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Aliases for COX4I2 Gene

Aliases for COX4I2 Gene

  • Cytochrome C Oxidase Subunit IV Isoform 2 (Lung) 2 3
  • Cytochrome C Oxidase Subunit IV Isoform 2 2 4
  • Cytochrome C Oxidase Subunit IV-Like 2 2 3
  • COX IV-2 3 4
  • COX4L2 3 4
  • Cytochrome C Oxidase Subunit 4 Isoform 2, Mitochondrial 3
  • DJ857M17.2 3
  • COXIV-2 3
  • COX4-2 3
  • COX4B 3
  • COX4 3

External Ids for COX4I2 Gene

Previous Symbols for COX4I2 Gene

  • COX4L2

Summaries for COX4I2 Gene

Entrez Gene Summary for COX4I2 Gene

  • Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX4I2 Gene

COX4I2 (Cytochrome C Oxidase Subunit IV Isoform 2 (Lung)) is a Protein Coding gene. Diseases associated with COX4I2 include exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis and pancreatic insufficiency - anemia - hyperostosis. Among its related pathways are Metabolism and AMPK Enzyme Complex Pathway. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX4I1.

UniProtKB/Swiss-Prot for COX4I2 Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport

Gene Wiki entry for COX4I2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX4I2 Gene

Genomics for COX4I2 Gene

Genomic Location for COX4I2 Gene

31,637,882 bp from pter
31,645,032 bp from pter
7,151 bases
Plus strand

Genomic View for COX4I2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX4I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX4I2 Gene

Regulatory Elements for COX4I2 Gene

Proteins for COX4I2 Gene

  • Protein details for COX4I2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q6GTF4
    • Q9H0Z4

    Protein attributes for COX4I2 Gene

    171 amino acids
    Molecular mass:
    20010 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX4I2 Gene

Proteomics data for COX4I2 Gene at MOPED

Post-translational modifications for COX4I2 Gene

No Post-translational modifications

Other Protein References for COX4I2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX4I2 Gene

Domains for COX4I2 Gene

Gene Families for COX4I2 Gene

  • comIV :Mitochondrial respiratory chain complex / Complex IV

Protein Domains for COX4I2 Gene

Suggested Antigen Peptide Sequences for COX4I2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome c oxidase IV family.:
    • Q96KJ9
genes like me logo Genes that share domains with COX4I2: view

Function for COX4I2 Gene

Molecular function for COX4I2 Gene

UniProtKB/Swiss-Prot Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport

Gene Ontology (GO) - Molecular Function for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IDA 11311561
genes like me logo Genes that share ontologies with COX4I2: view
genes like me logo Genes that share phenotypes with COX4I2: view

Animal Models for COX4I2 Gene

MGI Knock Outs for COX4I2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for COX4I2 Gene

Localization for COX4I2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX4I2 Gene

Mitochondrion inner membrane.

Subcellular locations from

Jensen Localization Image for COX4I2 Gene COMPARTMENTS Subcellular localization image for COX4I2 gene
Compartment Confidence
mitochondrion 5
extracellular 1

Gene Ontology (GO) - Cellular Components for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005751 mitochondrial respiratory chain complex IV IC 11311561
GO:0031966 mitochondrial membrane --
genes like me logo Genes that share ontologies with COX4I2: view

Pathways for COX4I2 Gene

genes like me logo Genes that share pathways with COX4I2: view

Pathways by source for COX4I2 Gene

Gene Ontology (GO) - Biological Process for COX4I2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy NAS 11311561
GO:0045333 cellular respiration NAS 11911854
GO:0055114 oxidation-reduction process NAS 11311561
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX4I2: view

Compounds for COX4I2 Gene

(2) HMDB Compounds for COX4I2 Gene

Compound Synonyms Cas Number PubMed IDs
  • Oxygen
  • Dihydrogen oxide

(1) Novoseek inferred chemical compound relationships for COX4I2 Gene

Compound -log(P) Hits PubMed IDs
oxygen 15.8 3
genes like me logo Genes that share compounds with COX4I2: view

Transcripts for COX4I2 Gene

mRNA/cDNA for COX4I2 Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COX4I2 Gene

Cytochrome c oxidase subunit IV isoform 2 (lung):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COX4I2 Gene

No ASD Table

Relevant External Links for COX4I2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COX4I2 Gene

mRNA expression in normal human tissues for COX4I2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COX4I2 Gene

This gene is overexpressed in Lung (6.4) and Heart - Left Ventricle (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COX4I2 Gene

SOURCE GeneReport for Unigene cluster for COX4I2 Gene Hs.277101

mRNA Expression by UniProt/SwissProt for COX4I2 Gene

Tissue specificity: Highly expressed in lung
genes like me logo Genes that share expressions with COX4I2: view

Orthologs for COX4I2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX4I2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COX4I2 36
  • 98 (a)
LOC469913 35
  • 99.42 (n)
  • 98.25 (a)
(Bos Taurus)
Mammalia COX4I2 35
  • 84.99 (n)
  • 79.53 (a)
COX4I2 36
  • 80 (a)
(Canis familiaris)
Mammalia COX4I2 35
  • 84.92 (n)
  • 82.14 (a)
COX4I2 36
  • 57 (a)
(Mus musculus)
Mammalia Cox4i2 35
  • 77.78 (n)
  • 74.27 (a)
Cox4i2 16
Cox4i2 36
  • 74 (a)
(Monodelphis domestica)
Mammalia COX4I2 36
  • 59 (a)
(Rattus norvegicus)
Mammalia Cox4i2 35
  • 78.56 (n)
  • 71.35 (a)
(Anolis carolinensis)
Reptilia COX4I2 36
  • 52 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23896 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cox4i2 35
  • 63.72 (n)
  • 55.78 (a)
Str.14722 35
(Danio rerio)
Actinopterygii -- 35
cox4i2 36
  • 44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10396 36
  • 30 (a)
CoIV 36
  • 32 (a)
(Caenorhabditis elegans)
Secernentea W09C5.8 36
  • 26 (a)
Species with no ortholog for COX4I2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX4I2 Gene

Gene Tree for COX4I2 (if available)
Gene Tree for COX4I2 (if available)

Paralogs for COX4I2 Gene

Paralogs for COX4I2 Gene

Selected SIMAP similar genes for COX4I2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COX4I2: view

Variants for COX4I2 Gene

Sequence variations from dbSNP and Humsavar for COX4I2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs405244 -- 31,644,534(-) CCTTA(G/T)ACCCC intron-variant
rs418754 -- 31,644,581(-) TCCTA(G/T)AGCAT intron-variant
rs450004 -- 31,644,741(-) GATCA(G/T)GATCC intron-variant
rs1484998 -- 31,644,486(-) CAGTC(A/G)CCTCA intron-variant
rs1484999 -- 31,644,413(-) ggctc(A/T)accac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COX4I2 Gene

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990

Relevant External Links for COX4I2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX4I2 Gene

Disorders for COX4I2 Gene

(1) OMIM Diseases for COX4I2 Gene (607976)


  • Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. {ECO:0000269 PubMed:19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COX4I2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with COX4I2: view

Publications for COX4I2 Gene

  1. Mammalian subunit IV isoforms of cytochrome c oxidase. (PMID: 11311561) Huettemann M. … Grossman L.I. (Gene 2001) 2 3 4 23
  2. Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element. (PMID: 17937768) HA1ttemann M. … Grossman L.I. (FEBS J. 2007) 2 3 23
  3. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. (PMID: 19268275) Shteyer E. … Elpeleg O. (Am. J. Hum. Genet. 2009) 3 4 23
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 48

Products for COX4I2 Gene

Sources for COX4I2 Gene

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