Property Summary

NCBI Gene PubMed Count 19
Grant Count 5
R01 Count 5
Funding $424,357.75
PubMed Score 39.04
PubTator Score 8.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
non-small cell lung cancer -1.877 0.000
lung adenocarcinoma -1.100 0.000

Synonym

Accession Q96KJ9 Q6GTF4 Q9H0Z4
Symbols COX4
COX4B
COX4-2
COX4L2
COXIV-2
dJ857M17.2

Gene

Gene RIF (6)

PMID Text
23303788 Identification of three transcription factors that bind a conserved responsive element of the COX4I2 gene, namely recombination signal sequence-binding protein Jkappa (RBPJ), coiled-coil-helix-coiled-coil-helix domain 2 (CHCHD2) and CXXC finger protein 5 (CXXC5).
20877624 Observational study of gene-disease association. (HuGE Navigator)
19268275 Mutation analysis of COX4I2 is warranted in patients with malabsorption due to exocrine pancreatic insufficiency and in patients with dyserythropoeitic anemia.
19064571 Observational study of gene-disease association. (HuGE Navigator)
17937768 COX4I2 is regulated by a novel oxygen sensitive promoter element (5'-GGACGTTCCCACG-3') conserved in mammals. Gene activity is maximal at 4% oxygen. Lung cytochrome c oxidase (COX) is 2.5 fold more active compared to liver COX, which lacks COX4I2.
11311561 COX4I2 is expressed in the highly oxygenated lung tissue. It is found in all cell types of the lung.

AA Sequence

MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAEEQALKEKEKG      1 - 70
SWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVIWWQRVYVFPPKPITLTDERK     71 - 140
AQQLQRMLDMKVNPVQGLASRWDYEKKQWKK                                           141 - 171
//

Text Mined References (19)

PMID Year Title
23303788 2013 Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19268275 2009 Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
17937768 2007 Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element.
17418790 2007 HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11911854 2002 Differentiation-dependent repression of c-myc, B22, COX II and COX IV genes in murine erythroleukemia (MEL) cells.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
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