Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COX4I2 Gene

Aliases for COX4I2 Gene

  • Cytochrome C Oxidase Subunit 4I2 2 3 5
  • 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 HGNC Symbols for COX4I2 Gene

  • COX4L2

Previous GeneCards Identifiers for COX4I2 Gene

  • GC20P030013
  • GC20P030923
  • GC20P030970
  • GC20P029689
  • GC20P030225
  • GC20P027014

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 4I2) is a Protein Coding gene. Diseases associated with COX4I2 include Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis and Exocrine Pancreatic Insufficiency. Among its related pathways are AMPK Enzyme Complex Pathway and Alzheimer's disease. 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

Regulatory Elements for COX4I2 Gene

Enhancers for COX4I2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around COX4I2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COX4I2 Gene

Chromosome:
20
Start:
31,637,879 bp from pter
End:
31,645,009 bp from pter
Size:
7,131 bases
Orientation:
Plus strand

Genomic View for COX4I2 Gene

Genes around COX4I2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX4I2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX4I2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX4I2 Gene

Proteins for COX4I2 Gene

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

    Protein Symbol:
    Q96KJ9-COX42_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
    Protein Accession:
    Q96KJ9
    Secondary Accessions:
    • Q6GTF4
    • Q9H0Z4

    Protein attributes for COX4I2 Gene

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

neXtProt entry for COX4I2 Gene

Post-translational modifications for COX4I2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX4I2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COX4I2 Gene

Domains & Families for COX4I2 Gene

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

Q96KJ9

UniProtKB/Swiss-Prot:

COX42_HUMAN :
  • Belongs to the cytochrome c oxidase IV family.
Family:
  • Belongs to the cytochrome c oxidase IV family.
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

Human Phenotype Ontology for COX4I2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COX4I2 Gene

MGI Knock Outs for COX4I2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for COX4I2 Gene

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

Pathways & Interactions 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:0006123 mitochondrial electron transport, cytochrome c to oxygen IBA --
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

No data available for SIGNOR curated interactions for COX4I2 Gene

Drugs & Compounds for COX4I2 Gene

(2) Drugs for COX4I2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with COX4I2: view

Transcripts for COX4I2 Gene

mRNA/cDNA for COX4I2 Gene

(4) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for COX4I2 Gene

GeneLoc Exon Structure for
COX4I2
ECgene alternative splicing isoforms for
COX4I2

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 (x6.4) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for COX4I2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COX4I2 Gene



Protein tissue co-expression partners for COX4I2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX4I2 Gene:

COX4I2

SOURCE GeneReport for Unigene cluster for COX4I2 Gene:

Hs.277101

mRNA Expression by UniProt/SwissProt for COX4I2 Gene:

Q96KJ9-COX42_HUMAN
Tissue specificity: Highly expressed in lung.
genes like me logo Genes that share expression patterns with COX4I2: view

Primer Products

Orthologs for COX4I2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX4I2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COX4I2 34
  • 84.99 (n)
  • 79.53 (a)
COX4I2 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX4I2 34
  • 84.92 (n)
  • 82.14 (a)
COX4I2 35
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox4i2 34
  • 77.78 (n)
  • 74.27 (a)
Cox4i2 16
Cox4i2 35
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox4i2 34
  • 78.56 (n)
  • 71.35 (a)
oppossum
(Monodelphis domestica)
Mammalia COX4I2 35
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COX4I2 35
  • 98 (a)
OneToOne
LOC469913 34
  • 99.42 (n)
  • 98.25 (a)
lizard
(Anolis carolinensis)
Reptilia COX4I2 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox4i2 34
  • 63.72 (n)
  • 55.78 (a)
Str.14722 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23896 34
zebrafish
(Danio rerio)
Actinopterygii -- 34
cox4i2 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10396 35
  • 30 (a)
ManyToMany
CoIV 35
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea W09C5.8 35
  • 26 (a)
OneToMany
Species where no ortholog for COX4I2 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for COX4I2 (if available)
TreeFam:
Gene Tree for COX4I2 (if available)

Paralogs for COX4I2 Gene

Paralogs for COX4I2 Gene

(1) 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
rs11907253 - 31,644,870(+) CTCCC(A/G/T)CTGGG reference, missense
rs119455950 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) 31,644,800(+) CGGAC(A/G/T)AGCGG reference, missense
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

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

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585911 CNV gain 21841781

Variation tolerance for COX4I2 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX4I2 Gene

Human Gene Mutation Database (HGMD)
COX4I2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX4I2

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

Disorders for COX4I2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COX4I2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
  • pancreatic insufficiency-anemia-hyperostosis syndrome
exocrine pancreatic insufficiency
calvarial hyperostosis
  • isolated hyperostosis of the calvarium
hyperostosis
  • bone hypertrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COX42_HUMAN
  • 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)
COX4I2
Human Genome Epidemiology (HuGE) Navigator
COX4I2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX4I2
genes like me logo Genes that share disorders with COX4I2: view

No data available for Genatlas for COX4I2 Gene

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 22 65
  2. 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 22 65
  3. 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 22 65
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 65

Products for COX4I2 Gene

Sources for COX4I2 Gene

Content