• Gene id: 9997

Gene Summary

• Gene Symbol: SCO2   Gene   UCSC   Ensembl
• Aliases: CEMCOX1, ECGF1, Gliostatin, MYP6, PD-ECGF, SCO1L, TP, TYMP, TdRPase
• Gene name: synthesis of cytochrome C oxidase 2
• Alternate names: protein SCO2 homolog, mitochondrial, Platelet-derived endothelial cell growth factor, SCO cytochrome c oxidase assembly protein 2, SCO cytochrome oxidase deficient homolog 2, SCO2, cytochrome c oxidase assembly protein, Thymidine phosphorylase,
• Gene location: 22q13.33 (50526438: 50523567)     Exons: 4     NC_000022.11
• Gene summary(Entrez): Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimer
• OMIM: 606450

Protein Summary

• Protein general information: O43819  
  • Name: Protein SCO2 homolog, mitochondrial
  • Length: 266  
  • Mass: 29810
  • Tissue specificity: Ubiquitous.
• Sequence:

  MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAW
  LALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQ
  LEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHS
  IAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS

• Structural information:
  • Protein Domains: (85..25-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR003782  IPR017276  IPR036249  IPR013766  
  • Prosite: PS51352
  • CDD: cd02968
  • PDB: 2RLI
  • PDBsum: 2RLI
  • DIP: 46088
  • STRING: ENSP00000444433
• Other Databases: GeneCards:  SCO2  Malacards:  SCO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033617	mitochondrial cytochrome c oxidase assembly	IBA	biological process
GO:0015035	protein disulfide oxidoreductase activity	IDA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IDA	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:0033617	mitochondrial cytochrome c oxidase assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001654	eye development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0008535	respiratory chain complex IV assembly	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006878	cellular copper ion homeostasis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0030016	myofibril	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0014823	response to activity	IEA	biological process
GO:0008535	respiratory chain complex IV assembly	IEA	biological process
GO:0055070	copper ion homeostasis	IEA	biological process
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003012	muscle system process	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0005507	copper ion binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05230	Central carbon metabolism in cancer

Diseases

Associated diseases	References
Cytochrome c oxidase	KEGG:H01368
Myopia	KEGG:H02041
Fatal infantile cardioencephalomyopathy	KEGG:H01200
Cytochrome c oxidase	KEGG:H01368
Myopia	KEGG:H02041
Fatal infantile cardioencephalomyopathy	KEGG:H01200
hypertrophic cardiomyopathy	PMID:10749987
Cytochrome-c oxidase deficiency disease	PMID:10749987
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq