• Gene id: 163859

Gene Summary

• Gene Symbol: SDE2   Gene   UCSC   Ensembl
• Aliases: C1orf55, dJ671D7.1
• Gene name: SDE2 telomere maintenance homolog
• Alternate names: replication stress response regulator SDE2, UPF0667 protein C1orf55, protein SDE2 homolog,
• Gene location: 1q42.12 (225999342: 225982701)     Exons: 7     NC_000001.11
• OMIM: 0

Protein Summary

• Protein general information: Q6IQ49  
  • Name: Replication stress response regulator SDE2
  • Length: 451  
  • Mass: 49742
• Sequence:

  MAEAAALVWIRGPGFGCKAVRCASGRCTVRDFIHRHCQDQNVPVENFFVKCNGALINTSDTVQHGAVYSLEPRLC
  GGKGGFGSMLRALGAQIEKTTNREACRDLSGRRLRDVNHEKAMAEWVKQQAEREAEKEQKRLERLQRKLVEPKHC
  FTSPDYQQQCHEMAERLEDSVLKGMQAASSKMVSAEISENRKRQWPTKSQTDRGASAGKRRCFWLGMEGLETAEG
  SNSESSDDDSEEAPSTSGMGFHAPKIGSNGVEMAAKFPSGSQRARVVNTDHGSPEQLQIPVTDSGRHILEDSCAE
  LGESKEHMESRMVTETEETQEKKAESKEPIEEEPTGAGLNKDKETEERTDGERVAEVAPEERENVAVAKLQESQP
  GNAVIDKETIDLLAFTSVAELELLGLEKLKCELMALGLKCGGTLQERAARLFSVRGLAKEQIDPALFAKPLKGKK
  K

• Structural information:
  • Protein Domains: (396..43-)
    (/note="SAP-)
    (/evidence="ECO:0000305|PubMed:27906959"-)
  • Interpro: IPR024974  
  • PDB: 6QDV
  • PDBsum: 6QDV
  • STRING: ENSP00000272091
• Other Databases: GeneCards:  SDE2  Malacards:  SDE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0016485	protein processing	IDA	biological process
GO:0071156	regulation of cell cycle arrest	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0034644	cellular response to UV	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
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)