Details for: ACO2

Gene ID: 50

Symbol: ACO2

Ensembl ID: ENSG00000100412

Description: aconitase 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 289.0799
    Cell Significance Index: -44.9700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 186.5513
    Cell Significance Index: -47.3200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 123.6565
    Cell Significance Index: -50.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 109.9714
    Cell Significance Index: -51.9200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 106.9027
    Cell Significance Index: -43.4300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 97.3589
    Cell Significance Index: -50.0800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 45.7872
    Cell Significance Index: -43.7200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 40.8165
    Cell Significance Index: -50.3300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.7343
    Cell Significance Index: -42.1500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.3108
    Cell Significance Index: -52.5300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.5120
    Cell Significance Index: -38.4300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.7277
    Cell Significance Index: -21.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 4.9513
    Cell Significance Index: 342.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.8622
    Cell Significance Index: 219.6400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5665
    Cell Significance Index: 1414.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.5228
    Cell Significance Index: 32.9900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3482
    Cell Significance Index: 270.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.1275
    Cell Significance Index: 32.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.1106
    Cell Significance Index: 50.3400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.0777
    Cell Significance Index: 15.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0049
    Cell Significance Index: 52.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.9909
    Cell Significance Index: 24.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9514
    Cell Significance Index: 154.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8381
    Cell Significance Index: 166.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8158
    Cell Significance Index: 292.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8014
    Cell Significance Index: 98.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7941
    Cell Significance Index: 143.1600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7656
    Cell Significance Index: 20.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7387
    Cell Significance Index: 87.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7049
    Cell Significance Index: 37.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6478
    Cell Significance Index: 353.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6026
    Cell Significance Index: 416.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5532
    Cell Significance Index: 14.7700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.5385
    Cell Significance Index: 13.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5375
    Cell Significance Index: 15.0200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5229
    Cell Significance Index: 13.4400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4908
    Cell Significance Index: 22.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4459
    Cell Significance Index: 28.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3886
    Cell Significance Index: 50.2000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3697
    Cell Significance Index: 19.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3061
    Cell Significance Index: 19.7500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2913
    Cell Significance Index: 128.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2812
    Cell Significance Index: 20.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2627
    Cell Significance Index: 36.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2611
    Cell Significance Index: 25.8300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2282
    Cell Significance Index: 2.7200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2058
    Cell Significance Index: 26.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1949
    Cell Significance Index: 37.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1805
    Cell Significance Index: 339.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1710
    Cell Significance Index: 11.5000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1318
    Cell Significance Index: 4.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1024
    Cell Significance Index: 4.5300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0873
    Cell Significance Index: 2.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0768
    Cell Significance Index: 141.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0694
    Cell Significance Index: 31.5200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0513
    Cell Significance Index: 37.6300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0495
    Cell Significance Index: 31.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0415
    Cell Significance Index: 63.8600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0132
    Cell Significance Index: 2.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0028
    Cell Significance Index: -0.2000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0038
    Cell Significance Index: -5.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0190
    Cell Significance Index: -0.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0210
    Cell Significance Index: -0.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0231
    Cell Significance Index: -17.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0277
    Cell Significance Index: -1.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0422
    Cell Significance Index: -4.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0442
    Cell Significance Index: -1.1900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0525
    Cell Significance Index: -0.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0606
    Cell Significance Index: -44.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0784
    Cell Significance Index: -2.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0886
    Cell Significance Index: -49.9600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0965
    Cell Significance Index: -60.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1524
    Cell Significance Index: -17.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1551
    Cell Significance Index: -44.6400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1631
    Cell Significance Index: -4.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1683
    Cell Significance Index: -24.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2178
    Cell Significance Index: -12.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2183
    Cell Significance Index: -2.0100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2333
    Cell Significance Index: -1.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2794
    Cell Significance Index: -58.8400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3084
    Cell Significance Index: -8.8000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3186
    Cell Significance Index: -8.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3240
    Cell Significance Index: -37.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3731
    Cell Significance Index: -38.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3845
    Cell Significance Index: -6.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4357
    Cell Significance Index: -15.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4427
    Cell Significance Index: -6.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4610
    Cell Significance Index: -36.5100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.5516
    Cell Significance Index: -16.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6789
    Cell Significance Index: -14.2100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.7310
    Cell Significance Index: -43.8900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.8187
    Cell Significance Index: -8.4800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.8279
    Cell Significance Index: -6.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8350
    Cell Significance Index: -51.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.8688
    Cell Significance Index: -23.2400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8853
    Cell Significance Index: -18.7900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.9582
    Cell Significance Index: -22.9800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.9869
    Cell Significance Index: -21.6100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -1.0169
    Cell Significance Index: -13.0400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0553
    Cell Significance Index: -30.2500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subcellular localization:** Aconitase 2 is primarily found in the mitochondrial matrix, where it plays a critical role in the TCA cycle. 2. **Iron-dependent activity:** ACO2 requires iron ions to facilitate its enzymatic activity, highlighting the importance of iron homeostasis in this process. 3. **Reversible reaction:** The hydration of aconitate to isocitrate is a reversible reaction, allowing for the regulation of the TCA cycle's flux. 4. **Expression in various cell types:** ACO2 is expressed in multiple cell types, including cardiac myocytes, enterocytes, and kidney epithelial cells, suggesting its importance in various physiological processes. **Pathways and Functions:** 1. **Citric acid cycle (TCA cycle):** Aconitase 2 is a key enzyme in the TCA cycle, which is a crucial metabolic pathway that generates energy for cells through the oxidation of acetyl-CoA. 2. **Iron metabolism:** The iron-dependent activity of ACO2 highlights the importance of iron homeostasis in this pathway. 3. **Energy generation:** The TCA cycle is a primary source of energy for cells, and ACO2 plays a critical role in its progression. 4. **Metabolic regulation:** The reversible reaction catalyzed by ACO2 allows for the regulation of the TCA cycle's flux, enabling cells to adapt to changing energy demands. **Clinical Significance:** 1. **Mitochondrial disorders:** Mutations in the gene encoding ACO2 have been associated with mitochondrial disorders, such as mitochondrial myopathies and encephalopathies. 2. **Metabolic disorders:** Alterations in ACO2 expression or activity may contribute to metabolic disorders, such as diabetes and metabolic syndrome. 3. **Cardiovascular disease:** The expression of ACO2 in cardiac myocytes suggests its potential role in cardiovascular disease, including heart failure and coronary artery disease. 4. **Cancer:** The involvement of ACO2 in energy metabolism and iron homeostasis may contribute to cancer development and progression. In conclusion, Aconitase 2 is a critical enzyme in the citric acid cycle, playing a vital role in energy generation and metabolic regulation. Its expression in various cell types highlights its importance in maintaining cellular homeostasis. Further research is needed to fully elucidate the molecular mechanisms and clinical implications of ACO2, ultimately leading to the development of novel therapeutic strategies for mitochondrial and metabolic disorders.

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 DisGeNET 1 DrugBank 5 EC 1 EMBL 21 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 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 4 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 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. 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.