2. Gene
  3. ACO2 - aconitase 2 Gene

ACO2 - aconitase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ICRD; OCA8; OPA9; ACONM; HEL-S-284

Gene ID: 50 | Gene type: protein coding

About ACO2

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,469,117-41,528,974 (from NCBI)

This gene has 32 transcripts (splice variants), 260 orthologues, 2 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 162.7), kidney (RPKM 93.6) and 24 other tissues.

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]

ACO2 Products(1)

mRNA Protein Name
NM_001098.3 NP_001089.1 aconitate hydratase, mitochondrial precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables iron ion binding IDA
IDA: Inferred from direct assay
9630632 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within citrate metabolic process IDA
IDA: Inferred from direct assay
9630632 GOA
acts upstream of or within tricarboxylic acid cycle IDA
IDA: Inferred from direct assay
9630632 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACO2 Protein Structure

Aconitase

Aconitase: Aconitase family (aconitate hydratase) (64 - 503)

Aconitase_C

Aconitase_C: Aconitase C-terminal domain (583 - 711)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
Protein Preferred Names Protein Names

aconitate hydratase, mitochondrial

aconitase 2, mitochondrial

Recombinant ACO2 Proteins

Cat. No. Product Name Accession Purity
HY-P74432 Aconitase 2/ACO2 Protein, Human (sf9, His-GST) Q99798 (Q28-Q780) ≥95%

Related Diseases

Diseases Alias
Infantile Cerebellar-Retinal Degeneration

ICRD

Infantile Cerebellar Retinal Degeneration

Degeneration, Cerebellar-Retinal, Infantile
Optic Atrophy 9

OPA9

Atrophy, Optic, Type 9
Autosomal Recessive Isolated Optic Atrophy

Autosomal Recessive Non-Syndromic Optic Atrophy
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase
Athetosis
Retinal Degeneration

Degeneration Of Retina
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10

Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

Optic Atrophy 10

Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
Optic Atrophy 7 With Or Without Auditory Neuropathy

Optic Atrophy 7

OPA7

Autosomal Recessive Optic Atrophy, Opa7 Type

Optic Atrophy-7

Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330
Acute Tympanitis

Acute Myringitis
Behr Syndrome

BEHRS

Abortive Cerebellar Ataxia

Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities

Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of

Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss

Obsolete: Behr Syndrome

Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss

Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia
Combined Oxidative Phosphorylation Deficiency 37

COXPD37
Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve
Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00171 ACO2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ACO2 VGNC VGNC:37514
Bos taurus ACO2 VGNC VGNC:25546
Rattus norvegicus ACO2 RGD RGD:621360
Macaca mulatta ACO2 VGNC VGNC:69379
Mus musculus ACO2 MGD MGI:87880
Felis catus ACO2 VGNC VGNC:59516
Others ACO2 NCBI