ACO2 aconitase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACO2provided by HGNC
Official Full Name: aconitase 2provided by HGNC
Primary source: HGNC:HGNC:118
See related: Ensembl:ENSG00000100412 MIM:100850; AllianceGenome:HGNC:118
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ICRD; OCA8; OPA9; ACONM; HEL-S-284
Summary: The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
Expression: Broad expression in heart (RPKM 162.7), kidney (RPKM 93.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41469117..41528974)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41947611..42007811)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41865121..41924978)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.
Title: ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.
Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.
Title: Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Title: Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Title: Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Title: Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas.
Title: ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas.
This work identifies ACO2 as a relevant gene in cancer metabolic rewiring of MCF-7 cells, promoting a different utilisation of pyruvate and revealing the potential metabolic vulnerability of ACO2-associated malignancies.
Title: Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response.
Study showed that the expression of ACO2 was significantly increased in prostate cancer (PC) tissues and identified a positive correlation between ACO2 expression and the malignancy of prostate cancer. ACO2 protein expression and activity was higher in paclitaxel-resistant PC3 cells than in PTX-sensitive DU145 cells. These results indicate that ACO2 plays an important role in the development and drug resistance of PC.
Title: Zinc cooperates with p53 to inhibit the activity of mitochondrial aconitase through reactive oxygen species accumulation.
The study provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO2 deficiency.
Title: Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Dysfunctional mitochondrail Aco2, among the other bioenergetic parameters, is a key factor that could promote neurodegeneration
Title: Mitochondrial Aconitase in Neurodegenerative Disorders: Role of a Metabolism- related Molecule in Neurodegeneration.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Infantile cerebellar-retinal degeneration MedGen: C3281192 OMIM: 614559 GeneReviews: Not available	Compare labs
Optic atrophy 9 MedGen: C4225384 OMIM: 616289 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11380 (e-PCR)
- UniSTS:83991

D22S1253 (e-PCR)
- UniSTS:2853

RH48483 (e-PCR)
- UniSTS:73004

RH47879 (e-PCR)
- UniSTS:82996

D22S678 (e-PCR)
- UniSTS:54164

GDB:451682 (e-PCR)
- UniSTS:157344

A007B26 (e-PCR)
- UniSTS:9892

RH11189 (e-PCR)
- UniSTS:92335

MARC_5597-5598:1044046898:1 (e-PCR)
- UniSTS:269542

D22S998E (e-PCR)
- UniSTS:28909

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 4 iron, 4 sulfur cluster binding	IBA Inferred from Biological aspect of Ancestor more info
enables aconitate hydratase activity	EXP Inferred from Experiment more info	PubMed
enables aconitate hydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within citrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in isocitrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in response to isolation stress	IEA Inferred from Electronic Annotation more info
involved_in tricarboxylic acid cycle	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within tricarboxylic acid cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info
involved_in tricarboxylic acid cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: aconitate hydratase, mitochondrial

Names: aconitase 2, mitochondrial; citrate hydro-lyase; epididymis secretory sperm binding protein Li 284; mitochondrial aconitase

NP_001089.1

EC 4.2.1.3

XP_054181635.1

EC 4.2.1.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.