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

    Gene ID: 4513, updated on 28-Oct-2024

    Summary

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    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, Oct 2024]
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    Genomic context

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    See MT-CO2 in Genome Data Viewer
    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_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Ser Neighboring gene tRNA-Asp Neighboring gene tRNA-Lys Neighboring gene ATP synthase F0 subunit 8 Neighboring gene ATP synthase F0 subunit 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease. Heidari MM, et al. Appl Biochem Biotechnol, 2020 Jul. PMID 32096057
    2. [Cytochrome C oxidase expression and endothelial cell apoptosis in lungs of patients with chronic obstructive pulmonary disease]. Yang M, et al. Zhonghua Jie He He Hu Xi Za Zhi, 2010 Sep. PMID 21092633
    3. Differential modulation of mitochondrial OXPHOS system during HIV-1 induced T-cell apoptosis: up regulation of Complex-IV subunit COX-II and its possible implications. Tripathy MK, et al. Apoptosis, 2010 Jan. PMID 19771519
    4. Mitochondrial cytochrome c oxidase subunit II variations predict adverse prognosis in cytogenetically normal acute myeloid leukaemia. Silkjaer T, et al. Eur J Haematol, 2013 Oct. PMID 23826975
    5. A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy. Mkaouar-Rebai E, et al. Mitochondrial DNA, 2014 Oct. PMID 23841600

    See all (164) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    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

    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

    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 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 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 

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit II
    YP_003024029.1
    • cytochrome c oxidase II

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_012920.1 Reference assembly

      Range
      7586..8269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. YP_003024029.1 cytochrome c oxidase subunit II (mitochondrion) [Homo sapiens]

      See identical proteins and their annotated locations for YP_003024029.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      P00403, Q37526
      UniProtKB/TrEMBL
      A0A1B0VYS2, A0A1X7RBF7, A0A343UAQ9, A0A343V3Y6, A0A3Q8UFB0, B2XL43, B3DE06, D7NUN3, F1AZ87, G9LKX8, H9RAX1, H9SYF8, K7WVJ5, L7NVC9, Q09U41, Q15HH9, Q4GQP0, Q7Y626, Q7Y6N0, Q8HNR6, Q8WCW3, Q9B138, Q9B2U8, S4STI1, U5Z487, V9JPM6
      Related
      ENSP00000354876.1
      Conserved Domains (1) summary
      MTH00098
      Location:1 → 227
      COX2; cytochrome c oxidase subunit II; Validated
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00403.1 P00403

    Gene LinkOut

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