• Gene id: 169714

Gene Summary

• Gene Symbol: QSOX2   Gene   UCSC   Ensembl
• Aliases: QSCN6L1, SOXN
• Gene name: quiescin sulfhydryl oxidase 2
• Alternate names: sulfhydryl oxidase 2, neuroblastoma-derived sulfhydryl oxidase, quiescin Q6 sulfhydryl oxidase 2, quiescin Q6-like 1, quiescin Q6-like protein 1, thiol oxidase 2,
• Gene location: 9q34.3 (136245811: 136206332)     Exons: 12     NC_000009.12
• Gene summary(Entrez): QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, J
• OMIM: 612860

Protein Summary

• Protein general information: Q6ZRP7  
  • Name: Sulfhydryl oxidase 2 (EC 1.8.3.2) (Neuroblastoma derived sulfhydryl oxidase) (Quiescin Q6 like protein 1)
  • Length: 698  
  • Mass: 77529
  • Tissue specificity: Expressed in pancreas, brain, placenta, kidney, heart and fetal tissues. Weakly expressed in lung, liver and skeletal muscles. {ECO
• Sequence:

  MAAAGAAVARSPGIGAGPALRARRSPPPRAARLPRLLVLLAAAAVGPGAGGAARLYRAGEDAVWVLDSGSVRGAT
  ANSSAAWLVQFYSSWCGHCIGYAPTWRALAGDVRDWASAIRVAALDCMEEKNQAVCHDYDIHFYPTFRYFKAFTK
  EFTTGENFKGPDRELRTVRQTMIDFLQNHTEGSRPPACPRLDPIQPSDVLSLLDNRGSHYVAIVFESNSSYLGRE
  VILDLIPYESIVVTRALDGDKAFLEKLGVSSVPSCYLIYPNGSHGLINVVKPLRAFFSSYLKSLPDVRKKSLPLP
  EKPHKEENSEIVVWREFDKSKLYTVDLESGLHYLLRVELAAHKSLAGAELKTLKDFVTVLAKLFPGRPPVKKLLE
  MLQEWLASLPLDRIPYNAVLDLVNNKMRISGIFLTNHIKWVGCQGSRSELRGYPCSLWKLFHTLTVEASTHPDAL
  VGTGFEDDPQAVLQTMRRYVHTFFGCKECGEHFEEMAKESMDSVKTPDQAILWLWKKHNMVNGRLAGHLSEDPRF
  PKLQWPTPDLCPACHEEIKGLASWDEGHVLTFLKQHYGRDNLLDTYSADQGDSSEGGTLARGEEEEKRLTPPEVS
  HGDRDTQSVRPPGALGPRPALPESLHHSLDGKLQSLDGPGAHKEVGGAAPFLGVDFSSLDMSLCVVLYVASSLFL
  MVMYFFFRVRSRRWKVKHHHPAV

• Structural information:
  • Protein Domains: (34..17-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (421..53-)
    oxidase (/note="ERV/ALR-sulfhydryl)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00654"-)
  • Interpro: IPR036774  IPR017905  IPR040986  IPR042568  IPR041269   IPR039798  IPR036249  IPR013766  
  • Prosite: PS51324 PS51352
  • STRING: ENSP00000351536
• Other Databases: GeneCards:  QSOX2  Malacards:  QSOX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0003756	protein disulfide isomerase activity	IBA	molecular function
GO:0016971	flavin-linked sulfhydryl oxidase activity	IBA	molecular function
GO:0016972	thiol oxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016971	flavin-linked sulfhydryl oxidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016972	thiol oxidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
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