Identity
HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
ACONM,HEL-S-284,ICRD,OCA8,OPA9
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: 50
MIM: 100850
HGNC: 118
Ensembl: ENSG00000100412
Variants:
dbSNP: 50
ClinVar: 50
TCGA: ENSG00000100412
COSMIC: ACO2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100412 | ENST00000216254 | Q99798 |
| ENSG00000100412 | ENST00000396512 | A2A274 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38007539 | 2023 | ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes. | 2 |
| 38007539 | 2023 | ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes. | 2 |
| 33676027 | 2021 | Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling. | 13 |
| 33676027 | 2021 | Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling. | 13 |
| 31819175 | 2020 | Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response. | 27 |
| 32249333 | 2020 | ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas. | 4 |
| 32449285 | 2020 | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | 6 |
| 32519519 | 2020 | Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. | 6 |
| 33028849 | 2020 | Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. | 8 |
| 31819175 | 2020 | Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response. | 27 |
| 32249333 | 2020 | ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas. | 4 |
| 32449285 | 2020 | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | 6 |
| 32519519 | 2020 | Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. | 6 |
| 33028849 | 2020 | Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. | 8 |
| 30689204 | 2019 | Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. | 13 |
Citation
Dessen P
ACO2 (aconitase 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46419/aco2-(aconitase-2)
