MT-CO2 mitochondrially encoded cytochrome c oxidase II [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-CO2provided by HGNC
Official Full Name: mitochondrially encoded cytochrome c oxidase IIprovided by HGNC
Primary source: HGNC:HGNC:7421
See related: MIM:516040; AllianceGenome:HGNC:7421
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COII; MTCO2; COX2
Summary: Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of mitochondrial membrane and respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (7586..8269)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (7586..8269)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Helicobacter pylori vacA affects the expression of COX-2 in the duodenal mucosa of patients with duodenitis.
Title: Helicobacter pylori vacA affects the expression of COX-2 in the duodenal mucosa of patients with duodenitis.
15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection.
Title: 15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection.
Elevated expression levels of COX-2, IL-8 and VEGF in colon adenocarcinoma.
Title: Elevated expression levels of COX-2, IL-8 and VEGF in colon adenocarcinoma.
Interferon-gamma is quintessential for NOS2 and COX2 expression in ER[-] breast tumors that lead to poor outcome.
Title: Interferon-gamma is quintessential for NOS2 and COX2 expression in ER(-) breast tumors that lead to poor outcome.
Immunohistochemical Study and Clinicopathologic Correlation of Cox-2 and Her-2 Expression in Colorectal Carcinoma: A 5-Year Retrospective Study.
Title: Immunohistochemical Study and Clinicopathologic Correlation of Cox-2 and Her-2 Expression in Colorectal Carcinoma: A 5-Year Retrospective Study.
Mitochondrial gene COX2 methylation and downregulation is a biomarker of aging in heart mesenchymal stem cells.
Title: Mitochondrial gene COX2 methylation and downregulation is a biomarker of aging in heart mesenchymal stem cells.
Mitochondrial miR-181a-5p promotes glucose metabolism reprogramming in liver cancer by regulating the electron transport chain.
Title: Mitochondrial miR-181a-5p promotes glucose metabolism reprogramming in liver cancer by regulating the electron transport chain.
Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease.
Title: Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease.
COX-1, COX-2, and CD147 appear to be independently regulated in oral squamous cell carcinoma (OSCC), potentially representing 2 therapeutic targets for future investigation. COX-1 expression in OSCC deserves further study because it may be an important determinant of PGE2 secretion from OSCC cells
Title: Cyclooxygenase and CD147 expression in oral squamous cell carcinoma patient samples and cell lines.
MT-CO2 mutation m.8088delT resulting in a premature stop codon was identified in a patient with myopathy and perturbed acylcarnitine profile.
Title: Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

See SNP Geneview Report

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples	PubMed
capsid	gag	The interaction of HIV-1 CA with human cellular cytochrome c oxidase II mitochondrial protein (MT-CO2) is identified by yeast two-hybrid screen	PubMed

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S813E (e-PCR)
- UniSTS:92461

PMC109173P1 (e-PCR)
- UniSTS:270154

PMC20756P1 (e-PCR)
- UniSTS:271961

SHGC-57364 (e-PCR)
- UniSTS:67674

PMC20756P2 (e-PCR)
- UniSTS:271962

PMC20756P3 (e-PCR)
- UniSTS:271963

RH98513 (e-PCR)
- UniSTS:83580

D1S2077E (e-PCR)
- UniSTS:151716

PMC55343P2 (e-PCR)
- UniSTS:273325

PMC55343P3 (e-PCR)
- UniSTS:273326

PMC55343P4 (e-PCR)
- UniSTS:273327

PMC196577P3 (e-PCR)
- UniSTS:271816

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info
contributes_to cytochrome-c oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to cytochrome-c oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytochrome-c oxidase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP synthesis coupled electron transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, cytochrome c to oxygen	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed