The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] See more...

Aliases for USP4 Gene

Aliases for USP4 Gene

  • Ubiquitin Specific Peptidase 4 2 3 5
  • Ubiquitin Specific Peptidase 4 (Proto-Oncogene) 2 3
  • Ubiquitin Carboxyl-Terminal Hydrolase 4 3 4
  • Ubiquitous Nuclear Protein Homolog 3 4
  • Deubiquitinating Enzyme 4 3 4
  • Ubiquitin Thioesterase 4 3 4
  • Unph 2 3
  • UNP 3 4
  • Ubiquitin Specific Protease 4 (Proto-Oncogene) 3
  • Ubiquitin-Specific Processing Protease 4 3
  • Ubiquitin-Specific-Processing Protease 4 4
  • Ubiquitin Carboxyl-Terminal Esterase 4 3
  • Ubiquitin Thiolesterase 4 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP4 5
  • UNPH 4

External Ids for USP4 Gene

Previous HGNC Symbols for USP4 Gene

  • UNP

Previous GeneCards Identifiers for USP4 Gene

  • GC03P048745
  • GC03P048551
  • GC03M049160
  • GC03M049274
  • GC03M049290
  • GC03M049315

Summaries for USP4 Gene

Entrez Gene Summary for USP4 Gene

  • The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for USP4 Gene

USP4 (Ubiquitin Specific Peptidase 4) is a Protein Coding gene. Diseases associated with USP4 include Oculopharyngeal Muscular Dystrophy. Among its related pathways are Signaling by GPCR and TNF signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP15.

UniProtKB/Swiss-Prot Summary for USP4 Gene

  • Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16472766, PubMed:16339847, PubMed:20595234, PubMed:22347420, PubMed:25404403). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847).

Gene Wiki entry for USP4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP4 Gene

Genomics for USP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 265 -5.1 -5089 16 SP1 ZNF207 NCOR1 MYC ZNF600 IKZF1 ZNF592 POLR2A CEBPA BRCA1 USP4 lnc-TCTA-3 AMT WDR6 QRICH1 RBM6 ENSG00000235236 DALRD3 RHOA IP6K2
GH03J049408 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -72.6 -72620 9.9 BCLAF1 SP1 ZNF207 MYC ZNF600 SSRP1 ZNF580 ZMYM3 KLF9 POLR2A AMT HSALNG0025940 RHOA TCTA lnc-RHOA-1 WDR6 INKA1 RNA5SP130 DAG1 USP4
GH03J049170 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 +168.0 168004 5.4 NCOR1 MYC IKZF1 ZNF600 ZNF592 KLF9 POLR2A NFIC ZIC2 CHD4 HSALNG0025921 KLHDC8B WDR6 AMT IHO1 LAMB2 C3orf62 USP4 QARS1 HSALNG0025920
GH03J049248 Enhancer 0.9 FANTOM5 ENCODE 19.8 +91.7 91719 1.3 ATF2 CEBPA RXRA JUND ATF1 ZNF318 MYC MAX ZC3H8 GLIS1 AMT WDR6 USP4 C3orf62 LAMB2 KLHDC8B CCDC71 DALRD3 RHOA ARIH2
GH03J048617 Enhancer 1 Ensembl ENCODE 12.7 +721.7 721722 3.6 SSRP1 CEBPA CHD4 MXD4 KLF11 HOMEZ KMT2B THAP11 FOXA2 KDM6A piR-50437-469 QRICH1 ZNF589 MRPS18AP1 ATRIP NME6 USP4 IP6K2 TMEM89 RHOA-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP4

Top Transcription factor binding sites by QIAGEN in the USP4 gene promoter:
  • ATF-2
  • c-Jun
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for USP4 Gene

Latest Assembly
chr3:49,277,144-49,340,712
(GRCh38/hg38)
Size:
63,569 bases
Orientation:
Minus strand

Previous Assembly
chr3:49,314,577-49,377,486
(GRCh37/hg19 by Entrez Gene)
Size:
62,910 bases
Orientation:
Minus strand

chr3:49,315,264-49,378,145
(GRCh37/hg19 by Ensembl)
Size:
62,882 bases
Orientation:
Minus strand

Genomic View for USP4 Gene

Genes around USP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP4 Gene

Proteins for USP4 Gene

  • Protein details for USP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13107-UBP4_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 4
    Protein Accession:
    Q13107
    Secondary Accessions:
    • A8K6Y0
    • C9IY91
    • O43452
    • O43453
    • Q08AK8

    Protein attributes for USP4 Gene

    Size:
    963 amino acids
    Molecular mass:
    108565 Da
    Quaternary structure:
    • Interacts with RB1 (both dephosphorylated and hypophosphorylated forms) (PubMed:11571652). Interacts with RBL1 and RBL2 (By similarity). Interacts with ADORA2A (via cytoplasmic C-terminus); the interaction is direct (PubMed:16339847). Interacts with SART3; recruits USP4 to its substrate PRPF3 (PubMed:20595234).

    Three dimensional structures from OCA and Proteopedia for USP4 Gene

    Alternative splice isoforms for USP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP4 Gene

Selected DME Specific Peptides for USP4 Gene

Q13107:
  • DSRWFKQWKKYVGFDSWD
  • QPQKKKK
  • SARPYVYDLIAVSNHYGAMGVGHYTAYAKN
  • AAYVLFY
  • RLWNKYMSNT
  • HQQATKK
  • RNDSVIVD
  • TLPVYFRE
  • LKEHLIDELDY
  • CIELFTT
  • FLLDGLH
  • RDDIFVYEV
  • KWYYFDD
  • QPGLCGL
  • FHGLFKSTLVCPECAK
  • NEDGTWPR
  • GNTCFMN
  • RFAPQFSG
  • FVKHCKVEVYL
  • QQQDSQELL
  • NPLGMKGE
  • DGLHEDLN
  • DPWYCPNCK
  • NLGNTCF
  • YAELIKQMWSG

Post-translational modifications for USP4 Gene

  • Monoubiquitinated by TRIM21. Ubiquitination does not lead to its proteasomal degradation. Autodeubiquitinated.
  • Ubiquitination at Lys186, Lys632, Lys811, and Lys837
  • Modification sites at PhosphoSitePlus

Other Protein References for USP4 Gene

Domains & Families for USP4 Gene

Gene Families for USP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for USP4 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2
  • Ubiquitin-specific protease DUSP
  • Ubiquitin carboxyl-terminal hydrolase, N-terminal region 2

Suggested Antigen Peptide Sequences for USP4 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (Q08AK7_HUMAN)
  • Ubiquitous nuclear protein homolog (UBP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13107

UniProtKB/Swiss-Prot:

UBP4_HUMAN :
  • The DUSP and ubiquitin-like 1 domains promote ubiquitin release and thus enhance USB4 catalytic activity. However, these domains do not bind ubiquitin.
  • Belongs to the peptidase C19 family. USP4 subfamily.
Domain:
  • The DUSP and ubiquitin-like 1 domains promote ubiquitin release and thus enhance USB4 catalytic activity. However, these domains do not bind ubiquitin.
Family:
  • Belongs to the peptidase C19 family. USP4 subfamily.
genes like me logo Genes that share domains with USP4: view

Function for USP4 Gene

Molecular function for USP4 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16472766, PubMed:16339847, PubMed:20595234, PubMed:22347420, PubMed:25404403). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:16316627, ECO:0000269|PubMed:16339847, ECO:0000269|PubMed:16472766, ECO:0000269|PubMed:20595234, ECO:0000269|PubMed:22347420, ECO:0000269|PubMed:25404403};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.15 uM for ubiquitin-rhodamine {ECO:0000269|PubMed:25404403};
UniProtKB/Swiss-Prot EnzymeRegulation:
The completion of the deubiquitinase reaction is mediated by the DUSP and ubiquitin-like 1 domains which promotes the release of ubiquitin from the catalytic site enabling subsequent reactions to occur.
GENATLAS Biochemistry:
ubiquitin-specific protease 4,homolog to murine Unp,with two tissue specific cytoplasmic isoforms,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP4 Gene

Phenotypes From GWAS Catalog for USP4 Gene

Gene Ontology (GO) - Molecular Function for USP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,IDA 16316627
GO:0005515 protein binding IPI 16339847
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP4: view
genes like me logo Genes that share phenotypes with USP4: view

Animal Models for USP4 Gene

MGI Knock Outs for USP4:
  • Usp4 Usp4<tm1Xilu>
  • Usp4 Usp4<tm1a(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP4

miRNA for USP4 Gene

miRTarBase miRNAs that target USP4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP4

Clone products for research

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP4 Gene

Localization for USP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP4 Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and cytoplasm. Exported to the cytoplasm in a CRM1-dependent manner and recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The relative amounts found in the nucleus and cytoplasm vary according to the cell type. {ECO:0000269 PubMed:16316627, ECO:0000269 PubMed:20595234}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP4 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
lysosome 4
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 16339847
GO:0005737 cytoplasm IEA,IDA 16316627
GO:0005764 lysosome TAS 9827704
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with USP4: view

Pathways & Interactions for USP4 Gene

genes like me logo Genes that share pathways with USP4: view

Pathways by source for USP4 Gene

1 Qiagen pathway for USP4 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for USP4 Gene

Gene Ontology (GO) - Biological Process for USP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IMP 20595234
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016579 protein deubiquitination TAS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with USP4: view

No data available for SIGNOR curated interactions for USP4 Gene

Drugs & Compounds for USP4 Gene

(2) Drugs for USP4 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
PR-619 Pharma Deubiquitylating enzymes (DBUs) inhibitor 0

(1) ApexBio Compounds for USP4 Gene

Compound Action Cas Number
PR-619 Deubiquitylating enzymes (DBUs) inhibitor 2645-32-1
genes like me logo Genes that share compounds with USP4: view

Drug products for research

Transcripts for USP4 Gene

mRNA/cDNA for USP4 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for USP4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^
SP1: - - - - -
SP2: - - - - - - -
SP3:
SP4:
SP5: - -
SP6:
SP7: - -
SP8:
SP9: - -
SP10:
SP11: - - -

ExUns: 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for USP4 Gene

GeneLoc Exon Structure for
USP4

Expression for USP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP4 Gene

Protein differential expression in normal tissues from HIPED for USP4 Gene

This gene is overexpressed in Monocytes (9.5), Peripheral blood mononuclear cells (6.5), CD8 Tcells (6.0), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP4 Gene



Protein tissue co-expression partners for USP4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP4

SOURCE GeneReport for Unigene cluster for USP4 Gene:

Hs.77500

mRNA Expression by UniProt/SwissProt for USP4 Gene:

Q13107-UBP4_HUMAN
Tissue specificity: Overexpressed in small cell tumors and adenocarcinomas of the lung compared to wild-type lung (at protein level). Expressed in the hippocampal neurons.

Evidence on tissue expression from TISSUES for USP4 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Intestine(3.3)
  • Skin(2.3)
  • Kidney(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with USP4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP4 Gene

Orthologs for USP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP4 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP4 29 30
  • 91.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP4 29 30
  • 89.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Usp4 29 16 30
  • 87.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp4 29
  • 87.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia USP4 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves USP4 29 30
  • 70.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP4 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp4 29
  • 68.55 (n)
Str.10806 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398480 29
Zebrafish
(Danio rerio)
Actinopterygii usp4 29 30
  • 67.34 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG30421 31
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea H34C03.2 29 30 31
  • 50.19 (n)
OneToMany
F07A11.4 31
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP12 30
  • 21 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons UBP5 29
  • 47.21 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2770 30
  • 42 (a)
OneToMany
Species where no ortholog for USP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for USP4 Gene

ENSEMBL:
Gene Tree for USP4 (if available)
TreeFam:
Gene Tree for USP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP4: view image
Alliance of Genome Resources:
Additional Orthologs for USP4

Paralogs for USP4 Gene

(5) SIMAP similar genes for USP4 Gene using alignment to 5 proteins:

  • UBP4_HUMAN
  • C9JNU9_HUMAN
  • H7C189_HUMAN
  • L8EBI0_HUMAN
  • Q08AK7_HUMAN

Pseudogenes.org Pseudogenes for USP4 Gene

genes like me logo Genes that share paralogs with USP4: view

Variants for USP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP4 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs139828327 Likely Benign: not provided 49,284,004(-) G/A
NM_003363.4(USP4):c.2523C>T (p.Val841=)
SYNONYMOUS
rs140546798 Likely Benign: not provided 49,294,517(-) T/A
NM_003363.4(USP4):c.1773A>T (p.Pro591=)
SYNONYMOUS
rs149131437 Likely Benign: not provided 49,292,593(-) T/C
NM_003363.4(USP4):c.1889A>G (p.Tyr630Cys)
MISSENSE
rs1575598495 Likely Benign: not provided 49,280,823(-) G/A
NM_003363.4(USP4):c.2565C>T (p.Val855=)
SYNONYMOUS
rs375989870 Likely Benign: not provided 49,327,695(-) G/A
NM_003363.4(USP4):c.351C>T (p.Ile117=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP4 Gene

Variant ID Type Subtype PubMed ID
esv3596124 CNV loss 21293372
nsv1008750 CNV gain 25217958
nsv507094 OTHER sequence alteration 20534489
nsv512800 CNV insertion 21212237

Variation tolerance for USP4 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP4
Leiden Open Variation Database (LOVD)
USP4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP4 Gene

Disorders for USP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for USP4 Gene - From: GCD

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • opmd
- elite association - COSMIC cancer census association via MalaCards
Search USP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with USP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP4 Gene

Publications for USP4 Gene

  1. The human UNP locus at 3p21.31 encodes two tissue-selective, cytoplasmic isoforms with deubiquitinating activity that have reduced expression in small cell lung carcinoma cell lines. (PMID: 9464533) Frederick A … Chiu MI (Oncogene 1998) 2 3 4
  2. Elevated expression of Unph, a proto-oncogene at 3p21.3, in human lung tumors. (PMID: 7784062) Gray DA … Takahashi T (Oncogene 1995) 3 4 22
  3. The DUSP-Ubl domain of USP4 enhances its catalytic efficiency by promoting ubiquitin exchange. (PMID: 25404403) Clerici M … Sixma TK (Nature communications 2014) 3 4
  4. Ubiquitin-specific protease 4 inhibits mono-ubiquitination of the master growth factor signaling kinase PDK1. (PMID: 22347420) Uras IZ … Nijman SM (PloS one 2012) 3 4
  5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 40

Products for USP4 Gene

Sources for USP4 Gene