Version: 8.0.0
Date: Tue Jan 28 2025
COX20
Homo sapiensHGNC:26970
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

COX20

Species
Homo sapiens
Symbol
COX20
Name
cytochrome c oxidase assembly factor COX20
Synonyms
  • COX20 Cox2 chaperone homolog
  • COX20 cytochrome c oxidase assembly factor
Biotype
protein coding gene
Automated Description
Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 11.
RGD Description
This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR31586
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusCox209 of 10YesYes☑☑☑☑☑☑☑☑☐☑  
Rattus norvegicusCox209 of 10YesYes☑☑☑☑☑☑☑☑☐☑  
Xenopus laeviscox20.L1 of 1YesYes          ☑ 
Xenopus tropicaliscox202 of 9YesYes☐ ☐☐☐☑☐☐☑☐  
Danio reriocox209 of 10YesYes☐ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogasterl(3)87Df7 of 9YesYes☐ ☑☑☑☑☑☑☑☐  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

No paralogs for the gene.

Function - GO Annotations

No function available for that gene

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Ataxia
Autosomal recessive inheritance
Babinski sign
Cerebellar vermis atrophy
Choreoathetosis
Decreased activity of mitochondrial complex IV
Delayed speech and language development
Dilated fourth ventricle
Dysarthria
Elevated circulating creatine kinase concentration
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000001.11:g.244843159G>Avariant
    SNP
    • non coding transcript exon variant
    NC_000001.11:g.244835736G>Avariant
    SNP
    • missense variant
    NC_000001.11:g.244841933T>Cvariant
    SNP
    • non coding transcript exon variant
    NC_000001.11:g.244841961A>Gvariant
    SNP
    • non coding transcript exon variant
    NC_000001.11:g.244835450C>Tvariant
    SNP
    • intron variant
    NC_000001.11:g.244835676C>Gvariant
    SNP
    • 5 prime UTR variant
    NC_000001.11:g.244835677C>Tvariant
    SNP
    • 5 prime UTR variant
    NC_000001.11:g.244835761C>Tvariant
    SNP
    • splice region variant
    NC_000001.11:g.244836499G>Cvariant
    SNP
    • synonymous variant
    NC_000001.11:g.244843138G>Cvariant
    SNP
    • non coding transcript exon variant
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

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    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    48 interactor genes based on 53 annotations
    COX20 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		AQP6Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		C15orf48Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:27499296
    protein
    		C1orf56Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		CEP170Homo sapiens
    protein
    • proximity labelling technology
    		PMID:30021884
    protein
    		CHIAHomo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		COMMD4Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:26186194
    protein
    		COQ9Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:27499296
    protein
    		CREB3L1Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		Dppa3Mus musculus
    protein
    • proximity labelling technology
    		PMID:28712289
    protein
    		DYNC1H1Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
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    Genetic Interactions

    No data available