Gene

aco2

ID
ZDB-GENE-030131-1390
Name
aconitase 2, mitochondrial
Symbol
aco2 Nomenclature History
Previous Names
  • cb1017 (1)
  • wu:fa10e03 (1)
  • wu:fb69g04 (1)
  • wu:fc20c11 (1)
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have 4 iron, 4 sulfur cluster binding activity and aconitate hydratase activity. Predicted to be involved in tricarboxylic acid cycle. Predicted to localize to cytosol and mitochondrion. Human ortholog(s) of this gene implicated in infantile cerebellar-retinal degeneration and optic atrophy 9. Is expressed in several structures, including adaxial cell; heart tube; musculature system; nervous system; and pronephric duct. Orthologous to human ACO2 (aconitase 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aco2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
infantile cerebellar-retinal degeneration Alliance Infantile cerebellar-retinal degeneration 614559
optic atrophy 9 Alliance ?Optic atrophy 9 616289
Associated With aco2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018136 Aconitase family, 4Fe-4S cluster binding site
Domain IPR000573 Aconitase A/isopropylmalate dehydratase small subunit, swivel domain
Domain IPR001030 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain
Family IPR006248 Aconitase, mitochondrial-like
Homologous_superfamily IPR015928 Aconitase/3-isopropylmalate dehydratase, swivel
Homologous_superfamily IPR015931 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3
Homologous_superfamily IPR015932 Aconitase, domain 2
Homologous_superfamily IPR036008 Aconitase, iron-sulfur domain
Domain Details Per Protein
Protein Length Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 Aconitase/3-isopropylmalate dehydratase, swivel Aconitase A/isopropylmalate dehydratase small subunit, swivel domain Aconitase, domain 2 Aconitase family, 4Fe-4S cluster binding site Aconitase, iron-sulfur domain Aconitase, mitochondrial-like
UniProtKB:Q6PEI6 782
UniProtKB:F8W4M7 790
UniProtKB:A0A2R8RID5 782
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations