

    1 BioSystems Pathway for USP6
        Arf6 signaling events


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USP6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/14 Interacting proteins for USP6 (P351251, 2, 3 ENSP000002500664) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7L3Q14CW92, 3, ENSP000003972594MINT-2865886 I2D: score=3 STRING: ENSP00000397259
    MYL2P109161, 3, ENSP000002288414EBI-954590,EBI-725770 I2D: score=1 STRING: ENSP00000228841
    CALM2P621583, ENSP000002722984I2D: score=1 STRING: ENSP00000272298
    CALM1P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process NAS9827704
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0016579protein deubiquitination IDA16127172
    GO:0032313regulation of Rab GTPase activity ----
    GO:0060627regulation of vesicle-mediated transport IDA15509780

    USP6 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for USP6 (UBP6)

    1 HMDB Compound for USP6    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about USP6 / UBP6

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for USP6 gene (2 alternative transcripts): 
    NM_005152.1  NM_004505.2  

    Unigene Cluster for USP6:

    Ubiquitin specific peptidase 6 (Tre-2 oncogene)
    Hs.448851  [show with all ESTs]
    Unigene Representative Sequence: BX647719
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574788(uc002gau.1) ENST00000575709 ENST00000572949 ENST00000250066(uc002gav.1)
    ENST00000572429 ENST00000357482(uc002gaw.3) ENST00000332776 ENST00000304328(uc010ckz.1)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP6
    8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate USP6 (see all 78):
    hsa-miR-300 hsa-miR-411 hsa-miR-106a hsa-miR-938 hsa-miR-519a hsa-miR-371-5p hsa-miR-4275 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidUSP6 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP6
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    OriGene clones in human, mouse for USP6 (see all 8)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP6 (NM_001946)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP6
    Sirion Biotech Customized lentivirus for stable overexpression of USP6 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USP6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP6

    Additional mRNA sequence: 

    AB449915.1 AY143550.1 BX647719.1 HQ326700.1 X78261.1 

    9 DOTS entries:

    DT.100037996  DT.100824934  DT.101984339  DT.120915753  DT.102834044  DT.304019  DT.95289961  DT.120953569 
    DT.97776537 

    24/50 AceView cDNA sequences (see all 50):

    AL041793 AL044255 AL042528 BC029495 BE044069 AL042432 AY143550 BV202001 
    X63546 AA813383 BV200177 BV200178 AL696358 AA922552 BV200183 BV200185 
    BX503609 BX508457 AA328699 BV185478 AU117329 AI147443 X63547 AI419876 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    USP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USP6 Expression
    About this image


    See USP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USP6

    SOURCE GeneReport for Unigene cluster: Hs.448851

    UniProtKB/Swiss-Prot: UBP6_HUMAN, P35125
    Tissue specificity: Testis specific. Expressed in various cancer cell lines

        SABiosciences Custom PCR Arrays for USP6
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for USP6 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    48(a)
    1 → many
    19(8022791-8082431)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    41(a)
    1 → many
    GL343393.1(400024-453166)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118642 Transcribed sequences 85.12(n)    CF242629.1 
    zebrafish
    (Danio rerio)
    Actinopterygii USP326
    Ubiquitin carboxyl-terminal hydrolase
    43(a)
    1 → many
    15(23173037-23262153)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG83346
    --
    23(a)
    1 → many
    3L(19864239-19874884)
    worm
    (Caenorhabditis elegans)
    Secernentea H34C03.23 ubiquitin carboxy-terminal hydrolase 51(a)   IV(6757531-6761964)   --
            Species with no ortholog for USP6

    ENSEMBL Gene Tree for USP6 (if available)
    TreeFam Gene Tree for USP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP6 gene
    USP452  USP192  USP152  USP112  USP162  USP312  USP432  USP322  
    USP42  
    12 SIMAP similar genes for USP6 using alignment to 2 protein entries:     UBP6_HUMAN (see all proteins):
    USP6-short    tre    USP32    TBC1D3F    TBC1D3G    TBC1D3H
    TBC1D3C    TBC1D3B    TBC1D3    TBC1D29    USP15    DKFZp761E10121

    USP6 for paralogs           About GeneDecksing


    5/19 Pseudogenes.org Pseudogenes for USP6 (see all 19)
    PGOHUM00000250808 PGOHUM00000237001 PGOHUM00000237047 PGOHUM00000237053 PGOHUM00000237061


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1088 SNPs in USP6 are shown (see all 1088)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0515244
    ----see VAR_0515242 I V mis40--------
    rs1889558151,2
    --5029824(+) ATCAAC/GAGTAA 1 -- us2k10--------
    rs1148421851,2
    F--5029835(+) CTCGAC/TCTCCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs129508551,2
    C--5030059(+) GACGGT/CTGGAC 1 -- us2k112Minor allele frequency- C:0.01NA WA CSA EA 373
    rs1125055601,2
    C--5030243(+) CCCACA/GTGGCT 1 -- us2k10--------
    rs1863138651,2
    --5030297(+) ACCTGC/GCCACG 1 -- us2k10--------
    rs65028451,2
    C,F--5030527(+) TCCGCA/CGCCCC 1 -- us2k14Minor allele frequency- C:0.12NA WA 8
    rs1141494141,2
    F--5030831(+) GGAGTC/TGGGGG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1502143471,2
    --5031040(+) ACCTAA/GTATTT 1 -- us2k10--------
    rs1389003021,2
    --5031090(+) ATCTCG/TAGATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for USP6 (5019733 - 5078329 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv907624CNV Loss21882294
    nsv907620CNV Loss21882294
    esv25210CNV Gain19812545

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604334    OMIM disorders: --

    UniProtKB/Swiss-Prot: UBP6_HUMAN, P35125
  • Note=A chromosomal aberration involving USP6 is a common genetic feature of aneurysmal bone cyst, a
    benign osseous neoplasm. Translocation t(16;17)(q22;p13) with CDH11. The translocation generates a fusion gene in
    which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional
    up-regulation

  • 10 diseases for USP6:    About MalaCards
    telangiectatic osteogenic sarcoma    childhood kidney cell carcinoma    giant cell reparative granuloma    myositis ossificans
    aneurysmal bone cysts    cherubism    chondroblastoma    myositis
    sarcoma    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for USP6:
    Telangiectatic osteogenic sarcoma     Myositis ossificans

    USP6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): USP6
    Human Genome Epidemiology (HuGE) Navigator: USP6 (1 document)

    Export disorders for USP6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for USP6 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with USP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. (PubMed id 15026324)1, 2, 9 Oliveira A.M.... Fletcher J.A. (2004)
    2. The Tre2 (USP6) oncogene is a hominoid-specific gene. (PubMed id 12604796)1, 2, 9 Paulding C.A.... Haber D.A. (2003)
    3. Expression in a RabGAP yeast mutant of two human homologues, one of which is an oncogene. (PubMed id 14521938)1, 2, 9 Bizimungu C.... Vandenbol M. (2003)
    4. TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-kappaB. (PubMed id 20418905)1, 2 Ye Y.... Chou M.M. (2010)
    5. Calcium/calmodulin regulates ubiquitination of the ubiquitin-specific protease TRE17/USP6. (PubMed id 16127172)1, 2 Shen C....Chou M.M. (2005)
    6. The TBC (Tre-2/Bub2/Cdc16) domain protein TRE17 regulates plasma membrane-endosomal trafficking through activation of Arf6. (PubMed id 15509780)1, 2 Martinu L....Chou M.M. (2004)
    7. The TRE17 oncogene encodes a component of a novel effector pathway for Rho GTPases Cdc42 and Rac1 and stimulates actin remodeling. (PubMed id 12612085)1, 2 Masuda-Robens J.M....Chou M.M. (2003)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    9. The yeast DOA4 gene encodes a deubiquitinating enzyme related to a product of the human tre-2 oncogene. (PubMed id 8247125)1, 2 Papa F.R. and Hochstrasser M. (1993)
    10. De-novo mutation in hereditary motor and sensory neuropathy type I. (PubMed id 1349106)1, 3 Hoogendijk J.E....Baas F. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 9098 HGNC: 12629 AceView: USP6 Ensembl:ENSG00000129204 euGenes: HUgn9098
    ECgene: USP6 H-InvDB: USP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for USP6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for USP6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for USP6 gene:
    Search GeneIP for patents involving USP6

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



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