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Aliases for COX20 Gene

Aliases for COX20 Gene

  • COX20 Cytochrome C Oxidase Assembly Factor 2 3 5
  • Family With Sequence Similarity 36, Member A 2 3
  • FAM36A 3 4
  • COX20 Cox2 Chaperone Homolog (S. Cerevisiae) 2
  • COX20 Cox2 Chaperone Homolog 3

External Ids for COX20 Gene

Previous HGNC Symbols for COX20 Gene

  • FAM36A

Previous GeneCards Identifiers for COX20 Gene

  • GC01P245000

Summaries for COX20 Gene

Entrez Gene Summary for COX20 Gene

  • 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]

GeneCards Summary for COX20 Gene

COX20 (COX20 Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX20 include isolated cytochrome c oxidase deficiency and mitochondrial complex iv deficiency. Among its related pathways are Gene Expression and Metabolism.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX20 Gene

Genomics for COX20 Gene

Regulatory Elements for COX20 Gene

Promoters for COX20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COX20 on UCSC Golden Path with GeneCards custom track

Genomic Location for COX20 Gene

Chromosome:
1
Start:
244,835,322 bp from pter
End:
244,845,057 bp from pter
Size:
9,736 bases
Orientation:
Plus strand

Genomic View for COX20 Gene

Genes around COX20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX20 Gene

Proteins for COX20 Gene

  • Protein details for COX20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5RI15-COX20_HUMAN
    Recommended name:
    Cytochrome c oxidase protein 20 homolog
    Protein Accession:
    Q5RI15
    Secondary Accessions:
    • Q8WV86

    Protein attributes for COX20 Gene

    Size:
    118 amino acids
    Molecular mass:
    13291 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COX20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX20 Gene

Proteomics data for COX20 Gene at MOPED

Post-translational modifications for COX20 Gene

  • Ubiquitination at Lys 98
  • Modification sites at PhosphoSitePlus

Other Protein References for COX20 Gene

No data available for DME Specific Peptides for COX20 Gene

Domains & Families for COX20 Gene

Protein Domains for COX20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX20 Gene

Graphical View of Domain Structure for InterPro Entry

Q5RI15

UniProtKB/Swiss-Prot:

COX20_HUMAN :
  • Belongs to the COX20 family.
Family:
  • Belongs to the COX20 family.
genes like me logo Genes that share domains with COX20: view

Function for COX20 Gene

Phenotypes for COX20 Gene

genes like me logo Genes that share phenotypes with COX20: view

Human Phenotype Ontology for COX20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COX20 Gene

Localization for COX20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX20 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX20 Gene COMPARTMENTS Subcellular localization image for COX20 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with COX20: view

Drugs & Compounds for COX20 Gene

No Compound Related Data Available

Transcripts for COX20 Gene

Unigene Clusters for COX20 Gene

COX20 Cox2 chaperone homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COX20 Gene

No ASD Table

Relevant External Links for COX20 Gene

GeneLoc Exon Structure for
COX20
ECgene alternative splicing isoforms for
COX20

Expression for COX20 Gene

mRNA expression in normal human tissues for COX20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COX20 Gene

This gene is overexpressed in Bone (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for COX20 Gene



SOURCE GeneReport for Unigene cluster for COX20 Gene Hs.411490

genes like me logo Genes that share expression patterns with COX20: view

Protein tissue co-expression partners for COX20 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COX20 Gene

Orthologs for COX20 Gene

This gene was present in the common ancestor of animals.

Orthologs for COX20 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COX20 35
  • 88.18 (n)
  • 83.64 (a)
FAM36A 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX20 35
  • 87.79 (n)
  • 84.16 (a)
mouse
(Mus musculus)
Mammalia Cox20 35
  • 83.02 (n)
  • 82.08 (a)
Cox20 16
Cox20 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COX20 35
  • 99.37 (n)
  • 98.1 (a)
COX20 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox20 35
  • 83.33 (n)
  • 83.02 (a)
oppossum
(Monodelphis domestica)
Mammalia COX20 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX20 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX20 35
  • 69.61 (n)
  • 63.73 (a)
COX20 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX20 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497666 35
  • 63.78 (n)
  • 64.42 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:92598 35
  • 57 (n)
  • 60 (a)
COX20 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(3)87Df 36
  • 37 (a)
OneToOne
Species with no ortholog for COX20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COX20 Gene

ENSEMBL:
Gene Tree for COX20 (if available)
TreeFam:
Gene Tree for COX20 (if available)

Paralogs for COX20 Gene

(1) SIMAP similar genes for COX20 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for COX20 Gene

genes like me logo Genes that share paralogs with COX20: view

No data available for Paralogs for COX20 Gene

Variants for COX20 Gene

Sequence variations from dbSNP and Humsavar for COX20 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1908626 -- 244,836,891(+) TGTCA(A/G)TTTAC intron-variant
rs3737858 -- 244,835,509(+) GACCC(C/G)TTCGA utr-variant-5-prime
rs4412579 -- 244,839,869(+) TGCCA(A/G)CACTT intron-variant
rs10927329 -- 244,834,284(+) GTAGT(C/T)TCTAA upstream-variant-2KB
rs10927330 -- 244,834,651(+) CATAA(A/G)GTTAA upstream-variant-2KB

Variation tolerance for COX20 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX20 Gene

HapMap Linkage Disequilibrium report
COX20
Human Gene Mutation Database (HGMD)
COX20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COX20 Gene

Disorders for COX20 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COX20 Gene - From: OMIM, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
isolated cytochrome c oxidase deficiency
  • isolated cox deficiency
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
hypotonia
- elite association - COSMIC cancer census association via MalaCards
Search COX20 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COX20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX20
genes like me logo Genes that share disorders with COX20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX20 Gene

Publications for COX20 Gene

  1. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R. … Huynen M.A. (Genome Biol. 2012) 2 3 4 67
  2. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. (PMID: 23125284) Szklarczyk R. … van den Heuvel L.P. (Hum. Mol. Genet. 2013) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. (PMID: 24202787) Doss S. … Klein C. (J. Neurol. 2014) 3
  5. Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. (PMID: 24403053) Bourens M. … Barrientos A. (Hum. Mol. Genet. 2014) 3

Products for COX20 Gene

Sources for COX20 Gene

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