• Gene id: 63893

Gene Summary

• Gene Symbol: UBE2O   Gene   UCSC   Ensembl
• Aliases: E2-230K
• Gene name: ubiquitin conjugating enzyme E2 O
• Alternate names: (E3-independent) E2 ubiquitin-conjugating enzyme, E2/E3 hybrid ubiquitin-protein ligase UBE2O, ubiquitin carrier protein O, ubiquitin conjugating enzyme E2O, ubiquitin-conjugating enzyme E2 of 230 kDa, ubiquitin-conjugating enzyme E2-230K, ubiquitin-protein lig,
• Gene location: 17q25.1 (76453233: 76389455)     Exons: 19     NC_000017.11
• OMIM: 612107

Protein Summary

• Protein general information: Q9C0C9  
  • Name: (E3 independent) E2 ubiquitin conjugating enzyme (EC 2.3.2.24) (E2/E3 hybrid ubiquitin protein ligase UBE2O) (Ubiquitin carrier protein O) (Ubiquitin conjugating enzyme E2 O) (Ubiquitin conjugating enzyme E2 of 230 kDa) (Ubiquitin conjugating enzyme E2 23
  • Length: 1292  
  • Mass: 141293
  • Tissue specificity: Predominantly expressed in skeletal muscle and heart. {ECO
• Sequence:

  MADPAAPTPAAPAPAQAPAPAPEAVPAPAAAPVPAPAPASDSASGPSSDSGPEAGSQRLLFSHDLVSGRYRGSVH
  FGLVRLIHGEDSDSEGEEEGRGSSGCSEAGGAGHEEGRASPLRRGYVRVQWYPEGVKQHVKETKLKLEDRSVVPR
  DVVRHMRSTDSQCGTVIDVNIDCAVKLIGTNCIIYPVNSKDLQHIWPFMYGDYIAYDCWLGKVYDLKNQIILKLS
  NGARCSMNTEDGAKLYDVCPHVSDSGLFFDDSYGFYPGQVLIGPAKIFSSVQWLSGVKPVLSTKSKFRVVVEEVQ
  VVELKVTWITKSFCPGGTDSVSPPPSVITQENLGRVKRLGCFDHAQRQLGERCLYVFPAKVEPAKIAWECPEKNC
  AQGEGSMAKKVKRLLKKQVVRIMSCSPDTQCSRDHSMEDPDKKGESKTKSEAESASPEETPDGSASPVEMQDEGA
  EEPHEAGEQLPPFLLKEGRDDRLHSAEQDADDEAADDTDDTSSVTSSASSTTSSQSGSGTSRKKSIPLSIKNLKR
  KHKRKKNKITRDFKPGDRVAVEVVTTMTSADVMWQDGSVECNIRSNDLFPVHHLDNNEFCPGDFVVDKRVQSCPD
  PAVYGVVQSGDHIGRTCMVKWFKLRPSGDDVELIGEEEDVSVYDIADHPDFRFRTTDIVIRIGNTEDGAPHKEDE
  PSVGQVARVDVSSKVEVVWADNSKTIILPQHLYNIESEIEESDYDSVEGSTSGASSDEWEDDSDSWETDNGLVED
  EHPKIEEPPIPPLEQPVAPEDKGVVISEEAATAAVQGAVAMAAPMAGLMEKAGKDGPPKSFRELKEAIKILESLK
  NMTVEQLLTGSPTSPTVEPEKPTREKKFLDDIKKLQENLKKTLDNVAIVEEEKMEAVPDVERKEDKPEGQSPVKA
  EWPSETPVLCQQCGGKPGVTFTSAKGEVFSVLEFAPSNHSFKKIEFQPPEAKKFFSTVRKEMALLATSLPEGIMV
  KTFEDRMDLFSALIKGPTRTPYEDGLYLFDIQLPNIYPAVPPHFCYLSQCSGRLNPNLYDNGKVCVSLLGTWIGK
  GTERWTSKSSLLQVLISIQGLILVNEPYYNEAGFDSDRGLQEGYENSRCYNEMALIRVVQSMTQLVRRPPEVFEQ
  EIRQHFSTGGWRLVNRIESWLETHALLEKAQALPNGVPKASSSPEPPAVAELSDSGQQEPEDGGPAPGEASQGSD
  SEGGAQGLASASRDHTDQTSETAPDASVPPSVKPKKRRKSYRSFLPEKSGYPDIGFPLFPLSKGFIKSIRGVLTQ
  FRAALLEAGMPECTEDK

• Structural information:
  • Interpro: IPR000608  IPR016135  
  • Prosite: PS50127
  • CDD: cd00195
  • STRING: ENSP00000323687
• Other Databases: GeneCards:  UBE2O  Malacards:  UBE2O

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0004869	cysteine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0061631	ubiquitin conjugating enzyme activity	IBA	molecular function
GO:0030513	positive regulation of BMP signaling pathway	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0070534	protein K63-linked ubiquitination	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061631	ubiquitin conjugating enzyme activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray