• Gene id: 7336

Gene Summary

• Gene Symbol: UBE2V2   Gene   UCSC   Ensembl
• Aliases: DDVIT1, DDVit-1, EDAF-1, EDPF-1, EDPF1, MMS2, UEV-2, UEV2
• Gene name: ubiquitin conjugating enzyme E2 V2
• Alternate names: ubiquitin-conjugating enzyme E2 variant 2, 1 alpha,25-dihydroxyvitamin D3-inducible, DDVit 1, MMS2 homolog, enterocyte differentiation promoting factor, enterocyte differentiation-associated factor 1, enterocyte differentiation-associated factor EDAF-1, enterocy,
• Gene location: 8q11.21 (47997526: 48064707)     Exons: 6     NC_000008.11
• Gene summary(Entrez): Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic
• OMIM: 603001

Protein Summary

• Protein general information: Q15819  
  • Name: Ubiquitin conjugating enzyme E2 variant 2 (DDVit 1) (Enterocyte differentiation associated factor 1) (EDAF 1) (Enterocyte differentiation promoting factor 1) (EDPF 1) (MMS2 homolog) (Vitamin D3 inducible protein)
  • Length: 145  
  • Mass: 16363
  • Tissue specificity: Detected in placenta, colon, liver and skin. Detected at very low levels in most tissues. {ECO
• Sequence:

  MAVSTGVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTNYENRIYSLKVECGPKYPE
  APPSVRFVTKINMNGINNSSGMVDARSIPVLAKWQNSYSIKVVLQELRRLMMSKENMKLPQPPEGQTYNN

• Structural information:
  • Interpro: IPR000608  IPR016135  
  • Prosite: PS50127
  • PDB: 1J74 1J7D 1ZGU 3VON 4NR3 4NRG 4NRI 4ONL 4ONM 4ONN 4ORH 5AIT
  • PDBsum: 1J74 1J7D 1ZGU 3VON 4NR3 4NRG 4NRI 4ONL 4ONM 4ONN 4ORH 5AIT
  • DIP: 29830
  • STRING: ENSP00000428209
• Other Databases: GeneCards:  UBE2V2  Malacards:  UBE2V2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0031372	UBC13-MMS2 complex	IDA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0000729	DNA double-strand break processing	IMP	biological process
GO:0061631	ubiquitin conjugating enzyme activity	IBA	molecular function
GO:0006301	postreplication repair	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0070534	protein K63-linked ubiquitination	IBA	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0006282	regulation of DNA repair	TAS	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	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:0042275	error-free postreplication DNA repair	IEA	biological process
GO:0061631	ubiquitin conjugating enzyme activity	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881