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    USP2 ubiquitin specific peptidase 2 [ Homo sapiens (human) ]

    Gene ID: 9099, updated on 5-Nov-2017
    Official Symbol
    USP2provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 2provided by HGNC
    Primary source
    HGNC:HGNC:12618
    See related
    Ensembl:ENSG00000036672 MIM:604725; Vega:OTTHUMG00000166200
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    USP9; UBP41
    Summary
    This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
    Orthologs
    Location:
    11q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (119355215..119381726, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119225925..119252436, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 26 Neighboring gene C1q and TNF related 5 Neighboring gene membrane frizzled-related protein Neighboring gene USP2 antisense RNA 1 (head to head) Neighboring gene major facilitator superfamily domain containing 14B pseudogene Neighboring gene Thy-1 cell surface antigen

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
      Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Regulation of TNFR1 signaling, organism-specific biosystem (from REACTOME)
      Regulation of TNFR1 signaling, organism-specific biosystemTumor necrosis factor-alpha (TNFalpha) is an inflammatory cytokine, that activates either cell survival (e.g.,inflammation, proliferation) or cell death upon association with TNF receptor 1 (TNFR1). ...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
    • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • TNF signaling, organism-specific biosystem (from REACTOME)
      TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...
    • TNFR1-induced NFkappaB signaling pathway, organism-specific biosystem (from REACTOME)
      TNFR1-induced NFkappaB signaling pathway, organism-specific biosystemActivation of tumor necrosis factor receptor 1 (TNFR1) can trigger multiple signal transduction pathways to induce inflammation, cell proliferation, survival or cell death (Ward C et al. 1999; Michea...
    • TNFR1-induced proapoptotic signaling, organism-specific biosystem (from REACTOME)
      TNFR1-induced proapoptotic signaling, organism-specific biosystemActivation of tumor necrosis factor receptor 1 (TNFR1) can trigger multiple signal transduction pathways to induce cell survival or cell death (Ward C et al. 1999; Micheau O and Tschopp J 2003; Wider...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cyclin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    circadian behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    locomotor rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 2
    Names
    41 kDa ubiquitin-specific protease
    deubiquitinating enzyme 2
    ubiquitin specific protease 12
    ubiquitin specific protease 9
    ubiquitin thioesterase 2
    ubiquitin-specific-processing protease 2
    NP_001230688.1
    NP_004196.4
    NP_741994.1
    XP_005271778.1
    XP_005271779.1
    XP_016874028.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029825.1 RefSeqGene

      Range
      5001..31512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243759.1NP_001230688.1  ubiquitin carboxyl-terminal hydrolase 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region, compared to variant 1. The resulting isoform (c) has a shorter and different N-terminus compared to isoform a.
      Source sequence(s)
      AP003396, BC041366, DB065104, DB088349
      Consensus CDS
      CCDS58189.1
      UniProtKB/Swiss-Prot
      O75604
      Related
      ENSP00000407842.2, OTTHUMP00000232157, ENST00000455332.6, OTTHUMT00000388362
      Conserved Domains (2) summary
      cd02674
      Location:25354
      Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:23353
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. NM_004205.4NP_004196.4  ubiquitin carboxyl-terminal hydrolase 2 isoform a

      See identical proteins and their annotated locations for NP_004196.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AI806430, AK057225, BC002955, BC041366, DB065104, DB098786
      Consensus CDS
      CCDS8422.1
      UniProtKB/Swiss-Prot
      O75604
      Related
      ENSP00000260187.2, OTTHUMP00000232156, ENST00000260187.6, OTTHUMT00000388361
      Conserved Domains (2) summary
      cd02674
      Location:268597
      Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:266596
      UCH; Ubiquitin carboxyl-terminal hydrolase
    3. NM_171997.2NP_741994.1  ubiquitin carboxyl-terminal hydrolase 2 isoform b

      See identical proteins and their annotated locations for NP_741994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing 2 exons from the 5' end, and contains an alternate 5' terminal exon compared to transcript variant 1. This results in a shorter isoform (b) with a different N-terminus compared to isoform a.
      Source sequence(s)
      AF440755, AI806430, AK057225, BC041366
      Consensus CDS
      CCDS8423.1
      UniProtKB/Swiss-Prot
      O75604
      Related
      ENSP00000436952.1, OTTHUMP00000232158, ENST00000525735.1, OTTHUMT00000388363
      Conserved Domains (2) summary
      cd02674
      Location:59388
      Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:57387
      UCH; Ubiquitin carboxyl-terminal hydrolase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      119355215..119381726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018539.1XP_016874028.1  ubiquitin carboxyl-terminal hydrolase 2 isoform X2

    2. XM_005271721.4XP_005271778.1  ubiquitin carboxyl-terminal hydrolase 2 isoform X1

      See identical proteins and their annotated locations for XP_005271778.1

      UniProtKB/Swiss-Prot
      O75604
      Conserved Domains (2) summary
      cd02674
      Location:268597
      Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:266596
      UCH; Ubiquitin carboxyl-terminal hydrolase
    3. XM_005271722.2XP_005271779.1  ubiquitin carboxyl-terminal hydrolase 2 isoform X1

      See identical proteins and their annotated locations for XP_005271779.1

      UniProtKB/Swiss-Prot
      O75604
      Conserved Domains (2) summary
      cd02674
      Location:268597
      Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:266596
      UCH; Ubiquitin carboxyl-terminal hydrolase

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      119112501..119139031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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