ACO2 (aconitase 2)

2007-02-01  

Identity

HGNC
ACO2
LOCATION
22q13.2
LOCUSID
50
ALIAS
ACONM,HEL-S-284,ICRD,OCA8,OPA9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50
MIM: 100850
HGNC: 118
Ensembl: ENSG00000100412

Variants:

dbSNP: 50
ClinVar: 50
TCGA: ENSG00000100412
COSMIC: ACO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100412ENST00000216254Q99798
ENSG00000100412ENST00000396512A2A274

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Glyoxylate and dicarboxylate metabolismKEGGko00630
Citrate cycle (TCA cycle)KEGGhsa00020
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380075392023ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.2
380075392023ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.2
336760272021Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.13
336760272021Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.13
318191752020Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response.27
322493332020ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas.4
324492852020Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.6
325195192020Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.6
330288492020Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.8
318191752020Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response.27
322493332020ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas.4
324492852020Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.6
325195192020Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.6
330288492020Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.8
306892042019Clinical, 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/js/js/lib/case-report-explorer/