Property Summary

NCBI Gene PubMed Count 16
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 4.6e-04
osteosarcoma -2.099 2.8e-07
atypical teratoid / rhabdoid tumor 1.400 1.7e-04
medulloblastoma, large-cell 1.100 5.7e-03
lung cancer 1.300 1.1e-03
Pick disease 1.400 1.6e-05
ovarian cancer -1.100 1.3e-05

 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.
17945021 2007 Enhancement of cell proliferation in various mammalian cell lines by gene insertion of a cyclin-dependent kinase homolog.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15863660 2005 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15235026 2004 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12474143 2003 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
11248251 2001 Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O.
9878253 1998 Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
2175025 1990 Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency.