Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 285521
MIM: 610428
HGNC: 26801
Ensembl: ENSG00000163626
Variants:
dbSNP: 285521
ClinVar: 285521
TCGA: ENSG00000163626
COSMIC: COX18
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163626 | ENST00000295890 | Q8N8Q8 |
| ENSG00000163626 | ENST00000449739 | Q8N8Q8 |
| ENSG00000163626 | ENST00000507544 | B7ZL88 |
| ENSG00000163626 | ENST00000510031 | Q8N8Q8 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37468577 | 2023 | A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. | 4 |
| 37468577 | 2023 | A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. | 4 |
| 28330871 | 2017 | Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. | 38 |
| 28330871 | 2017 | Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. | 38 |
| 20200953 | 2010 | Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. | 27 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20819778 | 2010 | MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. | 26 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20200953 | 2010 | Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. | 27 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20819778 | 2010 | MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. | 26 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19373256 | 2009 | Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. | 4 |
| 19373256 | 2009 | Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. | 4 |
| 16212937 | 2005 | hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. | 15 |
Citation
Dessen P
COX18 (cytochrome c oxidase assembly factor COX18)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54231/cox18-(cytochrome-c-oxidase-assembly-factor-cox18)
