• Gene id: 286053

Gene Summary

• Gene Symbol: NSMCE2   Gene   UCSC   Ensembl
• Aliases: C8orf36, MMS21, NSE2, ZMIZ7
• Gene name: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
• Alternate names: E3 SUMO-protein ligase NSE2, E3 SUMO-protein transferase NSE2, NSMCE2/PVT1 fusion, PVT1/NSMCE2 fusion, methyl methanesulfonate sensitivity gene 21, non-SMC element 2, MMS21 homolog, non-structural maintenance of chromosomes element 2 homolog, zinc finger, MIZ-ty,
• Gene location: 8q24.13 (125091778: 125367124)     Exons: 15     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protei
• OMIM: 617246

Protein Summary

• Protein general information: Q96MF7  
  • Name: E3 SUMO protein ligase NSE2 (EC 2.3.2. ) (E3 SUMO protein transferase NSE2) (MMS21 homolog) (hMMS21) (Non structural maintenance of chromosomes element 2 homolog) (Non SMC element 2 homolog)
  • Length: 247  
  • Mass: 27932
• Sequence:

  MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYSMDKAMVEFATLDRQL
  NHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADFQNNEKFVQFKQQLKELKKQCGLQADREADG
  TEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDL
  IQDEALRRAIENHNKKRHRHSE

• Structural information:
  • Interpro: IPR026846  IPR004181  IPR013083  
  • Prosite: PS51044
  • CDD: cd16651
  • PDB: 2YU4
  • PDBsum: 2YU4
  • STRING: ENSP00000287437
• Other Databases: GeneCards:  NSMCE2  Malacards:  NSMCE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0019789	SUMO transferase activity	IDA	molecular function
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0045842	positive regulation of mitotic metaphase/anaphase transition	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	NOT|biological process
GO:0090398	cellular senescence	IMP	biological process
GO:0034184	positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000722	telomere maintenance via recombination	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0019789	SUMO transferase activity	IEA	molecular function
GO:0030915	Smc5-Smc6 complex	IEA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
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:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process

Diseases

Associated diseases	References
Seckel syndrome	KEGG:H00992
Seckel syndrome	KEGG:H00992
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq