• Gene id: 1347

Gene Summary

• Gene Symbol: COX7A2   Gene   UCSC   Ensembl
• Aliases: COX7AL, COX7AL1, COXVIIAL, COXVIIa-L, VIIAL
• Gene name: cytochrome c oxidase subunit 7A2
• Alternate names: cytochrome c oxidase subunit 7A2, mitochondrial, cytochrome c oxidase polypeptide 7A2, mitochondrial, cytochrome c oxidase polypeptide VIIa-liver/heart, cytochrome c oxidase subunit VIIa polypeptide 2 (liver), cytochrome c oxidase subunit VIIa-L, cytochrome c ,
• Gene location: 6q14.1 (75250297: 75237674)     Exons: 6     NC_000006.12
• Gene summary(Entrez): Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondri
• OMIM: 123996

Protein Summary

• Protein general information: P14406  
  • Name: Cytochrome c oxidase subunit 7A2, mitochondrial (Cytochrome c oxidase subunit VIIa liver/heart) (Cytochrome c oxidase subunit VIIa L) (Cytochrome c oxidase subunit VIIaL)
  • Length: 83  
  • Mass: 9396
• Sequence:

  MLRNLLALRQIGQRTISTASRRHFKNKVPEKQKLFQEDDEIPLYLKGGVADALLYRATMILTVGGTAYAIYELAV
  ASFPKKQE

• Structural information:
  • Interpro: IPR039297  IPR036539  IPR003177  
  • CDD: cd00928
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000359098
• Other Databases: GeneCards:  COX7A2  Malacards:  COX7A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005746	mitochondrial respirasome	IBA	cellular component
GO:0002082	regulation of oxidative phosphorylation	IBA	biological process
GO:0097250	mitochondrial respirasome assembly	IBA	biological process
GO:0005746	mitochondrial respirasome	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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