Details for: COQ4

Gene ID: 51117

Symbol: COQ4

Ensembl ID: ENSG00000167113

Description: coenzyme Q4

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: 220.7718
    Cell Significance Index: -34.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 126.5951
    Cell Significance Index: -32.1100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 96.4079
    Cell Significance Index: -39.7200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 84.4785
    Cell Significance Index: -34.3200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 83.7071
    Cell Significance Index: -39.5200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 74.8175
    Cell Significance Index: -38.4900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 59.0592
    Cell Significance Index: -39.6300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.3985
    Cell Significance Index: -37.4800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.2403
    Cell Significance Index: -32.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.7895
    Cell Significance Index: -38.6300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.9795
    Cell Significance Index: -27.5800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.0407
    Cell Significance Index: 1842.6000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7598
    Cell Significance Index: 24.0100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.7596
    Cell Significance Index: 191.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.5290
    Cell Significance Index: 188.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.5282
    Cell Significance Index: 275.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.5212
    Cell Significance Index: 79.0200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1344
    Cell Significance Index: 227.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0611
    Cell Significance Index: 579.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0550
    Cell Significance Index: 49.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.0150
    Cell Significance Index: 63.9700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.0082
    Cell Significance Index: 8.0500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9852
    Cell Significance Index: 69.6800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9412
    Cell Significance Index: 25.6200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9191
    Cell Significance Index: 63.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.8875
    Cell Significance Index: 20.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8836
    Cell Significance Index: 40.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7686
    Cell Significance Index: 21.4800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7486
    Cell Significance Index: 102.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7161
    Cell Significance Index: 316.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6479
    Cell Significance Index: 128.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6198
    Cell Significance Index: 46.1900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5967
    Cell Significance Index: 5.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5932
    Cell Significance Index: 212.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5182
    Cell Significance Index: 358.4000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.5059
    Cell Significance Index: 7.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4794
    Cell Significance Index: 61.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4765
    Cell Significance Index: 25.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3856
    Cell Significance Index: 38.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3241
    Cell Significance Index: 61.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3090
    Cell Significance Index: 50.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3074
    Cell Significance Index: 36.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3000
    Cell Significance Index: 23.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2941
    Cell Significance Index: 10.2200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2613
    Cell Significance Index: 6.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2583
    Cell Significance Index: 33.1100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2202
    Cell Significance Index: 2.6300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1987
    Cell Significance Index: 4.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1932
    Cell Significance Index: 9.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1858
    Cell Significance Index: 4.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1843
    Cell Significance Index: 11.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1386
    Cell Significance Index: 6.1300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1133
    Cell Significance Index: 4.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1083
    Cell Significance Index: 3.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0788
    Cell Significance Index: 4.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0559
    Cell Significance Index: 105.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0533
    Cell Significance Index: 9.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0254
    Cell Significance Index: 46.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0151
    Cell Significance Index: 23.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0141
    Cell Significance Index: 10.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0103
    Cell Significance Index: 0.5800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0085
    Cell Significance Index: 11.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0080
    Cell Significance Index: 0.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0057
    Cell Significance Index: 4.1900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0045
    Cell Significance Index: 2.8300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0028
    Cell Significance Index: -0.0700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0046
    Cell Significance Index: -0.0500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0156
    Cell Significance Index: -1.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0260
    Cell Significance Index: -0.7700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0360
    Cell Significance Index: -26.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0417
    Cell Significance Index: -18.9100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0424
    Cell Significance Index: -4.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0568
    Cell Significance Index: -32.0400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0621
    Cell Significance Index: -1.6700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0673
    Cell Significance Index: -42.0300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0765
    Cell Significance Index: -1.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1133
    Cell Significance Index: -32.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1176
    Cell Significance Index: -13.7100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1514
    Cell Significance Index: -22.0000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1918
    Cell Significance Index: -40.4000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2240
    Cell Significance Index: -25.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2355
    Cell Significance Index: -6.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2684
    Cell Significance Index: -8.6000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2846
    Cell Significance Index: -7.2700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3384
    Cell Significance Index: -35.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3406
    Cell Significance Index: -7.3800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3559
    Cell Significance Index: -28.1900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3654
    Cell Significance Index: -4.6800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3939
    Cell Significance Index: -6.7500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4643
    Cell Significance Index: -6.8600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5406
    Cell Significance Index: -33.1500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5724
    Cell Significance Index: -5.9300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5947
    Cell Significance Index: -16.9700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6026
    Cell Significance Index: -12.7900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.6246
    Cell Significance Index: -14.9800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6503
    Cell Significance Index: -16.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6575
    Cell Significance Index: -34.2500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6864
    Cell Significance Index: -21.8600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6897
    Cell Significance Index: -22.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7353
    Cell Significance Index: -18.9000

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. **COQ4 protein**: The COQ4 protein is a component of the ubiquinone biosynthetic complex, which is essential for the production of ubiquinol, a critical electron carrier in the mitochondrial electron transport chain. 2. **Ubiquinone biosynthesis**: COQ4 is involved in the biosynthesis of ubiquinone, a vital antioxidant that protects cells from oxidative damage and regulates energy metabolism. 3. **Mitochondrial localization**: The COQ4 protein is localized to the mitochondrial inner membrane, suggesting its role in mitochondrial function and energy metabolism. 4. **Significant expression in immune cells**: COQ4 is highly expressed in immune cells, including hematopoietic cells, T cells, and mast cells, highlighting its involvement in immune function and regulation. **Pathways and Functions:** 1. **Metabolism of cofactors**: COQ4 is involved in the metabolism of cofactors, including ubiquinol and ubiquinone, which are essential for energy metabolism and electron transport in mitochondria. 2. **Mitochondrial inner membrane**: The COQ4 protein is localized to the mitochondrial inner membrane, where it participates in the regulation of mitochondrial function and energy metabolism. 3. **Protein binding**: COQ4 has been shown to interact with other proteins, including those involved in ubiquinone biosynthesis, suggesting its involvement in protein-protein interactions and signaling pathways. 4. **Ubiquinol biosynthesis**: COQ4 is essential for the biosynthesis of ubiquinol, a critical electron carrier in the mitochondrial electron transport chain. **Clinical Significance:** 1. **Mitochondrial disorders**: Mutations in the COQ4 gene have been associated with mitochondrial disorders, such as Kearns-Sayre syndrome and MERRF syndrome, highlighting the importance of COQ4 in maintaining mitochondrial function. 2. **Immune system dysfunction**: Dysregulation of COQ4 expression has been linked to immune system dysfunction, including autoimmune diseases and immunodeficiency disorders. 3. **Cancer and aging**: The role of COQ4 in cancer and aging is an area of ongoing research, with evidence suggesting that COQ4 may play a critical role in regulating cellular energy metabolism and modulating immune responses. 4. **Therapeutic potential**: Targeting COQ4 and its upstream regulators may offer therapeutic opportunities for the treatment of mitochondrial disorders, immune system dysfunction, and cancer. In conclusion, COQ4 is a critical gene involved in the regulation of mitochondrial function, energy metabolism, and immune response. Further research is needed to fully elucidate the role of COQ4 in human disease and to explore its therapeutic potential.

Genular Protein ID: 374908434

Symbol: COQ4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y3A0 A8WBK8 B2R958 Q5T4B8 Q96EW4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 1 ExpressionAtlas 1 GO 6 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 18474229

Title: Functional characterization of human COQ4, a gene required for coenzyme Q10 biosynthesis.

PubMed ID: 18474229

DOI: 10.1016/j.bbrc.2008.04.172

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25658047

Title: COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PubMed ID: 25658047

DOI: 10.1016/j.ajhg.2014.12.023

PubMed ID: 26741492

Title: A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

PubMed ID: 26741492

DOI: 10.1371/journal.pgen.1005679

PubMed ID: 30659264

Title: Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.

PubMed ID: 30659264

DOI: 10.1038/s10038-019-0563-y

PubMed ID: 31396399

Title: Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

PubMed ID: 31396399

DOI: 10.1038/s41525-019-0091-x

PubMed ID: 33215859

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

PubMed ID: 33215859

DOI: 10.1002/ajmg.a.61983

PubMed ID: 33704555

Title: New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.

PubMed ID: 33704555

DOI: 10.1007/s00415-021-10509-6

PubMed ID: 36047608

Title: Bi-allelic COQ4 variants cause adult-onset ataxia-spasticity spectrum disease.

PubMed ID: 36047608

DOI: 10.1002/mds.29167

PubMed ID: 38013626

Title: Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

PubMed ID: 38013626

DOI: 10.1111/cns.14529

PubMed ID: 38014483

Title: Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

PubMed ID: 38014483

DOI: 10.1002/mds.29664

Sequence Information:

  • Length: 265
  • Mass: 29657
  • Checksum: BFD161918B2924E2
  • Sequence:
    • MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG LLAAGSAAMA 
LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ ERPRISTSTL DLGKLQSLPE 
GSLGREYLRF LDVNRVSPDT RAPTRFVDDE ELAYVIQRYR EVHDMLHTLL GMPTNILGEI 
VVKWFEAVQT GLPMCILGAF FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR 
WEQSLRALRE ELGITAPPMH VQGLA

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.