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Aliases for UBE2O Gene
Aliases for UBE2O Gene
External Ids for UBE2O Gene
- HGNC: 29554
- NCBI Entrez Gene: 63893
- Ensembl: ENSG00000175931
- OMIM®: 617649
- UniProtKB/Swiss-Prot: Q9C0C9
Previous GeneCards Identifiers for UBE2O Gene
- GC17M071898
- GC17M074385
- GC17M069814
Summaries for UBE2O Gene
GeneCards Summary for UBE2O Gene
UBE2O (Ubiquitin Conjugating Enzyme E2 O) is a Protein Coding gene. Diseases associated with UBE2O include Pontocerebellar Hypoplasia, Type 2A. Among its related pathways are Ubiquitin mediated proteolysis and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is UBE2Z.
UniProtKB/Swiss-Prot Summary for UBE2O Gene
-
E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins (PubMed:23455153, PubMed:24703950). Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity (PubMed:23381138). Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis (PubMed:23455153). Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chromatin-associated proteins, such as INO80 and CXXC1, affecting their subcellular location (PubMed:24703950). Acts as a regulator of retrograde transport by assisting the TRIM27:MAGEL2 E3 ubiquitin ligase complex to mediate 'Lys-63'-linked ubiquitination of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853).
Additional gene information for UBE2O Gene
- HGNC (29554)
- NCBI Entrez Gene (63893)
- Ensembl (ENSG00000175931)
- OMIM® (617649)
- UniProtKB/Swiss-Prot (Q9C0C9)
- Open Targets Platform(ENSG00000175931)
- Search for UBE2O at DataMed
- Search for UBE2O at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2O Gene
Genomics for UBE2O Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for UBE2O 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 UBE2O on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2O
- Top Transcription factor binding sites by QIAGEN in the UBE2O gene promoter:
-
- AREB6
- CREB
- deltaCREB
- MIF-1
- MZF-1
- Nkx6-1
- Pax-4a
- Pax-5
- TBP
Genomic Locations for UBE2O Gene
Latest Assembly
- chr17:76,389,456-76,453,234
- (GRCh38/hg38)
- Size:
- 63,779 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:74,385,537-74,449,234
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 63,698 bases
- Orientation:
- Minus strand
- chr17:74,385,532-74,449,288
- (GRCh37/hg19 by Ensembl)
- Size:
- 63,757 bases
- Orientation:
- Minus strand
Genomic View for UBE2O Gene
Genes around UBE2O on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
UBE2O Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for UBE2O Gene
Proteins for UBE2O Gene
-
Protein details for UBE2O Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9C0C9-UBE2O_HUMAN
- Recommended name:
- (E3-independent) E2 ubiquitin-conjugating enzyme
- Protein Accession:
- Q9C0C9
- A6NDU5
- Q69YP4
- Q6PIZ2
- Q86UA4
- Q8N425
- Q8TBN1
- Q9BSW1
- Q9H6E6
- Q9H7E4
- Q9H9B2
Protein attributes for UBE2O Gene
- Size:
- 1292 amino acids
- Molecular mass:
- 141293 Da
- Quaternary structure:
-
- Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain).
- SequenceCaution:
-
- Sequence=AAH22237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH25977.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH36820.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH51868.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14320.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14948.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15313.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB21825.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for UBE2O Gene
Post-translational modifications for UBE2O Gene
- Phosphorylated. Phosphorylation affects subcellular location.
- Ubiquitinated: autoubiquitinates, possibly affecting its subcellular location.
-
Ubiquitination at Lys132, Lys212, Lys283, Lys373, Lys521, Lys620, Lys815, Lys819, Lys825, Lys866, and Lys990
- NX_Q9C0C9 (NX_Q9C0C9-1)
- Modification sites at PhosphoSitePlus
Other Protein References for UBE2O Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences UBE2O Antibody
-
Custom Antibody ServicesOriGene Antibodies for UBE2O
- Novus Biologicals Antibodies for UBE2O
- Invitrogen Antibodies for UBE2O (AFLGC-UBE2O)
-
Biorbyt antibodies for UBE2O
-
Custom Antibody ServicesProSci Antibodies for UBE2O
-
Santa Cruz Biotechnology (SCBT) Antibodies for UBE2O
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for UBE2O
- Origene Custom Protein Services for UBE2O
- antibodies-online: Show 7 available UBE2O Proteins ranked by validation data
- Compare Top UBE2O Proteins
-
Quality Products:
-
Abcam proteins for UBE2O
Assay products for research
No data available for DME Specific Peptides for UBE2O Gene
Domains & Families for UBE2O Gene
Gene Families for UBE2O Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for UBE2O Gene
- InterPro:
- Blocks:
-
- Ubiquitin-conjugating enzymes
- ProtoNet:
Suggested Antigen Peptide Sequences for UBE2O Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitin-protein ligase O (UBE2O_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9C0C9- Family:
-
- Belongs to the ubiquitin-conjugating enzyme family.
Function for UBE2O Gene
Molecular function for UBE2O Gene
- UniProtKB/Swiss-Prot Function:
- E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins (PubMed:23455153, PubMed:24703950). Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity (PubMed:23381138). Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis (PubMed:23455153). Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chromatin-associated proteins, such as INO80 and CXXC1, affecting their subcellular location (PubMed:24703950). Acts as a regulator of retrograde transport by assisting the TRIM27:MAGEL2 E3 ubiquitin ligase complex to mediate 'Lys-63'-linked ubiquitination of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.24; Evidence={ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000269|PubMed:23455153, ECO:0000269|PubMed:24703950};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- inhibited by phenylarsine oxide (PAO).
Enzyme Numbers (IUBMB) for UBE2O Gene
Phenotypes From GWAS Catalog for UBE2O Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0004842 | ubiquitin-protein transferase activity | IDA | 23455153 |
| GO:0004869 | cysteine-type endopeptidase inhibitor activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 23455153 |
Phenotypes for UBE2O Gene
- MGI mutant phenotypes for UBE2O:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for UBE2O:
Animal Models for UBE2O Gene
- MGI Knock Outs for UBE2O:
-
- Ube2o Ube2o<tm1.1(KOMP)Mbp>
Animal Models for research
-
Taconic Biosciences Mouse Models for UBE2O
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UBE2O - Starting at $85 >
- * UBE2O CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UBE2O
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBE2O
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBE2O
miRNA for UBE2O Gene
- miRTarBase miRNAs that target UBE2O
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UBE2O
- Browse OriGene Inhibitory RNA Products For UBE2O
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2O
Clone products for research
- Applied Biological Materials (abm): Clones for UBE2O - Starting at $45 >
- * UBE2O as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for UBE2O
- Addgene plasmids for UBE2O
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBE2O
Cell Lines for research
-
Horizon Cell Lines for UBE2O
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE2O Gene
Localization for UBE2O Gene
Subcellular locations from UniProtKB/Swiss-Prot for UBE2O Gene
- Cytoplasm. Nucleus. Note=Mainly localizes to the cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,IDA | 24703950 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA | 24703950 |
| GO:0005829 | cytosol | IEA | -- |
| GO:0016604 | nuclear body | IDA | -- |
Pathways & Interactions for UBE2O Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Ubiquitin mediated proteolysis | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for UBE2O Gene
4 Reactome pathways for UBE2O Gene
1 KEGG pathway for UBE2O Gene
UniProtKB/Swiss-Prot Q9C0C9-UBE2O_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for UBE2O Gene
Selected Interacting proteins:
Q9C0C9-UBE2O_HUMAN
ENSP00000323687
for UBE2O Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for UBE2O
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006513 | protein monoubiquitination | IDA | 23455153 |
| GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0030513 | positive regulation of BMP signaling pathway | IDA | 23455153 |
| GO:0042147 | retrograde transport, endosome to Golgi | IMP | 23452853 |
Drugs & Compounds for UBE2O Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for UBE2O Gene
mRNA/cDNA for UBE2O Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000319380 5377 nts (view in UCSC)
- ENST00000586409 3579 nts (view in UCSC)
- ENST00000586505 522 nts (view in UCSC)
- ENST00000587127 3569 nts (view in UCSC)
- ENST00000587581 545 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UBE2O - Starting at $85 >
- * UBE2O CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UBE2O
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBE2O
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBE2O
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UBE2O
- Browse OriGene Inhibitory RNA Products For UBE2O
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2O
Clone products for research
- Applied Biological Materials (abm): Clones for UBE2O - Starting at $45 >
- * UBE2O as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for UBE2O
- Addgene plasmids for UBE2O
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBE2O
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: |
Relevant External Links for UBE2O Gene
- GeneLoc Exon Structure for
- UBE2O
Expression for UBE2O Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Erythroblasts Hematopoietic Bone Marrow
- Eye (Sensory Organs)
This gene is overexpressed in Peripheral blood mononuclear cells (15.8) and Heart (12.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE2O Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2O
SOURCE GeneReport for Unigene cluster for UBE2O Gene:
Hs.16130mRNA Expression by UniProt/SwissProt for UBE2O Gene:
Q9C0C9-UBE2O_HUMAN
Tissue specificity:
Predominantly expressed in skeletal muscle and heart.
Evidence on tissue expression from TISSUES for UBE2O Gene
- Nervous system(4.8)
- Skin(4.4)
- Liver(4.3)
- Blood(2.8)
- Heart(2)
Primer products for research
-
OriGene qPCR primer pairs for UBE2O
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2O Gene
Orthologs for UBE2O Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | UBE2O 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | UBE2O 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | UBE2O 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ube2o 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ube2o 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | UBE2O 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | UBE2O 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | UBE2O 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | UBE2O 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ube2o 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | UBE2O 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10254 31 |
|
OneToOne | |
| Barley (Hordeum vulgare) |
Liliopsida | Hv.2300 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.2040 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for UBE2O was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- 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)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for UBE2O Gene
- ENSEMBL:
- Gene Tree for UBE2O (if available)
- TreeFam:
- Gene Tree for UBE2O (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for UBE2O: view image
Paralogs for UBE2O Gene
Paralogs for UBE2O Gene
(5) SIMAP similar genes for UBE2O Gene using alignment to 3 proteins:
- UBE2O_HUMAN
- K7EQ12_HUMAN
- K7ES11_HUMAN
Variants for UBE2O Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2O Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs145605062 | Benign: not provided | 76,396,585(-) |
G/A NM_022066.4(UBE2O):c.2352C>T (p.Ala784=) |
SYNONYMOUS | |
| rs3803739 | - |
p.Gly1207Ser |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3397284 | CNV | duplication | 20981092 |
| esv3399280 | CNV | duplication | 20981092 |
| esv3582913 | CNV | loss | 25503493 |
| esv3641287 | CNV | loss | 21293372 |
| esv3641288 | CNV | loss | 21293372 |
| esv3641289 | CNV | insertion | 21293372 |
| nsv1143862 | CNV | deletion | 24896259 |
| nsv2145 | CNV | deletion | 18451855 |
| nsv833547 | CNV | loss | 17160897 |
| nsv833549 | CNV | gain | 17160897 |
| nsv978463 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.80;
93.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for UBE2O Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- UBE2O
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2O Gene
Disorders for UBE2O Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 2a |
|
|
Search UBE2O in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for UBE2O
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2O Gene
Publications for UBE2O Gene
- Identification, tissue expression, and chromosomal position of a novel gene encoding human ubiquitin-conjugating enzyme E2-230k. (PMID: 11311559) Yokota T … Emi M (Gene 2001) 2 3 4
- Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2O. (PMID: 24703950) Mashtalir N … Affar el B (Molecular cell 2014) 3 4
- Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PMID: 23452853) Hao YH … Potts PR (Cell 2013) 3 4
- Fine-tuning BMP7 signalling in adipogenesis by UBE2O/E2-230K-mediated monoubiquitination of SMAD6. (PMID: 23455153) Zhang X … Ten Dijke P (The EMBO journal 2013) 3 4
ExternalLinks
Products for UBE2O Gene
- Custom Antibody ServicesOriGene Antibodies for UBE2O
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for UBE2O
- Origene Custom Protein Services for UBE2O
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UBE2O
- Browse OriGene Inhibitory RNA Products For UBE2O
- OriGene qPCR primer pairs for UBE2O
- OriGene CRISPR knockouts for UBE2O
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- Browse OriGene miRNA Products For UBE2O
- Sino Biological Human cDNA Clone for UBE2O
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- High-throughput Antibody Production Service
- Protein Production Service
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- Novus Biologicals Antibodies for UBE2O
- Novus Biologicals proteins and lysates for UBE2O
- Browse Antibodies
- Browse Peptides and Proteins
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- Browse ELISA Kits
- Abcam proteins for UBE2O
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for UBE2O
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for UBE2O (AFLGC-UBE2O)
- VectorBuilder Custom and pre-made DNA vectors for UBE2O (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for UBE2O (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for UBE2O (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for UBE2O CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UBE2O
- Addgene plasmids for UBE2O
- antibodies-online: Show 9 available UBE2O Antibodies ranked by validation data
- Compare Top UBE2O Antibodies
- antibodies-online: Search results for available UBE2O related products ranked by validation data
- antibodies-online: Show 7 available UBE2O Proteins ranked by validation data
- Compare Top UBE2O Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for UBE2O
- Search Santa Cruz Biotechnology (SCBT) for UBE2O siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for UBE2O
- Horizon Cell Lines for UBE2O
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UBE2O
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UBE2O
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UBE2O
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2O
- Biorbyt antibodies for UBE2O
Sources for UBE2O Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB