Aliases for MT-CO2 Gene

Aliases for MT-CO2 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase II 2 5
  • COX2 2 3 4
  • MTCO2 3 4
  • COII 3 4
  • Cytochrome C Oxidase Polypeptide II 4
  • Cytochrome C Oxidase Subunit II 3
  • Cytochrome C Oxidase Subunit 2 4
  • Cytochrome C Oxidase II 2
  • EC 1.9.3.1 50
  • EC 7.1.1.9 4
  • MT-CO2 5
  • COXII 4
  • CO2 2

External Ids for MT-CO2 Gene

Previous HGNC Symbols for MT-CO2 Gene

  • MTCO2

Summaries for MT-CO2 Gene

GeneCards Summary for MT-CO2 Gene

MT-CO2 (Mitochondrially Encoded Cytochrome C Oxidase II) is a Protein Coding gene. Diseases associated with MT-CO2 include Mitochondrial Complex Iv Deficiency, Nuclear Type 1 and Familial Colorectal Cancer. Among its related pathways are Pathways of neurodegeneration - multiple diseases and TP53 Regulates Metabolic Genes. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot Summary for MT-CO2 Gene

  • 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), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.

Gene Wiki entry for MT-CO2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-CO2 Gene

Genomics for MT-CO2 Gene

Genomic Locations for MT-CO2 Gene

Latest Assembly
chrMT:7,586-8,269
(GRCh38/hg38)
Size:
684 bases
Orientation:
Plus strand

Previous Assembly
chrMT:7,586-8,269
(GRCh37/hg19 by Ensembl)
Size:
684 bases
Orientation:
Plus strand

Genomic View for MT-CO2 Gene

Genes around MT-CO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-CO2 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-CO2 Gene

Proteins for MT-CO2 Gene

  • Protein details for MT-CO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00403-COX2_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 2
    Protein Accession:
    P00403
    Secondary Accessions:
    • Q37526

    Protein attributes for MT-CO2 Gene

    Size:
    227 amino acids
    Molecular mass:
    25565 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    • Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C, COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded in the nuclear genome (PubMed:30030519). The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). Found in a complex with TMEM177, COA6, COX18, COX20, SCO1 and SCO2 (PubMed:29154948). Interacts with TMEM177 in a COX20-dependent manner (PubMed:29154948). Interacts with COX20 (PubMed:23125284, PubMed:24403053, PubMed:28330871, PubMed:29154948). Interacts with COX16 (PubMed:29355485, PubMed:29381136).

    Three dimensional structures from OCA and Proteopedia for MT-CO2 Gene

neXtProt entry for MT-CO2 Gene

Selected DME Specific Peptides for MT-CO2 Gene

P00403:
  • YGQCSEICG
  • SPIMEEL
  • IGHQWYW
  • NHSFMPI
  • IALPSLR
  • DVLHSWA
  • RLLDVDNR
  • FHDHALM

Post-translational modifications for MT-CO2 Gene

  • Ubiquitination at Lys171
  • Modification sites at PhosphoSitePlus

Other Protein References for MT-CO2 Gene

ENSEMBL proteins:

Domains & Families for MT-CO2 Gene

Gene Families for MT-CO2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for MT-CO2 Gene

Suggested Antigen Peptide Sequences for MT-CO2 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase polypeptide II (COX2_HUMAN)
  • Cytochrome c oxidase subunit 2 (Q7GXZ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00403

UniProtKB/Swiss-Prot:

COX2_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 2 family.
Family:
  • Belongs to the cytochrome c oxidase subunit 2 family.
genes like me logo Genes that share domains with MT-CO2: view

Function for MT-CO2 Gene

Molecular function for MT-CO2 Gene

UniProtKB/Swiss-Prot 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), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4 [Fe(II)cytochrome c] + 4 H(+) + O2 = 4 [Fe(III)cytochrome c] + 2 H2O; Xref=Rhea:RHEA:11436, Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=7.1.1.9; Evidence={ECO:0000250|UniProtKB:P00410};.

Enzyme Numbers (IUBMB) for MT-CO2 Gene

Gene Ontology (GO) - Molecular Function for MT-CO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity NAS 2550900
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 23125284
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MT-CO2: view

Phenotypes for MT-CO2 Gene

genes like me logo Genes that share phenotypes with MT-CO2: view

Human Phenotype Ontology for MT-CO2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-CO2 Gene

Localization for MT-CO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-CO2 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-CO2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MT-CO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16826196
GO:0005743 mitochondrial inner membrane IDA,TAS --
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0045277 respiratory chain complex IV IDA 1651240
genes like me logo Genes that share ontologies with MT-CO2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MT-CO2 Gene

Pathways & Interactions for MT-CO2 Gene

genes like me logo Genes that share pathways with MT-CO2: view

Gene Ontology (GO) - Biological Process for MT-CO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen NAS,TAS --
GO:0007595 lactation IEA --
GO:0009409 response to cold IEA --
GO:0010729 positive regulation of hydrogen peroxide biosynthetic process IEA --
GO:0010940 positive regulation of necrotic cell death IEA --
genes like me logo Genes that share ontologies with MT-CO2: view

No data available for SIGNOR curated interactions for MT-CO2 Gene

Drugs & Compounds for MT-CO2 Gene

(13) Drugs for MT-CO2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Copper Approved, Investigational Pharma 276
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0

(4) Additional Compounds for MT-CO2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MT-CO2: view

Transcripts for MT-CO2 Gene

mRNA/cDNA for MT-CO2 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-CO2 Gene

No ASD Table

Relevant External Links for MT-CO2 Gene

GeneLoc Exon Structure for
MT-CO2

Expression for MT-CO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-CO2 Gene

Protein differential expression in normal tissues from HIPED for MT-CO2 Gene

This gene is overexpressed in Heart (9.1) and Nasal epithelium (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MT-CO2 Gene



Protein tissue co-expression partners for MT-CO2 Gene

- Elite partner

Evidence on tissue expression from TISSUES for MT-CO2 Gene

  • Liver(4.8)
  • Muscle(4.4)
  • Heart(4.3)
  • Skin(4.2)
  • Kidney(4.1)
  • Nervous system(4)
  • Adrenal gland(3.9)
  • Intestine(3.9)
  • Stomach(3.8)
  • Pancreas(3.8)
  • Lung(3.7)
  • Bone marrow(3.6)
  • Lymph node(3.6)
  • Thyroid gland(3.6)
  • Spleen(3.6)
  • Gall bladder(3.4)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with MT-CO2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-CO2 Gene

Orthologs for MT-CO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MT-CO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MT-CO2 30
  • 98 (a)
OneToOne
COX2 29
  • 90.46 (n)
Cow
(Bos Taurus)
Mammalia MT-CO2 30
  • 73 (a)
OneToOne
COX2 29
  • 71.21 (n)
Mouse
(Mus musculus)
Mammalia COX2 29
  • 72.58 (n)
mt-Co2 16 30
  • 71 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia COX2 29
  • 72.27 (n)
Dog
(Canis familiaris)
Mammalia COX2 29 30
  • 71.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MT-CO2 30
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COII 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COX2 29
  • 69.41 (n)
gga-mir-3527 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COX2 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia COX2 29
  • 68.94 (n)
Str.8896 29
Zebrafish
(Danio rerio)
Actinopterygii COX2 29
  • 68.48 (n)
mt-co2 30
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta COX2 29
  • 59.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta COX2 29
  • 57.69 (n)
mt:CoII 30
  • 56 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea COX2 29
  • 51.22 (n)
MTCE.31 30
  • 39 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes COX2 29
  • 51.5 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AMI001W 29
  • 50.55 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX2 29 30 32
  • 48.5 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons cox2 29
  • 55.82 (n)
Rice
(Oryza sativa)
Liliopsida cox2 29
  • 54.21 (n)
Os.23374 29
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox2 29
  • 50.39 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToOne
Species where no ortholog for MT-CO2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MT-CO2 Gene

ENSEMBL:
Gene Tree for MT-CO2 (if available)
TreeFam:
Gene Tree for MT-CO2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MT-CO2: view image
Alliance of Genome Resources:
Additional Orthologs for MT-CO2

Paralogs for MT-CO2 Gene

(2) SIMAP similar genes for MT-CO2 Gene using alignment to 1 proteins:

  • COX2_HUMAN
genes like me logo Genes that share paralogs with MT-CO2: view

No data available for Paralogs for MT-CO2 Gene

Variants for MT-CO2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-CO2 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
209212 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,781(+) CTGCTTCTTCGAATTT
NC_012920.1:m.5782_13922del8141
INITIATIOR_CODON_VARIANT,FRAMESHIFT
209213 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,793(+) ATTTGCAATTCAATAT
NC_012920.1:m.5794_14876del9083
INITIATIOR_CODON_VARIANT,FRAMESHIFT
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT
NC_012920.1:m.7730_11255del3526
INITIATIOR_CODON_VARIANT,FRAMESHIFT
994646 Benign: not specified 7,606(+) A/G
NC_012920.1:m.7606A>G
SYNONYMOUS
994647 Benign: not specified 7,645(+) T/C
NC_012920.1:m.7645T>C
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MT-CO2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for MT-CO2 Gene

Human Gene Mutation Database (HGMD)
MT-CO2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-CO2
Leiden Open Variation Database (LOVD)
MT-CO2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-CO2 Gene

Disorders for MT-CO2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for MT-CO2 Gene - From: CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COX2_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for MT-CO2

genes like me logo Genes that share disorders with MT-CO2: view

No data available for Genatlas for MT-CO2 Gene

Publications for MT-CO2 Gene

  1. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PMID: 17619138) Ahari SE … Bahar MA (Cellular and molecular neurobiology 2007) 3 22 40
  2. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. (PMID: 10486321) Rahman S … Schapira AH (American journal of human genetics 1999) 3 4 72
  3. COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. (PMID: 29355485) Cerqua C … Trevisson E (Biochimica et biophysica acta. Bioenergetics 2018) 3 4
  4. The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. (PMID: 29154948) Lorenzi I … Rehling P (Biochimica et biophysica acta. Molecular cell research 2018) 3 4
  5. COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. (PMID: 29381136) Aich A … Rehling P (eLife 2018) 3 4

Products for MT-CO2 Gene

Sources for MT-CO2 Gene