Aliases for MT-CO2 Gene

Aliases for MT-CO2 Gene

  • Mitochondrially Encoded Cytochrome C Oxidase II 2 5
  • MTCO2 3 4
  • COII 3 4
  • COX2 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 52
  • COXII 4

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 and Familial Colorectal Cancer. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot Summary for MT-CO2 Gene

  • 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.

Gene Wiki entry for MT-CO2 Gene

Additional gene information 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

Genomic Locations for MT-CO2 Gene
chrMT:7,586-8,269
(GRCh38/hg38)
Size:
684 bases
Orientation:
Plus strand
chrMT:7,586-8,269
(GRCh37/hg19)
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:
    • 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:29154948, PubMed:24403053, PubMed:23125284, PubMed:28330871). 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

Blocks:
  • Cytochrome c oxidase subunit II signature
InterPro:
ProtoNet:

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:
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.

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 TAS,IDA --
GO:0016020 membrane IEA,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 Full agonist, Agonist, Target 0
Oxygen Approved, Vet_approved Pharma 0
Copper Approved, Investigational Pharma 236
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(4.3)
  • Heart(4.1)
  • Kidney(3.9)
  • Nervous system(3.8)
  • Intestine(3.7)
  • Adrenal gland(3.6)
  • Skin(3.6)
  • Lung(3.5)
  • Gall bladder(3.4)
  • Pancreas(3.4)
  • Stomach(3.4)
  • Bone marrow(3.3)
  • Lymph node(3.3)
  • Spleen(3.2)
  • Thyroid gland(3.2)
  • Blood(2)
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 31
  • 98 (a)
OneToOne
COX2 30
  • 90.46 (n)
cow
(Bos Taurus)
Mammalia MT-CO2 31
  • 73 (a)
OneToOne
COX2 30
  • 71.21 (n)
mouse
(Mus musculus)
Mammalia COX2 30
  • 72.58 (n)
mt-Co2 17 31
  • 71 (a)
rat
(Rattus norvegicus)
Mammalia COX2 30
  • 72.27 (n)
dog
(Canis familiaris)
Mammalia COX2 31 30
  • 71.52 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-CO2 31
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COII 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX2 30
  • 69.41 (n)
gga-mir-3527 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia COX2 30
  • 68.94 (n)
Str.8896 30
zebrafish
(Danio rerio)
Actinopterygii COX2 30
  • 68.48 (n)
mt-co2 31
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta COX2 30
  • 59.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta COX2 30
  • 57.69 (n)
mt:CoII 31
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea COX2 30
  • 51.22 (n)
MTCE.31 31
  • 39 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes COX2 30
  • 51.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AMI001W 30
  • 50.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX2 33 31 30
  • 48.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons cox2 30
  • 55.82 (n)
rice
(Oryza sativa)
Liliopsida cox2 30
  • 54.21 (n)
Os.23374 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cox2 30
  • 50.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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 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

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
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT
692748 Benign: Leigh syndrome 7,598(+) G/A MISSENSE_VARIANT
692749 Benign: Leigh syndrome 7,604(+) G/A MISSENSE_VARIANT
692750 Uncertain Significance: Leigh syndrome 7,608(+) G/A MISSENSE_VARIANT
692751 Uncertain Significance: Leigh syndrome 7,628(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MT-CO2 Gene

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

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

(22) MalaCards diseases for MT-CO2 Gene - From: UniProtKB/Swiss-Prot, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
familial colorectal cancer
  • colorectal cancer, familial
mitochondrial disorders
  • mitochondrial encephalomyopathies
mitochondrial metabolism disease
  • mitochondrial diseases
tetralogy of fallot
  • tof
- 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 mutations 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 23 41 54
  2. 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 54
  3. COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. (PMID: 29381136) Aich A … Rehling P (eLife 2018) 3 4 54
  4. 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 54
  5. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. (PMID: 28330871) Bourens M … Barrientos A (The Journal of biological chemistry 2017) 3 4 54

Products for MT-CO2 Gene

Sources for MT-CO2 Gene