ACO2 | ENSG00000100412 | NCBI 50

Details for: ACO2

Gene ID: 50

Symbol: ACO2

Ensembl ID: ENSG00000100412

Description: aconitase 2

Associated with

Citric acid cycle (tca cycle)
(R-HSA-71403)
Metabolism
(R-HSA-1430728)
Metabolism of proteins
(R-HSA-392499)
Mitochondrial protein degradation
(R-HSA-9837999)
Mitochondrial protein import
(R-HSA-1268020)
Protein localization
(R-HSA-9609507)
Pyruvate metabolism and citric acid (tca) cycle
(R-HSA-71406)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
3 iron, 4 sulfur cluster binding
(GO:0051538)
4 iron, 4 sulfur cluster binding
(GO:0051539)
Aconitate hydratase activity
(GO:0003994)
Citrate metabolic process
(GO:0006101)
Cytosol
(GO:0005829)
Generation of precursor metabolites and energy
(GO:0006091)
Iron ion binding
(GO:0005506)
Isocitrate metabolic process
(GO:0006102)
Liver development
(GO:0001889)
Mitochondrial matrix
(GO:0005759)
Mitochondrion
(GO:0005739)
Response to isolation stress
(GO:0035900)
Tricarboxylic acid cycle
(GO:0006099)

Other Information

Proteins

Aconitate hydratase, mitochondrial

Genular Protein ID: 715434560

Symbol: ACON_HUMAN

Name: Aconitate hydratase, mitochondrial

UniProtKB Accession Codes:

Q99798 O75809 Q5JZ41 Q6FHX0 Q8TAQ6

Database IDs:

Citations:

PubMed ID: 9630632

Title: Characterization of the human mitochondrial aconitase gene (ACO2).

PubMed ID: 9630632

DOI: 10.1016/s0378-1119(98)00188-7

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1946331

Title: Purification and partial amino acid sequence of human aconitase.

PubMed ID: 1946331

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25351951

Title: Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

PubMed ID: 25351951

DOI: 10.1136/jmedgenet-2014-102532

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 22405087

Title: Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

PubMed ID: 22405087

DOI: 10.1016/j.ajhg.2012.01.009

Sequence Information:

Length: 780
Mass: 85425
Checksum: 58C9FFBDBDC63D5E
Sequence:

MAPYSLLVTR LQKALGVRQY HVASVLCQRA KVAMSHFEPN EYIHYDLLEK NINIVRKRLN 
RPLTLSEKIV YGHLDDPASQ EIERGKSYLR LRPDRVAMQD ATAQMAMLQF ISSGLSKVAV 
PSTIHCDHLI EAQVGGEKDL RRAKDINQEV YNFLATAGAK YGVGFWKPGS GIIHQIILEN 
YAYPGVLLIG TDSHTPNGGG LGGICIGVGG ADAVDVMAGI PWELKCPKVI GVKLTGSLSG 
WSSPKDVILK VAGILTVKGG TGAIVEYHGP GVDSISCTGM ATICNMGAEI GATTSVFPYN 
HRMKKYLSKT GREDIANLAD EFKDHLVPDP GCHYDQLIEI NLSELKPHIN GPFTPDLAHP 
VAEVGKVAEK EGWPLDIRVG LIGSCTNSSY EDMGRSAAVA KQALAHGLKC KSQFTITPGS 
EQIRATIERD GYAQILRDLG GIVLANACGP CIGQWDRKDI KKGEKNTIVT SYNRNFTGRN 
DANPETHAFV TSPEIVTALA IAGTLKFNPE TDYLTGTDGK KFRLEAPDAD ELPKGEFDPG 
QDTYQHPPKD SSGQHVDVSP TSQRLQLLEP FDKWDGKDLE DLQILIKVKG KCTTDHISAA 
GPWLKFRGHL DNISNNLLIG AINIENGKAN SVRNAVTQEF GPVPDTARYY KKHGIRWVVI 
GDENYGEGSS REHAALEPRH LGGRAIITKS FARIHETNLK KQGLLPLTFA DPADYNKIHP 
VDKLTIQGLK DFTPGKPLKC IIKHPNGTQE TILLNHTFNE TQIEWFRAGS ALNRMKELQQ

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACO2

Associated with

Other Information

Characterization of the human mitochondrial aconitase gene (ACO2). PubMed ID: 9630632

A genome annotation-driven approach to cloning the human ORFeome. PubMed ID: 15461802

The DNA sequence of human chromosome 22. PubMed ID: 10591208

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Purification and partial amino acid sequence of human aconitase. PubMed ID: 1946331

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. PubMed ID: 25351951

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. PubMed ID: 22405087