Identity
HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
CSRP2BP,MC4DN19
FUSION GENES
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: 100303755
MIM: 614771
HGNC: 40045
Ensembl: ENSG00000232838
Variants:
dbSNP: 100303755
ClinVar: 100303755
TCGA: ENSG00000232838
COSMIC: PET117
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000232838 | ENST00000432901 | Q6UWS5 |
| ENSG00000232838 | ENST00000432901 | L0R6F6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28199844 | 2017 | MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. | 49 |
| 28386624 | 2017 | Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. | 17 |
| 28199844 | 2017 | MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. | 49 |
| 28386624 | 2017 | Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. | 17 |
| 22356826 | 2012 | Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. | 48 |
| 22356826 | 2012 | Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. | 48 |
Citation
Dessen P
PET117 (PET117 cytochrome c oxidase chaperone)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71830/pet117-(pet117-cytochrome-c-oxidase-chaperone)
