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Gene : ACO2 Homo sapiens

Name  ? aconitase 2 Cytological Location  22q13.2
Brief Description  aconitase 2
description  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]
  • synonyms:
  • OCA8,
  • aconitase 2, mitochondrial,
  • HGNC:118,
  • uc003bac.3,
  • ACONM,
  • aconitate hydratase, mitochondrial,
  • OPA9,
  • HEL-S-284,
  • AH006514,
  • ACO2,
  • ICRD,
  • OTTHUMG00000030544,
  • mitochondrial aconitase,
  • NM_001098,
  • ACONM
  • identifiers:
  • 50,
  • ENSG00000100412,
  • ACO2

Genome feature

Region: gene ? Length: 60234  
Location: 22:41468756-41528989 Cyto location: 22q13.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

2011 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results