Identity
HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
COX6AH,COXVIAH,MC4DN18
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: 1339
MIM: 602009
HGNC: 2279
Ensembl: ENSG00000156885
Variants:
dbSNP: 1339
ClinVar: 1339
TCGA: ENSG00000156885
COSMIC: COX6A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000156885 | ENST00000287490 | Q02221 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38072986 | 2023 | COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes. | 0 |
| 38072986 | 2023 | COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes. | 0 |
| 34686767 | 2022 | Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia. | 29 |
| 34686767 | 2022 | Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia. | 29 |
| 32744742 | 2020 | Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function. | 8 |
| 32744742 | 2020 | Complex IV subunit isoform COX6A2 protects fast-spiking interneurons from oxidative stress and supports their function. | 8 |
| 31155743 | 2019 | COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. | 12 |
| 31155743 | 2019 | COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. | 12 |
Citation
Dessen P
COX6A2 (cytochrome c oxidase subunit 6A2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40136/cox6a2
