• Gene id: 84419

Gene Summary

• Gene Symbol: C15orf48   Gene   UCSC   Ensembl
• Aliases: COXFA4L3, FOAP-11, MIR147BHG, NMES1
• Gene name: chromosome 15 open reading frame 48
• Alternate names: normal mucosa of esophagus-specific gene 1 protein, MIR147B host, cytochrome c oxidase subunit FA4 like 3, normal mucosa of esophagus specific 1,
• Gene location: 15q21.1 (45430528: 45433448)     Exons: 4     NC_000015.10
• Gene summary(Entrez): This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small int
• OMIM: 608409

Protein Summary

• Protein general information: Q9C002  
  • Name: Normal mucosa of esophagus specific gene 1 protein (Protein FOAP 11)
  • Length: 83  
  • Mass: 9617
  • Tissue specificity: Expressed mainly in stomach, placenta, small intestine and colon, as well as in normal mucosa of esophagus. Down-regulated in esophageal squamous cell carcinoma.
• Sequence:

  MSFFQLLMKRKELIPLVVFMTVAAGGASSFAVYSLWKTDVILDRKKNPEPWETVDPTVPQKLITINQQWKPIEEL
  QNVQRVTK

• Structural information:
  • Interpro: IPR010530  
  • STRING: ENSP00000341610
• Other Databases: GeneCards:  C15orf48  Malacards:  C15orf48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004129	cytochrome-c oxidase activity	IBA	contributes to
GO:0005751	mitochondrial respiratory chain complex IV	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray