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

Gene ID: 9099, updated on 13-Dec-2020

Summary

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
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]
Expression
Biased expression in testis (RPKM 31.4), kidney (RPKM 15.4) and 10 other tissues See more
Orthologs
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Genomic context

See USP2 in Genome Data Viewer
Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (119355215..119381690, 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 HNF4 motif-containing MPRA enhancer 223 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 by RNA polymerase II 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 phosphopantetheinylation IEA
Inferred from Electronic Annotation
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
centrosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_029825.2 RefSeqGene

    Range
    5037..31512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243759.2NP_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
    Consensus CDS
    CCDS58189.1
    UniProtKB/Swiss-Prot
    O75604
    Related
    ENSP00000407842.2, ENST00000455332.6
    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_004205.5NP_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, ENST00000260187.7
    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_171997.3NP_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, AP003396, BC041366
    Consensus CDS
    CCDS8423.1
    UniProtKB/Swiss-Prot
    O75604
    Related
    ENSP00000436952.1, ENST00000525735.1
    Conserved Domains (1) summary
    pfam00443
    Location:58387
    UCH; Ubiquitin carboxyl-terminal hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    119355215..119381690 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_005271721.5XP_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
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