aconitase 2

Summary
Gene Symbol
  • ACO2
Aliases
  • ACONM
  • aconitate hydratase, mitochondrial
  • mitochondrial aconitase
Organism
Homo sapiens (human)
External Links
NCBI Gene
50
HGNC
118
KEGG Gene ID
hsa:50
PubChem
50
Alliance of Genome Resources
Annotation
Keyword
  • 4Fe-4S
  • Acetylation
  • Direct protein sequencing
  • Disease variant
  • Lyase
  • Mitochondrion
  • Neurodegeneration
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying 1 entry
UniProt Protein Name
Q99798
  • Citrate hydro-lyase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000100412

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 51 - 60 of 227 in total
DO ID Disease Name Source
DOID:0110485 autosomal recessive nonsyndromic deafness 27
DOID:0110486 autosomal recessive nonsyndromic deafness 28
DOID:0110487 autosomal recessive nonsyndromic deafness 29
DOID:0110488 autosomal recessive nonsyndromic deafness 3
DOID:0110489 autosomal recessive nonsyndromic deafness 30
DOID:0110490 autosomal recessive nonsyndromic deafness 31
DOID:0110491 autosomal recessive nonsyndromic deafness 32
DOID:0110492 autosomal recessive nonsyndromic deafness 33
DOID:0110493 autosomal recessive nonsyndromic deafness 35
DOID:0110494 autosomal recessive nonsyndromic deafness 36
The Human Phenotype Ontology
Displaying entry 31 - 31 of 31 in total
HPO ID HPO Term
HP:0011463 Childhood onset
Displaying all 2 entries
Disease ID Disease Name
OMIM:614559
  • infantile cerebellar-retinal degeneration
OMIM:616289
  • optic atrophy 9

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Acknowledgements

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Last updated: August 19, 2024