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FLASH GENE

Symbol

ACO2

contributors: mct - updated : 22-06-2022

HGNC name	aconitase 2, mitochondrial
HGNC id	118

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICRD Infantile Cerebellar-Retinal Degeneration OPA9 optic atrophy 9
Location	22q13.2      Physical location : 41.865.128 - 41.924.992
Synonym name	aconitate hydratase
	citrate hydro-lyase
Synonym symbol(s)	ACONM, MGC20605, MGC33908, aconitase, mACON, HEL-S-284, ICRD, OCA8, OPA9
EC.number	4.2.1.3

DNA

TYPE	functioning gene
STRUCTURE	59.86 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	promoter is contained in a 153-bp 5prime fragment lacking a TATA or CAAT sequence and Sp1 binding to a specific Sp1 site is required for promoter activity while other transcription factors are recruited through protein-protein interactions
	two putative TP53 response elements were identified within the promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	multiple isoforms of the protein (Mirel)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001098 18 - 2744 NP_001089 - 780 - 1998 9630632

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Reproductive female system uterus cervix   highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

MetalloP

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to murine Aco2
	ortholog to rattus aco2

Homologene

FAMILY

aconitase/IPM isomerase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus

basic FUNCTION	involved in the second step of citric acid cycle
	plays an important role in the unique pathway of citrate accumulation in prostate epithelial cells through its limited activity
	key enzyme in citrate oxidation in prostate epithelial cells, and its abnormal expression has been implicated in tumorigenesis of the prostate
	role for OGG1 and ACO2 in preserving alveolar epithelial cell (AEC) mtDNA integrity, thereby preventing oxidant-induced mitochondrial dysfunction, TP53 mitochondrial translocation, and intrinsic apoptosis
	ACO1 and ACO2 are iron-sulfur proteins and both catalyse conversion of citrate to isocitrate
	is involved in cellular metabolism through the tricarboxylic acid cycle
	is involved in the energy generation and susceptible to increased oxidative stress that would lead to inactivation of its activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	iron homeostasis

PATHWAY

metabolism

carbohydrate , energetic

signaling

citric acid cycle

a component

iron sulfur protein

INTERACTION

DNA

RNA

small molecule

protein	FXN is an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation
	interacting with TP53 (TP53 downregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells)

cell & other

REGULATION

Other

regulation of mitochondrial aconitase activity by PKC-dependent phosphorylation

ASSOCIATED DISORDERS

corresponding disease(s)

ICRD , OPA9

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   Friedreich ataxia tumoral       loss of function promotes colorectal cancer progression via SCD1-mediated lipid remodeling constitutional       loss of function is a key factor that could promote neurodegeneration

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS