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ACO2 aconitase 2 [ Homo sapiens (human) ]

Gene ID: 50, updated on 11-Sep-2019

Summary

Official Symbol
ACO2provided by HGNC
Official Full Name
aconitase 2provided by HGNC
Primary source
HGNC:HGNC:118
See related
Ensembl:ENSG00000100412 MIM:100850
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

Genomic context

See ACO2 in Genome Data Viewer
Location:
22q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41468756..41528979)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41865099..41924993)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373043 Neighboring gene transducer of ERBB2, 2 Neighboring gene PHD finger protein 5A Neighboring gene Sharpr-MPRA regulatory region 731 Neighboring gene RNA polymerase III subunit H Neighboring gene uncharacterized LOC105373044 Neighboring gene cold shock domain containing C2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20605, MGC33908

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aconitate hydratase activity EXP
Inferred from Experiment
more info
PubMed 
aconitate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
citrate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
isocitrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
response to isolation stress IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tricarboxylic acid cycle IDA
Inferred from Direct Assay
more info
PubMed 
tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
aconitate hydratase, mitochondrial
Names
aconitase 2, mitochondrial
citrate hydro-lyase
epididymis secretory sperm binding protein Li 284
mitochondrial aconitase
NP_001089.1
XP_016884301.1
XP_024308018.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_032143.1 RefSeqGene

    Range
    4993..64850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098.3NP_001089.1  aconitate hydratase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001089.1

    Status: REVIEWED

    Source sequence(s)
    AL008582, BC014092, BC026196
    Consensus CDS
    CCDS14017.1
    UniProtKB/Swiss-Prot
    Q99798
    Related
    ENSP00000216254.4, ENST00000216254.9
    Conserved Domains (1) summary
    cl28376
    Location:45775
    AcnA; Aconitase A [Energy production and conversion]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    41468756..41528979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452250.1XP_024308018.1  aconitate hydratase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl28376
    Location:45775
    AcnA; Aconitase A [Energy production and conversion]
  2. XM_017028812.1XP_016884301.1  aconitate hydratase, mitochondrial isoform X2

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