Details for: COX6A2

Gene ID: 1339

Symbol: COX6A2

Ensembl ID: ENSG00000156885

Description: cytochrome c oxidase subunit 6A2

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: type I muscle cell (CL0002211)
    Fold Change: 7.8666
    Cell Significance Index: 191.9400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 7.2909
    Cell Significance Index: 117.6400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.2293
    Cell Significance Index: 62.4400
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.2905
    Cell Significance Index: 9.4300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 2.7405
    Cell Significance Index: 80.7200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.8750
    Cell Significance Index: 46.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.3280
    Cell Significance Index: 81.4200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.2058
    Cell Significance Index: 19.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1028
    Cell Significance Index: 35.3200
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.9935
    Cell Significance Index: 7.9400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.9688
    Cell Significance Index: 14.6000
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.7288
    Cell Significance Index: 5.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6881
    Cell Significance Index: 52.8000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.5197
    Cell Significance Index: 7.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5114
    Cell Significance Index: 23.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4515
    Cell Significance Index: 85.9200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.4186
    Cell Significance Index: 4.3700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.3961
    Cell Significance Index: 4.9000
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.3085
    Cell Significance Index: 4.0400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.2734
    Cell Significance Index: 4.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1958
    Cell Significance Index: 19.3700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1887
    Cell Significance Index: 170.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1181
    Cell Significance Index: 7.0900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1153
    Cell Significance Index: 12.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1139
    Cell Significance Index: 18.5300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0850
    Cell Significance Index: 1.2200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0741
    Cell Significance Index: 51.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0634
    Cell Significance Index: 4.3900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0437
    Cell Significance Index: 1.2600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0254
    Cell Significance Index: 7.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0243
    Cell Significance Index: 3.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0170
    Cell Significance Index: 1.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0089
    Cell Significance Index: 0.2300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0087
    Cell Significance Index: 0.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0061
    Cell Significance Index: 2.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0051
    Cell Significance Index: 0.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0009
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0032
    Cell Significance Index: -5.9600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0097
    Cell Significance Index: -7.1900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0113
    Cell Significance Index: -6.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0115
    Cell Significance Index: -7.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0120
    Cell Significance Index: -8.8100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0133
    Cell Significance Index: -10.0900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0134
    Cell Significance Index: -8.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0184
    Cell Significance Index: -3.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0252
    Cell Significance Index: -9.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0258
    Cell Significance Index: -4.4100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0304
    Cell Significance Index: -0.4100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0314
    Cell Significance Index: -0.7800
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0328
    Cell Significance Index: -0.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0400
    Cell Significance Index: -8.0300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0411
    Cell Significance Index: -8.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0422
    Cell Significance Index: -4.3100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0430
    Cell Significance Index: -1.8700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0463
    Cell Significance Index: -0.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0470
    Cell Significance Index: -6.4500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0503
    Cell Significance Index: -9.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0532
    Cell Significance Index: -7.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0540
    Cell Significance Index: -2.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0541
    Cell Significance Index: -2.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0584
    Cell Significance Index: -6.6900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0642
    Cell Significance Index: -8.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0730
    Cell Significance Index: -7.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0736
    Cell Significance Index: -9.0500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0768
    Cell Significance Index: -1.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0914
    Cell Significance Index: -4.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0953
    Cell Significance Index: -1.0800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1047
    Cell Significance Index: -1.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1091
    Cell Significance Index: -6.1200
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: -0.1102
    Cell Significance Index: -1.0500
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.1103
    Cell Significance Index: -1.2700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1165
    Cell Significance Index: -8.6800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1170
    Cell Significance Index: -2.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1179
    Cell Significance Index: -9.3400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1196
    Cell Significance Index: -0.8100
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.1197
    Cell Significance Index: -1.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1252
    Cell Significance Index: -6.5100
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1298
    Cell Significance Index: -0.5700
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: -0.1339
    Cell Significance Index: -1.5400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1401
    Cell Significance Index: -3.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1405
    Cell Significance Index: -9.4500
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.1438
    Cell Significance Index: -1.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1489
    Cell Significance Index: -9.1500
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.1575
    Cell Significance Index: -1.7200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1601
    Cell Significance Index: -2.7600
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.1625
    Cell Significance Index: -1.7400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1721
    Cell Significance Index: -2.3200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1778
    Cell Significance Index: -4.7600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1794
    Cell Significance Index: -1.9500
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.1824
    Cell Significance Index: -2.2000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1892
    Cell Significance Index: -4.8200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1905
    Cell Significance Index: -1.6000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1962
    Cell Significance Index: -5.3400
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1985
    Cell Significance Index: -2.0000
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.2074
    Cell Significance Index: -2.3200
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: -0.2145
    Cell Significance Index: -1.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2158
    Cell Significance Index: -9.5500
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.2237
    Cell Significance Index: -2.6300
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.2371
    Cell Significance Index: -2.6500
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2433
    Cell Significance Index: -2.7900

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** COX6A2 is a mitochondrial protein, specifically a subunit of cytochrome c oxidase, which is the terminal enzyme of the mitochondrial electron transport chain. This enzyme catalyzes the transfer of electrons from cytochrome c to oxygen, resulting in the production of water and ATP. COX6A2 is characterized by its ability to regulate the activity of cytochrome c oxidase, thereby influencing the efficiency of energy production in cells. **Pathways and Functions** COX6A2 is involved in several key pathways, including: 1. **Mitochondrial Electron Transport**: COX6A2 plays a critical role in the electron transport chain, facilitating the transfer of electrons from cytochrome c to oxygen. 2. **Generation of Precursor Metabolites and Energy**: COX6A2 is essential for the production of ATP, which is the primary energy currency of cells. 3. **Enzyme Regulator Activity**: COX6A2 regulates the activity of cytochrome c oxidase, influencing the efficiency of energy production in cells. 4. **Oxidoreductase Activity**: COX6A2 participates in the oxidation of cytochrome c, allowing for the transfer of electrons to oxygen. **Clinical Significance** Dysregulation of COX6A2 has been implicated in various diseases, including: 1. **Cardiovascular Diseases**: Mutations in COX6A2 have been associated with cardiomyopathy and other cardiovascular disorders. 2. **Neurodegenerative Diseases**: Altered expression of COX6A2 has been linked to neurodegenerative diseases, such as Alzheimer's and Parkinson's. 3. **Cancer**: COX6A2 has been implicated in the development and progression of various cancers, including breast, lung, and colon cancer. 4. **Immune System Disorders**: Dysregulation of COX6A2 has been associated with immune system disorders, such as rheumatoid arthritis and multiple sclerosis. In conclusion, COX6A2 is a vital component of the mitochondrial respiratory chain, playing a critical role in energy production and cellular homeostasis. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining human health. Further research is necessary to fully elucidate the role of COX6A2 in human disease and to develop therapeutic strategies targeting this gene.

Genular Protein ID: 3451808827

Symbol: CX6A2_HUMAN

Name: Cytochrome c oxidase subunit 6A2, mitochondrial

UniProtKB Accession Codes:

Q02221 O00761 Q6GTW6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 3 Ensembl 1 GO 5 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 1327966

Title: Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.

PubMed ID: 1327966

DOI: 10.1016/0378-1119(92)90288-z

PubMed ID: 9177785

Title: Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle.

PubMed ID: 9177785

DOI: 10.1006/geno.1997.4687

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: 31155743

Title: COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

PubMed ID: 31155743

DOI: 10.1002/ana.25517

Sequence Information:

  • Length: 97
  • Mass: 10815
  • Checksum: 843AD80319891F1B
  • Sequence:
    • MALPLRPLTR GLASAAKGGH GGAGARTWRL LTFVLALPSV ALCTFNSYLH SGHRPRPEFR 
PYQHLRIRTK PYPWGDGNHT LFHNSHVNPL PTGYEHP

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.