Aliases for UBE2O Gene
Aliases for UBE2O Gene
External Ids for UBE2O Gene
- HGNC: 29554
- Entrez Gene: 63893
- Ensembl: ENSG00000175931
- OMIM: 617649
- UniProtKB: 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. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is BIRC6.
UniProtKB/Swiss-Prot 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).
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2O Gene
Genomics for UBE2O Gene
GeneHancer (GH) Regulatory Elements for UBE2O Gene
Promoters and enhancers for UBE2O Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around UBE2O on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for UBE2O Gene
Genomic Locations for UBE2O Gene
- chr17:76,389,451-76,453,206
- (GRCh38/hg38)
- Size:
- 63,756 bases
- Orientation:
- Minus strand
- chr17:74,385,532-74,449,288
- (GRCh37/hg19)
Genomic View for UBE2O Gene
Genes around UBE2O on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by Ensembl
- 17q25.1 by Entrez Gene
- 17q25.1 by HGNC
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; Evidence={ECO:0000305}; Sequence=AAH25977.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH36820.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH51868.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14320.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14948.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15313.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21825.1; Type=Erroneous initiation; 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 isoforms=132, isoforms=212, isoforms=283, posLast=373373, posLast=521521, posLast=620620, posLast=815815, posLast=819819, isoforms=825, isoforms=866, and posLast=990990
Other Protein References for UBE2O Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for UBE2O (UBE2O)
-
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-
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-
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-
Quality Products:
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-
Abcam proteins for UBE2O
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for UBE2O Gene
- GenScript: Design optimal peptide antigens:
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 CatalyticActivity:
- 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.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- inhibited by phenylarsine oxide (PAO).
- 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).
Enzyme Numbers (IUBMB) for UBE2O Gene
Phenotypes From GWAS Catalog for UBE2O Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA,IDA | 22681889 |
| GO:0004842 | ubiquitin-protein transferase activity | IDA | 23455153 |
| GO:0005515 | protein binding | IPI | 23455153 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
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 tm1.1(KOMP)Mbp
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miRNA for UBE2O Gene
- miRTarBase miRNAs that target UBE2O
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Inhibitory RNA Products
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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 |
- Nuclear bodies (3)
- Nucleus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 24703950 |
| 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:
ENSP00000323687
Q9C0C9-UBE2O_HUMAN
for UBE2O Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006513 | protein monoubiquitination | IDA | 23455153 |
| GO:0006810 | transport | 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
- (4) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (233) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for UBE2O Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for UBE2O
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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, PaxDb, MaxQB, and MOPED for UBE2O Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of UBE2O Gene:
UBE2OSOURCE 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)
- Liver(4.2)
- Skin(4.2)
- Blood(2.5)
Primer Products
-
OriGene qPCR primer pairs for UBE2O
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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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | UBE2O 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | UBE2O 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ube2o 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ube2o 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | UBE2O 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | UBE2O 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | UBE2O 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | UBE2O 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ube2o 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | UBE2O 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG10254 34 |
|
OneToOne | |
| barley (Hordeum vulgare) |
Liliopsida | Hv.2300 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.2040 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for UBE2O was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for UBE2O Gene
(5) SIMAP similar genes for UBE2O Gene using alignment to 3 proteins:
Variants for UBE2O Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000048822 | -- | 76,400,869(-) | C/T | intron_variant | |
| rs1000086364 | -- | 76,444,400(-) | A/T | intron_variant | |
| rs1000119220 | -- | 76,423,373(-) | C/G | intron_variant | |
| rs1000166377 | -- | 76,422,330(-) | C/T | intron_variant | |
| rs1000171761 | -- | 76,428,325(-) | T/C | intron_variant |
| 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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2O Gene
Disorders for UBE2O Gene
Additional Disease Information for UBE2O
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for UBE2O Gene.
No data available for MalaCards , 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 58
- 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 58
- 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 58
- UBE2O negatively regulates TRAF6-mediated NF-κB activation by inhibiting TRAF6 polyubiquitination. (PMID: 23381138) Zhang X … ten Dijke P (Cell research 2013) 3 4 58
- Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PMID: 23452853) Hao YH … Potts PR (Cell 2013) 3 4 58
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- genomics-online: gRNA clones - Search results for 70 available UBE2O gene related products
- Overview of 70 available UBE2O gene related products
- genomics-online: primer clones - Search results for 70 available UBE2O gene related products
- Overview of 70 available UBE2O gene related products
- genomics-online: shRNA clones - Search results for 70 available UBE2O gene related products
- Overview of 70 available UBE2O gene related products
Sources for UBE2O Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew