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

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; AllianceGenome:HGNC:12618
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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (119355215..119381690, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (119376744..119403221, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (119225925..119252400, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Age-related genes USP2 and ARG2 are involved in the reduction of immune cell infiltration in elderly patients with rheumatoid arthritis.
Title: Age-related genes USP2 and ARG2 are involved in the reduction of immune cell infiltration in elderly patients with rheumatoid arthritis.
USP2 Inhibits Lung Cancer Pathogenesis by Reducing ARID2 Protein Degradation via Ubiquitination.
Title: USP2 Inhibits Lung Cancer Pathogenesis by Reducing ARID2 Protein Degradation via Ubiquitination.
Ubiquitin-Specific Protease 2 in the Ventromedial Hypothalamus Modifies Blood Glucose Levels by Controlling Sympathetic Nervous Activation.
Title: Ubiquitin-Specific Protease 2 in the Ventromedial Hypothalamus Modifies Blood Glucose Levels by Controlling Sympathetic Nervous Activation.
Loss of deubiquitylase USP2 triggers development of glioblastoma via TGF-beta signaling.
Title: Loss of deubiquitylase USP2 triggers development of glioblastoma via TGF-β signaling.
High Ubiquitin-Specific Protease 2a Expression Level Predicts Poor Prognosis in Upper Tract Urothelial Carcinoma.
Title: High Ubiquitin-Specific Protease 2a Expression Level Predicts Poor Prognosis in Upper Tract Urothelial Carcinoma.
Ubiquitin-specific peptidase 2 inhibits epithelial-mesenchymal transition in clear cell renal cell carcinoma metastasis by downregulating the NF-kappaB pathway.
Title: Ubiquitin-specific peptidase 2 inhibits epithelial-mesenchymal transition in clear cell renal cell carcinoma metastasis by downregulating the NF-κB pathway.
Decreased USP2a Expression Inhibits Trophoblast Invasion and Associates With Recurrent Miscarriage.
Title: Decreased USP2a Expression Inhibits Trophoblast Invasion and Associates With Recurrent Miscarriage.
USP2 is an SKP2 deubiquitylase that stabilizes both SKP2 and its substrates.
Title: USP2 is an SKP2 deubiquitylase that stabilizes both SKP2 and its substrates.
Ubiquitin-specific protease 2a promotes hepatocellular carcinoma progression via deubiquitination and stabilization of RAB1A.
Title: Ubiquitin-specific protease 2a promotes hepatocellular carcinoma progression via deubiquitination and stabilization of RAB1A.
The deubiquitylase USP2 maintains ErbB2 abundance via counteracting endocytic degradation and represents a therapeutic target in ErbB2-positive breast cancer.
Title: The deubiquitylase USP2 maintains ErbB2 abundance via counteracting endocytic degradation and represents a therapeutic target in ErbB2-positive breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ksks269 (e-PCR)
- UniSTS:514307

RH123652 (e-PCR)
- UniSTS:136074

SHGC-37028 (e-PCR)
- UniSTS:54504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type deubiquitinase activity	TAS Traceable Author Statement more info
enables cysteine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in circadian behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in entrainment of circadian clock by photoperiod	ISS Inferred from Sequence or Structural Similarity more info
involved_in locomotor rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of signal transduction by p53 class mediator	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 3.4.19.12

NP_004196.4

EC 3.4.19.12

NP_741994.1

EC 3.4.19.12

XP_005271778.1

EC 3.4.19.12

XP_005271779.1

EC 3.4.19.12

XP_016874028.1

EC 3.4.19.12

XP_054226438.1

EC 3.4.19.12

XP_054226439.1

EC 3.4.19.12

XP_054226440.1

EC 3.4.19.12

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

NG_029825.2 RefSeqGene

Range

5037..31512

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243759.2 → NP_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/TrEMBL

B7Z7C2

Related

ENSP00000407842.2, ENST00000455332.6

Conserved Domains (2) summary

cd02674
Location:25 → 354

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:23 → 353

UCH; Ubiquitin carboxyl-terminal hydrolase
NM_004205.5 → NP_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

B0YJB8, E9PPM2, O75604, Q8IUM2, Q8IW04, Q96MB9, Q9BQ21

Related

ENSP00000260187.2, ENST00000260187.7

Conserved Domains (1) summary

pfam00443
Location:267 → 596

UCH; Ubiquitin carboxyl-terminal hydrolase
NM_171997.3 → NP_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/TrEMBL

B7Z7C2

Related

ENSP00000436952.1, ENST00000525735.1

Conserved Domains (1) summary

pfam00443
Location:58 → 387

UCH; Ubiquitin carboxyl-terminal hydrolase