This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of th... See more...

Aliases for USP8 Gene

Aliases for USP8 Gene

  • Ubiquitin Specific Peptidase 8 2 3 5
  • UBPY 2 3 4
  • Ubiquitin-Specific-Processing Protease 8 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 8 3 4
  • Deubiquitinating Enzyme 8 3 4
  • Ubiquitin Isopeptidase Y 3 4
  • KIAA0055 2 4
  • HumORF8 2 3
  • SPG59 2 3
  • Ubiquitin Specific Protease 8 2
  • Ubiquitin Thiolesterase 8 3
  • Ubiquitin Thioesterase 8 4
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • PITA4 3
  • HUBPy 4
  • USP8 5

External Ids for USP8 Gene

Previous GeneCards Identifiers for USP8 Gene

  • GC15P046273
  • GC15P043762
  • GC15P048295
  • GC15P048432
  • GC15P048503
  • GC15P050716
  • GC15P027548

Summaries for USP8 Gene

Entrez Gene Summary for USP8 Gene

  • This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for USP8 Gene

USP8 (Ubiquitin Specific Peptidase 8) is a Protein Coding gene. Diseases associated with USP8 include Pituitary Adenoma 4, Acth-Secreting and Acth-Secreting Pituitary Adenoma. Among its related pathways are Signaling by GPCR and Signaling by ERBB2. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP19.

UniProtKB/Swiss-Prot Summary for USP8 Gene

  • Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-mediated APP cleavage and amyloid-beta formation (PubMed:27302062).

Gene Wiki entry for USP8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP8 Gene

Genomics for USP8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP8

Top Transcription factor binding sites by QIAGEN in the USP8 gene promoter:
  • AML1a
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • C/EBPbeta
  • CREB
  • Elk-1
  • FAC1
  • Lmo2
  • p300

Genomic Locations for USP8 Gene

Latest Assembly
chr15:50,424,359-50,514,421
(GRCh38/hg38)
Size:
90,063 bases
Orientation:
Plus strand

Previous Assembly
chr15:50,716,602-50,806,618
(GRCh37/hg19 by Entrez Gene)
Size:
90,017 bases
Orientation:
Plus strand

chr15:50,716,577-50,793,280
(GRCh37/hg19 by Ensembl)
Size:
76,704 bases
Orientation:
Plus strand

Genomic View for USP8 Gene

Genes around USP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP8 Gene

Proteins for USP8 Gene

  • Protein details for USP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40818-UBP8_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 8
    Protein Accession:
    P40818
    Secondary Accessions:
    • B4DKA8
    • Q2TB31
    • Q7Z3U2
    • Q86VA0
    • Q8IWI7

    Protein attributes for USP8 Gene

    Size:
    1118 amino acids
    Molecular mass:
    127523 Da
    Quaternary structure:
    • Forms a ternary complex with RNF128 and OTUB1. Interacts (via C-terminal UCH catalytic domain) with OTUB1 isoform 1. Interacts with STAM2 (via SH3 domain). Interacts with DNAJB3, EGFR, EPS15, RASGRF1, RNF41, YWHAE, YWHAG and YWHAZ (By similarity). Interacts with NBR1, RASGRF1, RNF41 and IST1. Associates with the ESCRT-0 complex and with microtubules (By similarity). Interacts with BIRC6/bruce and KIF23/MKLP1.
    • (Microbial infection) Interacts with Zika virus non-structural protein 1.
    SequenceCaution:
    • Sequence=AAH38801.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH51345.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USP8 Gene

    Alternative splice isoforms for USP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP8 Gene

Selected DME Specific Peptides for USP8 Gene

P40818:
  • NLGNTCYMN
  • FMYLSLPL
  • DGLHEDLN

Post-translational modifications for USP8 Gene

  • Phosphorylation of Ser-718 is essential for interaction with YWHAE and for cytosol localization. Undergoes dephosphorylation at Ser-718 in the M phase. Tyrosine-phosphorylated in its N-terminal half in an EGFR-dependent manner.
  • Ubiquitinated. Inactive form is mostly monoubiquitinated, but polyubiquitination happens too. Ubiquitination is increased in EGF-stimulated cells. Ubiquitination of active form is undetectable, suggesting a possibility that USP8 deubiquitinates itself, thereby regulating its own function (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for USP8 Gene

Gene Families for USP8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for USP8 Gene

InterPro:
Blocks:
  • Rhodanese-like
  • Ubiquitin thiolesterase, family 2
  • Small acid-soluble spore protein, alpha/beta type

Suggested Antigen Peptide Sequences for USP8 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (B4DKA8_HUMAN)
  • USP8 protein (Q05CD9_HUMAN)
  • USP8 protein (Q05DF5_HUMAN)
  • Ubiquitin-specific-processing protease 8 (UBP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40818

UniProtKB/Swiss-Prot:

UBP8_HUMAN :
  • The MIT domain is required for endosomal localization, CHMP1B-binding, maintenance of ESCRT-0 stability and EGFR degradation.
  • Belongs to the peptidase C19 family.
Domain:
  • The MIT domain is required for endosomal localization, CHMP1B-binding, maintenance of ESCRT-0 stability and EGFR degradation.
  • The rhodanese domain is sufficient for RNF41-binding.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP8: view

Function for USP8 Gene

Molecular function for USP8 Gene

UniProtKB/Swiss-Prot Function:
Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-mediated APP cleavage and amyloid-beta formation (PubMed:27302062).
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:9628861};.
UniProtKB/Swiss-Prot Induction:
Upon growth stimulation in starved human fibroblasts. Decreases in response to growth arrest induced by cell-cell contact.
GENATLAS Biochemistry:
ubiquitin specific protease 8,similar to the tre oncogene,with homology to ubiquitin carboxy-terminal hydrolase,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP8 Gene

Phenotypes From GWAS Catalog for USP8 Gene

Gene Ontology (GO) - Molecular Function for USP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS 9827704
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS --
GO:0005515 protein binding IPI 15161933
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP8: view
genes like me logo Genes that share phenotypes with USP8: view

Human Phenotype Ontology for USP8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for USP8 Gene

MGI Knock Outs for USP8:
  • Usp8 Usp8<tm1.2Kpk>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP8

No data available for Transcription Factor Targets and HOMER Transcription for USP8 Gene

Localization for USP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP8 Gene

Cytoplasm. Nucleus. Endosome membrane. Peripheral membrane protein. Cell membrane. Peripheral membrane protein.

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 USP8 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
nucleus 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
lysosome 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 18388320
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 16520378
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with USP8: view

Pathways & Interactions for USP8 Gene

genes like me logo Genes that share pathways with USP8: view

Pathways by source for USP8 Gene

1 Qiagen pathway for USP8 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for USP8 Gene

SIGNOR curated interactions for USP8 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for USP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 18388320
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007032 endosome organization IBA,IMP 16520378
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with USP8: view

Drugs & Compounds for USP8 Gene

(4) Drugs for USP8 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
DUBs-IN-2 Pharma deubiquitinase enzyme inhibitor 0
DUBs-IN-3 Pharma 0

(2) ApexBio Compounds for USP8 Gene

Compound Action Cas Number
DUBs-IN-2 deubiquitinase enzyme inhibitor 924296-19-5
DUBs-IN-3 924296-17-3
genes like me logo Genes that share compounds with USP8: view

Drug products for research

Transcripts for USP8 Gene

mRNA/cDNA for USP8 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
19 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 USP8

Alternative Splicing Database (ASD) splice patterns (SP) for USP8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5: - - - - -
SP6: -
SP7: - - -
SP8:
SP9:

ExUns: 21a · 21b ^ 22a · 22b · 22c
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for USP8 Gene

GeneLoc Exon Structure for
USP8

Expression for USP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP8 Gene

Protein differential expression in normal tissues from HIPED for USP8 Gene

This gene is overexpressed in Heart (34.7) and Fetal heart (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP8 Gene



Protein tissue co-expression partners for USP8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP8

SOURCE GeneReport for Unigene cluster for USP8 Gene:

Hs.443731

Evidence on tissue expression from TISSUES for USP8 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(4.4)
  • Bone marrow(4.3)
  • Kidney(2.4)
  • Adrenal gland(2.3)
  • Skin(2.2)
  • Heart(2.1)
  • Intestine(2.1)
  • Muscle(2.1)
  • Spleen(2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for USP8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with USP8: 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 mRNA Expression by UniProt/SwissProt for USP8 Gene

Orthologs for USP8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP8 29 30
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP8 29 30
  • 92.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP8 29 30
  • 92.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Usp8 29 16 30
  • 84.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp8 29
  • 84.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia USP8 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP8 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves USP8 29 30
  • 76.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP8 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp8 29
  • 66.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia usp8-prov 29
Zebrafish
(Danio rerio)
Actinopterygii usp8 29 30
  • 59.13 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13120 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ubpy 29 30
  • 46.67 (n)
OneToOne
CG5798 31
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002900 29
  • 44.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea E01B7.1 29 30
  • 42.84 (n)
ManyToMany
Y59A8B.2 31
  • 32 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP5 30
  • 22 (a)
ManyToMany
DOA4 30 32
  • 21 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToOne
Species where no ortholog for USP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for USP8 Gene

ENSEMBL:
Gene Tree for USP8 (if available)
TreeFam:
Gene Tree for USP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP8: view image
Alliance of Genome Resources:
Additional Orthologs for USP8

Paralogs for USP8 Gene

(7) SIMAP similar genes for USP8 Gene using alignment to 10 proteins:

  • UBP8_HUMAN
  • B4DKA8_HUMAN
  • H0YKV1_HUMAN
  • H0YLH2_HUMAN
  • H0YLS3_HUMAN
  • H0YM17_HUMAN
  • H0YM47_HUMAN
  • H0YNL5_HUMAN
  • Q05CD9_HUMAN
  • Q05DF5_HUMAN
genes like me logo Genes that share paralogs with USP8: view

Variants for USP8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP8 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1037976 Uncertain Significance: Hereditary spastic paraplegia 50,477,331(+) G/T
NM_005154.5(USP8):c.1050G>T (p.Gln350His)
MISSENSE
1044045 Uncertain Significance: Hereditary spastic paraplegia 50,499,023(+) T/G
NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala)
MISSENSE
862796 Uncertain Significance: Hereditary spastic paraplegia 50,477,410(+) A/G
NM_005154.5(USP8):c.1129A>G (p.Ile377Val)
MISSENSE
915336 Pathogenic: not provided 50,497,164(+) C/T
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)
NONSENSE
936853 Uncertain Significance: Hereditary spastic paraplegia 50,492,763(+) A/G
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP8 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 USP8 Gene

Variant ID Type Subtype PubMed ID
dgv2594n100 CNV gain 25217958
dgv317n27 CNV gain 19166990
dgv4525n54 CNV gain 21841781
esv1047910 CNV deletion 17803354
esv1049679 CNV deletion 17803354
esv2416237 CNV deletion 18987734
esv2677885 CNV deletion 23128226
esv2749681 CNV deletion 23290073
esv2749682 CNV deletion 23290073
esv2749683 CNV deletion 23290073
esv2749684 CNV deletion 23290073
esv3232679 CNV deletion 24192839
esv3552430 CNV deletion 23714750
esv3581700 CNV loss 25503493
esv3636442 CNV loss 21293372
esv994715 CNV deletion 20482838
nsv1047443 CNV gain 25217958
nsv1049576 CNV gain 25217958
nsv1108954 CNV deletion 24896259
nsv1134445 CNV deletion 24896259
nsv471242 CNV gain 18288195
nsv524613 CNV loss 19592680
nsv569398 CNV loss 21841781
nsv974576 CNV duplication 23825009

Variation tolerance for USP8 Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.59; 72.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP8 Gene

Human Gene Mutation Database (HGMD)
USP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP8
Leiden Open Variation Database (LOVD)
USP8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP8 Gene

Disorders for USP8 Gene

MalaCards: The human disease database

(20) MalaCards diseases for USP8 Gene - From: OMI, CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search USP8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBP8_HUMAN
  • Pituitary adenoma 4, ACTH-secreting (PITA4) [MIM:219090]: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269 PubMed:28505279}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for USP8

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 USP8: view

No data available for Genatlas for USP8 Gene

Publications for USP8 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 72
  2. Amino-terminal dimerization, NRDP1-rhodanese interaction, and inhibited catalytic domain conformation of the ubiquitin-specific protease 8 (USP8). (PMID: 17035239) Avvakumov GV … Dhe-Paganon S (The Journal of biological chemistry 2006) 3 4 22
  3. Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. (PMID: 28505279) Faucz FR … Stratakis CA (The Journal of clinical endocrinology and metabolism 2017) 3 4
  4. The Endosome-associated Deubiquitinating Enzyme USP8 Regulates BACE1 Enzyme Ubiquitination and Degradation. (PMID: 27302062) Yeates EF … Tesco G (The Journal of biological chemistry 2016) 3 4
  5. Recurrent gain-of-function USP8 mutations in Cushing's disease. (PMID: 25675982) Ma ZY … Zhao Y (Cell research 2015) 3 72

Products for USP8 Gene

Sources for USP8 Gene