Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84701
Gene name	Cytochrome c oxidase subunit 4I2
Gene symbol	COX4I2
Synonyms (NCBI Gene)	COX4COX4-2COX4BCOX4L2COXIV-2dJ857M17.2
Chromosome	20
Chromosome location	20q11.21
Summary	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119455950	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	NAS	11311561
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IBA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IDA	11311561
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IC	11311561
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045333	Process	Cellular respiration	NAS	11911854

MIM	HGNC	e!Ensembl
607976	16232	ENSG00000131055

Q96KJ9

Protein name

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial (Cytochrome c oxidase subunit IV isoform 2) (COX IV-2)

Protein function

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02936	COX4	33 → 170	Cytochrome c oxidase subunit IV	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in lung.

Sequence

MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAE
EQALKEKEKGSWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVI
WWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGLASRWDYEKKQWKK

Sequence length

171

Interactions

View interactions

	KEGG
	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction Thermogenesis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COX4I2-related disorder	Likely benign	rs539460095, rs765094514, rs61759491	RCV003941410 RCV003959752 RCV003962748
Pancreatic insufficiency-anemia-hyperostosis syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs147223483, rs119455950, rs199601484, rs145481393, rs528430338, rs148327783, rs375116097	RCV001335239 RCV000002774 RCV003143470 RCV003146700 RCV000300678 RCV003103834 RCV001001687

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	19268275
Atrial Fibrillation	Associate	38149324
Calvarial hyperostosis	Associate	19268275
Exocrine Pancreatic Insufficiency	Associate	19268275
Hypoxia	Associate	19268275
Hypoxia	Stimulate	38149324
Malabsorption Syndromes	Associate	19268275
Mitochondrial Diseases	Associate	38149324
Neoplasms	Associate	37927240

COX4I2 (cytochrome c oxidase subunit 4I2)