Details for: COQ2

Gene ID: 27235

Symbol: COQ2

Ensembl ID: ENSG00000173085

Description: coenzyme Q2, polyprenyltransferase

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: 122.3438
    Cell Significance Index: -19.0300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 80.5067
    Cell Significance Index: -20.4200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 69.0379
    Cell Significance Index: -28.4400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 47.7630
    Cell Significance Index: -22.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.5654
    Cell Significance Index: -17.2900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 40.4949
    Cell Significance Index: -20.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.1934
    Cell Significance Index: -17.3700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.0704
    Cell Significance Index: -22.2800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.5107
    Cell Significance Index: -20.1200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.7627
    Cell Significance Index: -22.7400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.8322
    Cell Significance Index: -4.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0642
    Cell Significance Index: 63.8900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9982
    Cell Significance Index: 901.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7815
    Cell Significance Index: 127.1100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4447
    Cell Significance Index: 30.7600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4394
    Cell Significance Index: 6.0000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3453
    Cell Significance Index: 7.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3447
    Cell Significance Index: 16.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2875
    Cell Significance Index: 39.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2669
    Cell Significance Index: 184.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2383
    Cell Significance Index: 12.3800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2381
    Cell Significance Index: 6.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1975
    Cell Significance Index: 12.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1920
    Cell Significance Index: 104.8300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1850
    Cell Significance Index: 36.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1460
    Cell Significance Index: 14.4400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1457
    Cell Significance Index: 26.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1433
    Cell Significance Index: 63.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1357
    Cell Significance Index: 3.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1119
    Cell Significance Index: 5.0700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1080
    Cell Significance Index: 7.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0878
    Cell Significance Index: 10.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0807
    Cell Significance Index: 16.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0788
    Cell Significance Index: 15.0000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0693
    Cell Significance Index: 8.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0343
    Cell Significance Index: 1.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0240
    Cell Significance Index: 3.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0169
    Cell Significance Index: 6.0500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0153
    Cell Significance Index: 0.8600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0148
    Cell Significance Index: 0.5200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0061
    Cell Significance Index: 0.1300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0043
    Cell Significance Index: -0.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0087
    Cell Significance Index: -0.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0094
    Cell Significance Index: -1.3700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0102
    Cell Significance Index: -19.1800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0135
    Cell Significance Index: -9.9100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0190
    Cell Significance Index: -14.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0225
    Cell Significance Index: -41.5700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0236
    Cell Significance Index: -2.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0237
    Cell Significance Index: -15.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0262
    Cell Significance Index: -40.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0317
    Cell Significance Index: -43.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0332
    Cell Significance Index: -3.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0335
    Cell Significance Index: -24.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0444
    Cell Significance Index: -25.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0464
    Cell Significance Index: -21.0400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0491
    Cell Significance Index: -14.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0721
    Cell Significance Index: -45.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0735
    Cell Significance Index: -2.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0781
    Cell Significance Index: -2.0900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0830
    Cell Significance Index: -9.6700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0830
    Cell Significance Index: -14.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0830
    Cell Significance Index: -2.3200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0860
    Cell Significance Index: -2.2100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0921
    Cell Significance Index: -2.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0966
    Cell Significance Index: -7.4200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0998
    Cell Significance Index: -1.6700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1033
    Cell Significance Index: -3.5900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1113
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1367
    Cell Significance Index: -28.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1381
    Cell Significance Index: -10.2900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1548
    Cell Significance Index: -2.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1676
    Cell Significance Index: -4.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1800
    Cell Significance Index: -20.6200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1813
    Cell Significance Index: -8.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2196
    Cell Significance Index: -22.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2283
    Cell Significance Index: -18.0800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2352
    Cell Significance Index: -6.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2410
    Cell Significance Index: -14.8100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2454
    Cell Significance Index: -3.4400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2617
    Cell Significance Index: -5.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2677
    Cell Significance Index: -16.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2943
    Cell Significance Index: -15.3300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2958
    Cell Significance Index: -3.3600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3010
    Cell Significance Index: -6.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3092
    Cell Significance Index: -20.7900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3229
    Cell Significance Index: -3.5100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3385
    Cell Significance Index: -9.9400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3550
    Cell Significance Index: -3.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3682
    Cell Significance Index: -19.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3694
    Cell Significance Index: -9.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3949
    Cell Significance Index: -19.9600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4006
    Cell Significance Index: -16.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4060
    Cell Significance Index: -17.9600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4458
    Cell Significance Index: -13.1300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4546
    Cell Significance Index: -6.8500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4761
    Cell Significance Index: -18.0300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5315
    Cell Significance Index: -19.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5512
    Cell Significance Index: -19.3100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5528
    Cell Significance Index: -10.7900

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:** COQ2 is a polyprenyltransferase enzyme that catalyzes the transfer of isoprenyl groups to 4-hydroxybenzoate, resulting in the synthesis of ubiquinone. This enzyme is distinct from other ubiquinone biosynthetic enzymes, such as COQ1, which catalyzes the condensation of 4-hydroxybenzoate with ubiquinone. COQ2 is characterized by its ability to transfer isoprenyl groups to 4-hydroxybenzoate, resulting in the formation of a 4-hydroxybenzoate decaprenyl or nonaprenyl intermediate. **Pathways and Functions:** COQ2 is involved in the biosynthesis of ubiquinone, a critical component of the mitochondrial electron transport chain. The enzyme catalyzes the transfer of isoprenyl groups to 4-hydroxybenzoate, resulting in the formation of a ubiquinone precursor. This precursor is then converted into ubiquinone through a series of enzymatic reactions. COQ2 is also involved in the regulation of mitochondrial function and metabolism, particularly in the context of energy production. The enzyme is also implicated in the regulation of cellular metabolism, including glycerol metabolism and the isoprenoid biosynthetic process. COQ2 is expressed in various cell types, including immune cells, suggesting its involvement in the regulation of immune cell function and metabolism. **Clinical Significance:** Dysregulation of COQ2 has been implicated in various diseases, including neurodegenerative disorders, such as Parkinson's disease and Alzheimer's disease. These diseases are characterized by impaired mitochondrial function and energy metabolism, which can be attributed to the dysfunction of COQ2. Furthermore, COQ2 has been implicated in the regulation of immune cell function and metabolism, particularly in the context of cancer. Dysregulation of COQ2 has been observed in various types of cancer, including leukemia and lymphoma, suggesting its potential as a therapeutic target. In conclusion, COQ2 is a polyprenyltransferase enzyme that plays a critical role in the regulation of mitochondrial function and metabolism. Its dysregulation has been implicated in various diseases, including neurodegenerative disorders and cancer. Further studies are necessary to elucidate the mechanisms by which COQ2 regulates cellular metabolism and to explore its potential as a therapeutic target. **Implications for Immunology:** The dysregulation of COQ2 has significant implications for immunology, particularly in the context of cancer and neurodegenerative disorders. COQ2 is expressed in various immune cells, including T cells and macrophages, suggesting its involvement in the regulation of immune cell function and metabolism. Dysregulation of COQ2 has been observed in various types of cancer, including leukemia and lymphoma, suggesting its potential as a therapeutic target. Furthermore, COQ2 has been implicated in the regulation of mitochondrial function and energy metabolism, which is critical for the proper functioning of immune cells. In conclusion, COQ2 is a critical enzyme that plays a pivotal role in the regulation of mitochondrial function and metabolism. Its dysregulation has significant implications for immunology, particularly in the context of cancer and neurodegenerative disorders. Further studies are necessary to elucidate the mechanisms by which COQ2 regulates cellular metabolism and to explore its potential as a therapeutic target.

Genular Protein ID: 1468752058

Symbol: COQ2_HUMAN

Name: COQ2 homolog

UniProtKB Accession Codes:

Q96H96 A0A1D8H0A6 O95331 Q1JQ78 Q684R2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 13 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 3 EMBL 8 Ensembl 3 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OpenTargets 1 Orphanet 2 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 Rhea 8 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15153069

Title: Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ2.

PubMed ID: 15153069

DOI: 10.1042/bj20040261

PubMed ID: 27493029

Title: The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

PubMed ID: 27493029

DOI: 10.1093/hmg/ddw257

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 17374725

Title: Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

PubMed ID: 17374725

DOI: 10.1093/hmg/ddm058

PubMed ID: 20526342

Title: 4-Nitrobenzoate inhibits coenzyme Q biosynthesis in mammalian cell cultures.

PubMed ID: 20526342

DOI: 10.1038/nchembio.372

PubMed ID: 16400613

Title: A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

PubMed ID: 16400613

DOI: 10.1086/500092

PubMed ID: 17855635

Title: COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

PubMed ID: 17855635

DOI: 10.1681/asn.2006080833

PubMed ID: 23343605

Title: A novel mutation in COQ2 leading to fatal infantile multisystem disease.

PubMed ID: 23343605

DOI: 10.1016/j.jns.2013.01.004

PubMed ID: 23758206

Title: Mutations in COQ2 in familial and sporadic multiple-system atrophy.

PubMed ID: 23758206

DOI: 10.1056/nejmoa1212115

PubMed ID: 25564041

Title: Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

PubMed ID: 25564041

DOI: 10.1038/ejhg.2014.277

PubMed ID: 28044327

Title: Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

PubMed ID: 28044327

DOI: 10.1111/cge.12960

PubMed ID: 33215859

Title: Clinical spectrum in multiple families with primary COQ10 deficiency.

PubMed ID: 33215859

DOI: 10.1002/ajmg.a.61983

Sequence Information:

  • Length: 371
  • Mass: 40475
  • Checksum: 8BCE473A1D0C60CB
  • Sequence:
    • MLGSRAAGFA RGLRAVALAW LPGWRGRSFA LARAAGAPHG GDLQPPACPE PRGRQLSLSA 
AAVVDSAPRP LQPYLRLMRL DKPIGTWLLY LPCTWSIGLA AEPGCFPDWY MLSLFGTGAI 
LMRGAGCTIN DMWDQDYDKK VTRTANRPIA AGDISTFQSF VFLGGQLTLA LGVLLCLNYY 
SIALGAGSLL LVITYPLMKR ISYWPQLALG LTFNWGALLG WSAIKGSCDP SVCLPLYFSG 
VMWTLIYDTI YAHQDKRDDV LIGLKSTALR FGENTKPWLS GFSVAMLGAL SLVGVNSGQT 
APYYAALGAV GAHLTHQIYT LDIHRPEDCW NKFISNRTLG LIVFLGIVLG NLWKEKKTDK 
TKKGIENKIE N

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.