Details for: ACO2

Gene ID: 50

Symbol: ACO2

Ensembl ID: ENSG00000100412

Description: aconitase 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.04
    Marker Score: 67972
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.1
    Marker Score: 10075
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.02
    Marker Score: 5403
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.01
    Marker Score: 6322
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.95
    Marker Score: 2064
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.91
    Marker Score: 3169
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.87
    Marker Score: 2888
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.86
    Marker Score: 1082
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.85
    Marker Score: 3896
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.82
    Marker Score: 38911
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.77
    Marker Score: 65128
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.74
    Marker Score: 6173
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.74
    Marker Score: 6180.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.66
    Marker Score: 6514
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.66
    Marker Score: 4178
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.65
    Marker Score: 17046
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.62
    Marker Score: 6789
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.62
    Marker Score: 3545.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.6
    Marker Score: 2358
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.57
    Marker Score: 6526
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.57
    Marker Score: 96468
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.55
    Marker Score: 2064
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.53
    Marker Score: 14388
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.53
    Marker Score: 761
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.52
    Marker Score: 3591
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.51
    Marker Score: 731
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.5
    Marker Score: 3562
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.47
    Marker Score: 12624
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.47
    Marker Score: 13950
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.43
    Marker Score: 1791
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.42
    Marker Score: 2191
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.39
    Marker Score: 928
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.39
    Marker Score: 5366
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.38
    Marker Score: 580
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.38
    Marker Score: 27537
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.37
    Marker Score: 1843
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.36
    Marker Score: 716
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.36
    Marker Score: 2754
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.35
    Marker Score: 5514
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.35
    Marker Score: 15698
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.34
    Marker Score: 1158
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.33
    Marker Score: 1611
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.33
    Marker Score: 50405
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.33
    Marker Score: 1878
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.32
    Marker Score: 4552
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.32
    Marker Score: 3014
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.32
    Marker Score: 11433
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.31
    Marker Score: 9751
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.31
    Marker Score: 19543
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.29
    Marker Score: 303
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.29
    Marker Score: 4776
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.28
    Marker Score: 422
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.27
    Marker Score: 3781
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.27
    Marker Score: 19935
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.26
    Marker Score: 2636
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.26
    Marker Score: 692
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.25
    Marker Score: 1381
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.25
    Marker Score: 310
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.25
    Marker Score: 10762
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.25
    Marker Score: 1318
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.24
    Marker Score: 954
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.23
    Marker Score: 690
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.23
    Marker Score: 1133.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.23
    Marker Score: 1294
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.22
    Marker Score: 817
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.22
    Marker Score: 2988
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.21
    Marker Score: 383
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.21
    Marker Score: 1206
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.21
    Marker Score: 820
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.19
    Marker Score: 1442
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.19
    Marker Score: 1339
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.19
    Marker Score: 1199
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.19
    Marker Score: 564
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.18
    Marker Score: 341
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.18
    Marker Score: 623
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.18
    Marker Score: 9047
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.18
    Marker Score: 1109
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.17
    Marker Score: 321
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.16
    Marker Score: 1503
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.16
    Marker Score: 2206
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.16
    Marker Score: 328
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.16
    Marker Score: 1248
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.15
    Marker Score: 433
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.15
    Marker Score: 717
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.15
    Marker Score: 783
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.14
    Marker Score: 1336
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.14
    Marker Score: 1159
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.14
    Marker Score: 4917
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.14
    Marker Score: 39346
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.13
    Marker Score: 462.5
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.13
    Marker Score: 2820
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.12
    Marker Score: 7175
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.12
    Marker Score: 4601
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.11
    Marker Score: 450
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.11
    Marker Score: 518
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.11
    Marker Score: 1591
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.11
    Marker Score: 3011
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.11
    Marker Score: 264
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.1
    Marker Score: 1057
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.1
    Marker Score: 1140

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Other Information

## Summary ACOI2 (also known as ACO) is a protein involved in the citric acid (TCA) cycle and respiratory electron transport in the mitochondria of eukaryotic cells. It is a key enzyme in the TCA cycle, catalyzing the hydration of aconitate to pyruvate. The enzyme is also involved in the production of precursors for energy metabolism, and is therefore essential for the maintenance of cellular energy production. ## Key characteristics * ACOT2 is a glycoprotein with a molecular weight of approximately 120 kDa. * It is found in the mitochondria of eukaryotic cells. * It is a key enzyme in the TCA cycle and respiratory electron transport. * It is also involved in the production of precursors for energy metabolism. ## Pathways and functions * The TCA cycle is a series of metabolic reactions that break down pyruvate to produce energy. * ACOT2 is one of the enzymes that catalyzes the hydration of aconitate to pyruvate in the TCA cycle. * The product of the TCA cycle, pyruvate, is then used in the citric acid cycle and the electron transport chain to generate energy for the cell. * ACOT2 is also involved in the production of precursors for energy metabolism, including oxaloacetate, which is a key intermediate in the TCA cycle. ## Clinical significance ACOI2 gene mutations have been linked to a number of human diseases, including pyruvateuria, lactic acidosis, and mitochondrial dysfunction. These diseases are caused by mutations in genes that encode proteins involved in the TCA cycle and respiratory electron transport. Treatment for these diseases typically involves the use of drugs that target the TCA cycle or the electron transport chain.

Genular Protein ID: 715434560

Symbol: ACON_HUMAN

Name: Aconitate hydratase, mitochondrial

UniProtKB Accession Codes:

Q99798 O75809 Q5JZ41 Q6FHX0 Q8TAQ6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CPTAC 1 CTD 1 CarbonylDB 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DOSAC-COBS-2DPAGE 1 DisGeNET 1 DrugBank 5 EC 1 EMBL 21 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 3 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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. For the full schema, download it here.