Version 5.4
Homo sapiens Protein: COX4I2
Summary
InnateDB Protein IDBP-63643.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COX4I2
Protein Name cytochrome c oxidase subunit IV isoform 2 (lung)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000365243
InnateDB Gene IDBG-63641 (COX4I2)
Protein Structure
UniProt Annotation
Function This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
Subcellular Localization Mitochondrion inner membrane.
Disease Associations 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:0000269PubMed:19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in lung.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004129 cytochrome-c oxidase activity
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0045333 cellular respiration
GO:0055114 oxidation-reduction process
GO:1902600 hydrogen ion transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005751 mitochondrial respiratory chain complex IV
GO:0031966 mitochondrial membrane
Protein Structure and Domains
PDB ID
InterPro IPR004203 Cytochrome c oxidase subunit IV family
IPR013288 Cytochrome c oxidase subunit IV
PFAM PF02936
PRINTS PR01873
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96KJ9
PhosphoSite PhosphoSite-
TrEMBL H6SG14
UniProt Splice Variant
Entrez Gene 84701
UniGene
RefSeq NP_115998
HUGO HGNC:16232
OMIM 607976
CCDS CCDS13187
HPRD 12143
IMGT
EMBL AF257180 AL117381 BC057779 CH471077 HE647859
GenPept AAH57779 AAK49333 CAI23028 CCF23107 EAW76431

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca