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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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Ubiquitin mediated proteolysis | ||
3 | Innate Immune System |
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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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
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: |
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 |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pontocerebellar hypoplasia, type 2a |
|
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