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

USP20 Gene

protein-coding   GIFtS: 58
GCID: GC09P132596

Ubiquitin Specific Peptidase 20

(Previous name: ubiquitin specific protease 20)
  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 201 2     Ubiquitin Specific Protease 201
Deubiquitinating Enzyme 202 3     PVHL-Interacting Deubiquitinating Enzyme 22
Ubiquitin Thioesterase 202 3     Ubiquitin Carboxyl-Terminal Hydrolase 202
Ubiquitin-Specific-Processing Protease 202 3     Ubiquitin Thiolesterase 202
LSFR3A2 3     EC 3.4.19.123
VDU22 3     KIAA10033
hVDU22 3     VHL-Interacting Deubiquitinating Enzyme 23

External Ids:    HGNC: 126191   Entrez Gene: 108682   Ensembl: ENSG000001368787   OMIM: 6151435   UniProtKB: Q9Y2K63   

Export aliases for USP20 gene to outside databases

Previous GC identifers: GC09P123726 GC09P124244 GC09P126051 GC09P127973 GC09P129677 GC09P131637 GC09P102196


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

Entrez Gene summary for USP20 Gene:
This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL
(von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3
ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased
expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation
and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating
the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester
hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. (provided by
RefSeq, Jan 2013)

GeneCards Summary for USP20 Gene: 
USP20 (ubiquitin specific peptidase 20) is a protein-coding gene. Diseases associated with USP20 include von hippel-lindau disease, and hypoxia. GO annotations related to this gene include ubiquitin thiolesterase activity and G-protein coupled receptor binding. An important paralog of this gene is USP33.

UniProtKB/Swiss-Prot: UBP20_HUMAN, Q9Y2K6
Function: Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of
G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2).
Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively
binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon
dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins
deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the
ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates
HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both
'Lys-48'- and 'Lys-63'-linked polyubiquitin chains

Gene Wiki entry for USP20 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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP20 gene promoter:
         p53   Lmo2   CUTL1   AP-2gamma   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP20 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP20


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.2

USP20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP20 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P132596:  view genomic region     (about GC identifiers)

Start:
132,596,977 bp from pter      End:
132,644,107 bp from pter
Size:
47,131 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: UBP20_HUMAN, Q9Y2K6 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 20  
Size: 914 amino acids; 102003 Da
Subunit: Interacts with VHL, leading to its ubiquitination and subsequent degradation. Interacts with CCP110, DIO2
and HIF1A
Subcellular location: Cytoplasm, perinuclear region (By similarity). Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome. Note=According to PubMed:12865408, it localizes in the endoplasmic reticulum;
however the relevance of such result is unclear
Sequence caution: Sequence=BAA76847.2; Type=Erroneous initiation;
Secondary accessions: Q541F1 Q8IXQ1 Q96LG5 Q9UQN8 Q9UQP0

Explore the universe of human proteins at neXtProt for USP20: NX_Q9Y2K6

Explore proteomics data for USP20 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated via a VHL-dependent pathway for proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2K6

  • USP20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USP20 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001008563.2  NP_001103773.2  NP_006667.3  

    ENSEMBL proteins: 
     ENSP00000361506   ENSP00000313811   ENSP00000351122  

    Human Recombinant Protein Products for USP20: 
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    Novus Biologicals USP20 Proteins
    Novus Biologicals USP20 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP20 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005813centrosome IDA--
    GO:0048471perinuclear region of cytoplasm IEA--

    USP20 for ontologies           About GeneDecksing



    USP20 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for USP20 
    Cloud-Clone Corp. CLIAs for USP20


    (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

    5 InterPro protein domains:
     IPR006615 Pept_C19_DUSP
     IPR001394 Peptidase_C19
     IPR001607 Znf_UBP
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9Y2K6

    ProtoNet protein and cluster: Q9Y2K6

    3 Blocks protein domains:
    IPB001394 Ubiquitin thiolesterase
    IPB001607 Zn-finger in ubiquitin thiolesterase
    IPB006615 Ubiquitin-specific protease DUSP


    UniProtKB/Swiss-Prot: UBP20_HUMAN, Q9Y2K6
    Domain: The UBP-type zinc finger binds 3 zinc ions. However, it does not bind ubiquitin, probably because the
    conserved Arg in position 55 is replaced by a Glu residue (By similarity)
    Similarity: Belongs to the peptidase C19 family. USP20/USP33 subfamily
    Similarity: Contains 2 DUSP domains
    Similarity: Contains 1 UBP-type zinc finger


    USP20 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: UBP20_HUMAN, Q9Y2K6
    Function: Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of
    G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2).
    Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively
    binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon
    dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins
    deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the
    ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates
    HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both
    'Lys-48'- and 'Lys-63'-linked polyubiquitin chains
    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)

         Enzyme Number (IUBMB): EC 3.4.19.121

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IPI19424180
    GO:0004197cysteine-type endopeptidase activity IMP19424180
    GO:0004221ubiquitin thiolesterase activity IDA19424180
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
         
    USP20 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Usp20 (no phenotypes)

    USP20 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for USP20 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USP20

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP20 
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    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate USP20 (see all 14):
    hsa-miR-98 hsa-miR-4291 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidUSP20 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): USP20 (NM_001008563)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP20
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP20


    (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 USP20 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP20
        Ubiquitin-Proteasome Dependent Proteolysis


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USP20

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

    5/59 Interacting proteins for USP20 (Q9Y2K63 ENSP000003138114) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    RGPD5Q996663, ENSP000000169464I2D: score=2 STRING: ENSP00000016946
    RGPD6Q996663, ENSP000003308424I2D: score=2 STRING: ENSP00000330842
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0006897endocytosis IEA--
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway IMP19424180
    GO:0016579protein deubiquitination IDA19424180
    GO:0070536protein K63-linked deubiquitination IDA19424180

    USP20 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 USP20 (UBP20)

    1 HMDB Compound for USP20    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about USP20 / UBP20

    (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 USP20 gene (3 alternative transcripts): 
    NM_001008563.4  NM_001110303.3  NM_006676.7  

    Unigene Cluster for USP20:

    Ubiquitin specific peptidase 20
    Hs.5452  [show with all ESTs]
    Unigene Representative Sequence: NM_006676
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491053 ENST00000494971 ENST00000372429(uc004bys.2) ENST00000315480(uc004byr.2)
    ENST00000358355(uc004byt.1) ENST00000474895 ENST00000491731 ENST00000496927
    ENST00000472108
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate USP20 (see all 14):
    hsa-miR-98 hsa-miR-4291 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidUSP20 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): USP20 (NM_001008563)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP20
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP20

    Additional mRNA sequence: 

    AB023220.1 AY074877.1 BC033669.1 BC039593.1 

    8 DOTS entries:

    DT.95240534  DT.112115  DT.97815890  DT.100808043  DT.92410229  DT.112116  DT.91941257  DT.95350976 

    24/139 AceView cDNA sequences (see all 139):

    AI784621 BI490545 T11455 AI365119 BQ225334 BQ948911 BG281837 BE929079 
    BM788785 AI559289 BM723899 BE396904 BQ636666 AI123893 BF727179 BQ882312 
    CR589994 BI754579 CN478920 BQ018650 BE561054 AW403369 BM714570 AA322174 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for USP20 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
    SP1:                                                                                      -     -                 -                                             
    SP2:                                                                                      -     -                 -                                             
    SP3:                                                                                -     -                       -                                             
    SP4:                                                                                                                                                            
    SP5:                                                                                      -     -                                                               

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c · 25d · 25e
    SP1:                          -           -                 -                           
    SP2:                          -           -                                             
    SP3:                                                                                    
    SP4:                          -           -                                             
    SP5:                                                                                    


    ECgene alternative splicing isoforms for USP20

    (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

    USP20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTGCTGT
    USP20 Expression
    About this image


    See USP20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USP20

    SOURCE GeneReport for Unigene cluster: Hs.5452
        SABiosciences Custom PCR Arrays for USP20
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP20

    (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 USP20 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp201 , 5 ubiquitin specific peptidase 201, 5 87.49(n)1
    92.78(a)1
      2 (21.77 cM)5
    742701  NM_028846.51  NP_083122.11 
     309822795 
    chicken
    (Gallus gallus)
    Aves USP201 ubiquitin specific peptidase 20 78.62(n)
    87.44(a)
      417188  XM_415470.3  XP_415470.3 
    lizard
    (Anolis carolinensis)
    Reptilia USP206
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL344641.1(1033-26588)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ030728.12   -- 78.36(n)    BJ030728.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636612 similar to ubiquitin specific protease 20 77.34(n)   393962  BC055192.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84941 , 3 protein deubiquitination
    ubiquitin-specific protease3
    CG84941
    40(a)3
    52.81(n)1
    46.6(a)1
      365801  NM_137099.21  NP_610943.21 


    ENSEMBL Gene Tree for USP20 (if available)
    TreeFam Gene Tree for USP20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP20 gene
    USP332  USP212  USP82  USP22  USP502  
    2 SIMAP similar genes for USP20 using alignment to 1 protein entry:     UBP20_HUMAN:
    DKFZp586N041    USP33

    USP20 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) 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

    10/1482 SNPs in USP20 are shown (see all 1482)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38414541,2
    C--102197983(-) ACCCCC/-TGGAC 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs38414531,2
    C--102198085(-) TTCTTG/-CCCTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs106067831,2
    C--102201227(+) CTGAC-/TTGTTGTA 3 -- int11Minor allele frequency- TTG:0.50NA 2
    rs1116569831,2
    C--102204226(+) AATAAT/-TTTTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs339395241,2
    C--102221539(+) AAAGA-/A/AA  
            
    AAAAA
    3 -- int10--------
    rs575958541,2
    C--102221549(+) AAAAA-/A/AA  
            
    CGTCT
    3 -- int11NA 2
    rs352462341,2
    C--102227436(+) CCTCT-/CTTACCCC 3 -- cds10--------
    rs2013790071,2
    C--102229593(+) TTGACC/GACCAG 6 H D mis10--------
    rs1838512541,2
    --102232174(+) TCTCTC/TTTTTT 3 -- int10--------
    rs597126621,2
    C--102234305(+) TTTTT-/TTTT  
      
    /TTTTT
    GAGAT
    3 -- int11NA 2

    HapMap Linkage Disequilibrium report for USP20 (132596977 - 132644107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for USP20:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1323037CNV Insertion17803354
    esv1000693CNV Insertion20482838
    esv24598CNV Loss19812545
    nsv469902CNV Loss18288195
    nsv517374CNV Loss19592680
    nsv893928CNV Loss21882294
    nsv893929CNV Gain21882294
    nsv8571CNV Gain18304495
    dgv2422e1CNV Complex17122850

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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: 615143    OMIM disorders: --

    5 diseases for USP20:    About MalaCards
    von hippel-lindau disease    hypoxia    t-cell leukemia    thyroiditis
    leukemia


    USP20 for disorders           About GeneDecksing

    Genetic Association Database (GAD): USP20
    Human Genome Epidemiology (HuGE) Navigator: USP20 (2 documents)

    Export disorders for USP20 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 USP20 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with USP20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. VHL protein-interacting deubiquitinating enzyme 2 deubiquitinates and stabilizes HIF-1alpha. (PubMed id 15776016)1, 2, 9 Li Z.... Wu G. (2005)
    2. USP33 regulates centrosome biogenesis via deubiquitination of the centriolar protein CP110. (PubMed id 23486064)1, 2 Li J.... Dynlacht B.D. (2013)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    4. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    5. The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization. (PubMed id 19424180)1, 2 Berthouze M.... Shenoy S.K. (2009)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Deubiquitination of type 2 iodothyronine deiodinase by von Hippel- Lindau protein-interacting deubiquitinating enzymes regulates thyroid hormone activation. (PubMed id 12865408)1, 2 Curcio-Morelli C.... Bianco A.C. (2003)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    9. Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor. (PubMed id 12056827)1, 2 Li Z.... Wu G. (2002)
    10. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10868 HGNC: 12619 AceView: USP20 Ensembl:ENSG00000136878 euGenes: HUgn10868
    ECgene: USP20 H-InvDB: USP20

    (According to HUGE)
    About This Section
    HUGE: KIAA1003

    (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 USP20 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for USP20 gene:
    Search GeneIP for patents involving USP20

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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