Property Summary

NCBI Gene PubMed Count 16
Grant Count 6
R01 Count 6
Funding $252,231.37
PubMed Score 20.18
PubTator Score 12.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -2.000 0.000
osteosarcoma -2.099 0.000
atypical teratoid / rhabdoid tumor 1.400 0.000
medulloblastoma, large-cell 1.100 0.006
lung cancer 1.300 0.001
Pick disease 1.400 0.000
ovarian cancer -1.100 0.000

 GWAS Trait (1)

Gene RIF (8)

PMID Text
26940873 Mutations of COX15 causing single amino acid conversions are associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20049701 The expression of the AOX, well-tolerated by the cells, compensates for both the growth defect and the pronounced oxidant-sensitivity of COX-deficient human cells.
19826901 COX 15 mRNA was significantly more abundant in the cerebral tissue of Alzheimer's disease (AD) patients and COX10 and COX15 SNP were significantly less represented in the patient group, suggesting a possible protective role toward the risk for AD
19826901 Observational study of gene-disease association. (HuGE Navigator)
17945021 cdkl3 transfected in anchorage-independent (suspension) HeLa cells overexpressed relative to attached cells and lead to elevated proliferation and viability relative to untransfected. Same in two HEK-293 and a CHO cell lines.
15235026 A patient with typical clinical and neuroradiological features of Leigh syndrome and cytochrome oxidase deficiency was found to have a mutation in the COX15 gene.
12474143 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

AA Sequence

MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVG      1 - 70
RWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLT     71 - 140
EFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKS    141 - 210
DSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAF    211 - 280
VAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLP    281 - 350
RRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK              351 - 410
//

Text Mined References (22)

PMID Year Title
26940873 2016 Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22412388 2012 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20049701 2009 Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.
19826901 2009 Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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