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Aliases for COX20 Gene

Aliases for COX20 Gene

  • COX20 Cytochrome C Oxidase Assembly Factor 2 3
  • FAM36A 3 4 6
  • Family With Sequence Similarity 36, Member A 2 3
  • COX20 Cox2 Chaperone Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Protein 20 Homolog 3
  • COX20 Cox2 Chaperone Homolog 3
  • Protein FAM36A 3

External Ids for COX20 Gene

Previous HGNC Symbols for COX20 Gene

  • FAM36A

Previous GeneCards Identifiers for COX20 Gene

  • GC01P245000

Summaries for COX20 Gene

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.

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

Genomics for COX20 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COX20 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX20 Gene

No data available for Regulatory Elements 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 Lys98
  • Modification sites at PhosphoSitePlus

Other Protein References for COX20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX20 Gene

Domains for COX20 Gene

Gene Families for COX20 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for COX20 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5RI15

UniProtKB/Swiss-Prot:

COX20_HUMAN :
  • Q5RI15
Family:
  • Belongs to the COX20 family.
genes like me logo Genes that share domains with COX20: view

No data available for Suggested Antigen Peptide Sequences for COX20 Gene

Function for COX20 Gene

Animal Model Products

CRISPR Products

miRNA for COX20 Gene

miRTarBase miRNAs that target COX20

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COX20

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with COX20: view

No data available for Subcellular locations from COMPARTMENTS for COX20 Gene

Pathways for COX20 Gene

SuperPathways for COX20 Gene

No Data Available

Interacting Proteins for COX20 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000406327%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000406327 for COX20 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for COX20 Gene

None

No data available for Pathways by source for COX20 Gene

Transcripts for COX20 Gene

Unigene Clusters for COX20 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COX20

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COX20 Gene

SOURCE GeneReport for Unigene cluster for COX20 Gene Hs.411490

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

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
chimpanzee
(Pan troglodytes)
Mammalia COX20 35
  • 99.37 (n)
  • 98.1 (a)
COX20 36
  • 88 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia COX20 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COX20 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox20 35
  • 83.33 (n)
  • 83.02 (a)
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 COX20 36
  • 56 (a)
OneToOne
zgc:92598 35
  • 57 (n)
  • 60 (a)
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

Selected 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 MAF
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

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

MalaCards: The human disease database. (2) Diseases for COX20 Gene including...

Search for COX20 Gene in MalaCards »

(1) OMIM Diseases for COX20 Gene (614698)

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

No data available for UniProtKB/Swiss-Prot 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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. 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
  5. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. (PMID: 24202787) Doss S. … Klein C. (J. Neurol. 2014) 3

Products for COX20 Gene

Sources for COX20 Gene

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