• Gene id: 387263

Gene Summary

• Gene Symbol: C6orf120   Gene   UCSC   Ensembl
• Gene name: chromosome 6 open reading frame 120
• Alternate names: UPF0669 protein C6orf120,
• Gene location: 6q27 (169702111: 169706359)     Exons: 1     NC_000006.12
• Gene summary(Entrez): This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript va
• OMIM: 616987

Protein Summary

• Protein general information: Q7Z4R8  
  • Name: UPF0669 protein C6orf120
  • Length: 191  
  • Mass: 20772
  • Tissue specificity: Mainly expressed in hepatocytes and some weak expression in germinal center cells of lymph nodes. {ECO
• Sequence:

  MAAPRGRAAPWTTALLLLLASQVLSPGSCADEEEVPEEWVLLHVVQGQIGAGNYSYLRLNHEGKIVLRMRSLKGD
  ADLYVSASSLHPSFDDYELQSATCGPDAVSIPAHFRRPVGIGVYGHPSHLESEFEMKVYYDGTVEQHPFGEAAYP
  ADGADAGQKHAGAPEDASQEEESVLWTILISILKLVLEILF

• Structural information:
  • Interpro: IPR031420  
  • STRING: ENSP00000346931
• Other Databases: GeneCards:  C6orf120  Malacards:  C6orf120

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005576	extracellular region	IEA	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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)