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.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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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

Go to the HIV-1, Human Interaction Database

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