• Gene id: 116228

Gene Summary

• Gene Symbol: COX20   Gene   UCSC   Ensembl
• Aliases: FAM36A
• Gene name: cytochrome c oxidase assembly factor COX20
• Alternate names: cytochrome c oxidase assembly protein COX20, mitochondrial, COX20 Cox2 chaperone homolog, COX20, cytochrome c oxidase assembly factor, cytochrome c oxidase protein 20 homolog, family with sequence similarity 36, member A,
• Gene location: 1q44 (244835305: 244845062)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause m
• OMIM: 614698

Protein Summary

• Protein general information: Q5RI15  
  • Name: Cytochrome c oxidase assembly protein COX20, mitochondrial
  • Length: 118  
  • Mass: 13291
• Sequence:

  MAAPPEPGEPEERKSLKLLGFLDVENTPCARHSILYGSLGSVVAGFGHFLFTSRIRRSCDVGVGGFILVTLGCWF
  HCRYNYAKQRIQERIAREEIKKKILYEGTHLDPERKHNGSSSN

• Structural information:
  • Interpro: IPR022533  
  • STRING: ENSP00000406327
• Other Databases: GeneCards:  COX20  Malacards:  COX20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	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: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: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: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: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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Cytochrome c oxidase	KEGG:H01368
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)