• Gene id: 125965

Gene Summary

• Gene Symbol: COX6B2   Gene   UCSC   Ensembl
• Aliases: COXVIB2, CT59
• Gene name: cytochrome c oxidase subunit 6B2
• Alternate names: cytochrome c oxidase subunit 6B2, COX VIb-2, cancer/testis antigen 59, cytochrome c oxidase subunit VIb polypeptide 2 (testis), cytochrome c oxidase subunit VIb, testes-specific,
• Gene location: 19q13.42 (55354718: 55349703)     Exons: 8     NC_000019.10
• OMIM: 617471

Protein Summary

• Protein general information: Q6YFQ2  
  • Name: Cytochrome c oxidase subunit 6B2 (Cancer/testis antigen 59) (CT59) (Cytochrome c oxidase subunit VIb isoform 2) (COX VIb 2) (Cytochrome c oxidase subunit VIb, testis specific isoform)
  • Length: 88  
  • Mass: 10529
  • Tissue specificity: Testis specific. Weak expression in thymus and heart. Expressed in cancer cell lines. {ECO
• Sequence:

  MLDVEAQEPPKGKWSTPPFDPRFPSQNQIRNCYQNFLDYHRCLKTRTRRGKSTQPCEYYFRVYHSLCPISWVESW
  NEQIKNGIFAGKI

• Structural information:
  • Protein Domains: (29..7-)
    (/note="CHCH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01150"-)
  • Interpro: IPR003213  IPR036549  
  • Prosite: PS51808
  • CDD: cd00926
  • STRING: ENSP00000467266
• Other Databases: GeneCards:  COX6B2  Malacards:  COX6B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0030061	mitochondrial crista	IBA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0030061	mitochondrial crista	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray