• Gene id: 1349

Gene Summary

• Gene Symbol: COX7B   Gene   UCSC   Ensembl
• Aliases: APLCC, LSDMCA2
• Gene name: cytochrome c oxidase subunit 7B
• Alternate names: cytochrome c oxidase subunit 7B, mitochondrial, cytochrome c oxidase polypeptide VIIb, cytochrome c oxidase subunit VIIb, cytochrome-c oxidase chain VIIb,
• Gene location: Xq21.1 (56221981: 56202178)     Exons: 10     NC_000012.12
• Gene summary(Entrez): Cytochrome c oxidase (COX), 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 3 catalytic subunits encoded by mitochond
• OMIM: 300885

Protein Summary

• Protein general information: P24311  
  • Name: Cytochrome c oxidase subunit 7B, mitochondrial (Cytochrome c oxidase polypeptide VIIb)
  • Length: 80  
  • Mass: 9161
• Sequence:

  MFPLVKSALNRLQVRSIQQTMARQSHQKRTPDFHDKYGNAVLASGATFCIVTWTYVATQVGIEWNLSPVGRVTPK
  EWRNQ

• Structural information:
  • Interpro: IPR008433  IPR023272  
  • CDD: cd01403
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000417656
• Other Databases: GeneCards:  COX7B  Malacards:  COX7B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045277	respiratory chain complex IV	IBA	cellular component
GO:0007417	central nervous system development	IMP	biological process
GO:0005746	mitochondrial respirasome	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	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
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Microphthalmia with linear skin defects syndrome	KEGG:H01904
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R