MT-CO2

mitochondrially encoded cytochrome c oxidase II, the group of Mitochondrially encoded protein coding genes|Mitochondrial complex IV: cytochrome c oxidase subunits

Basic information

Region (hg38): M:7585-8269

Previous symbols: [ "MTCO2" ]

Links

ENSG00000198712 ∙ NCBI:4513 ∙ OMIM:516040 ∙ HGNC:7421 ∙ Uniprot:P00403 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• MELAS syndrome (Supportive), mode of inheritance: Mitochondrial
• cytochrome-c oxidase deficiency disease (Supportive), mode of inheritance: AR
• Leigh syndrome (Limited), mode of inheritance: Mitochondrial
• mitochondrial disease (Definitive), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cytochrome c oxidase deficiency	Maternal	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic; Ophthalmologic	10205264

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-CO2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-CO2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-CO2

This is a list of pathogenic ClinVar variants found in the MT-CO2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
M-7587-T-C		Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic (May 01, 1999)
M-7598-G-A		Leigh syndrome	Benign (Oct 17, 2019)
M-7604-G-A		Leigh syndrome	Benign (Oct 17, 2019)
M-7606-A-G		not specified	Benign (Oct 29, 2019)
M-7608-G-A		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7623-C-T		not specified	Uncertain significance (May 04, 2022)
M-7624-T-A			Benign (Nov 16, 2018)
M-7628-C-A		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7632-T-C		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7637-G-A		not specified • Leigh syndrome • Mitochondrial disease	Uncertain significance (Jun 26, 2023)
M-7637-GA-G		Tetralogy of Fallot	Pathogenic (Oct 25, 2018)
M-7645-T-C		not specified	Benign (Mar 26, 2020)
M-7649-A-G		Leigh syndrome	Likely benign (Oct 17, 2019)
M-7650-C-T		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7661-C-CCCA		Abnormal aortic valve physiology	Likely pathogenic (-)
M-7664-G-A		Leigh syndrome	Benign (Oct 17, 2019)
M-7664-G-T		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7668-T-TCCA		Abnormal aortic valve physiology	Likely pathogenic (-)
M-7671-T-A		Mitochondrial complex IV deficiency, nuclear type 1	Pathogenic (Oct 01, 1999)
M-7673-A-G		Leigh syndrome	Benign (Oct 17, 2019)
M-7674-T-C		Leigh syndrome	Likely benign (Oct 17, 2019)
M-7679-T-C		Leigh syndrome	Benign (Oct 17, 2019)
M-7680-T-TGTC		Abnormal mitral valve physiology	Pathogenic (-)
M-7686-T-C		Leigh syndrome	Uncertain significance (Oct 17, 2019)
M-7691-T-C		Leigh syndrome	Benign (Oct 17, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.
• Disease: DISEASE: Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269|PubMed:10486321}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Electron Transport Chain;Endothelin Pathways;JAK-STAT;EGF-EGFR Signaling Pathway;Gene expression (Transcription);mechanism of gene regulation by peroxisome proliferators via ppara;mechanism of acetaminophen activity and toxicity;eicosanoid metabolism;Generic Transcription Pathway;RNA Polymerase II Transcription;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;TP53 Regulates Metabolic Genes;EGFR1;Transcriptional Regulation by TP53;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.;Regulation of nuclear beta catenin signaling and target gene transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.128
• ghis: 0.419

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Mouse Genome Informatics

• Gene name: mt-Co2

Gene ontology

• Biological process: mitochondrial electron transport, cytochrome c to oxygen;lactation;response to cold;positive regulation of hydrogen peroxide biosynthetic process;positive regulation of necrotic cell death;ATP synthesis coupled electron transport;proton transmembrane transport;positive regulation of ATP biosynthetic process
• Cellular component: mitochondrion;mitochondrial inner membrane;membrane;integral component of membrane;respiratory chain complex IV
• Molecular function: cytochrome-c oxidase activity;copper ion binding;protein binding