• Gene id: 51287

Gene Summary

• Gene Symbol: COA4   Gene   UCSC   Ensembl
• Aliases: CHCHD8, CMC3, E2IG2
• Gene name: cytochrome c oxidase assembly factor 4 homolog
• Alternate names: cytochrome c oxidase assembly factor 4 homolog, mitochondrial, E2-induced gene 2 protein, coiled-coil-helix-coiled-coil-helix domain containing 8, coiled-coil-helix-coiled-coil-helix domain-containing protein 8,
• Gene location: 11q13.4 (73876900: 73870257)     Exons: 5     NC_000011.10
• OMIM: 608016

Protein Summary

• Protein general information: Q9NYJ1  
  • Name: Cytochrome c oxidase assembly factor 4 homolog, mitochondrial (Coiled coil helix coiled coil helix domain containing protein 8) (E2 induced gene 2 protein)
  • Length: 87  
  • Mass: 10134
• Sequence:

  MSTSVPQGHTWTQRVKKDDEEEDPLDQLISRSGCAASHFAVQECMAQHQDWRQCQPQVQAFKDCMSEQQARRQEE
  LQRRQEQAGAHH

• Structural information:
  • Protein Domains: (31..7-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR039870  
  • Prosite: PS51808
  • STRING: ENSP00000347919
• Other Databases: GeneCards:  COA4  Malacards:  COA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005758	mitochondrial intermembrane space	IBA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0033617	mitochondrial cytochrome c oxidase assembly	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881