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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
  • Cytochrome C Oxidase Protein 20 Homolog 3
  • 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 Mitochondrial Complex Iv Deficiency and Hypotonia. Among its related pathways are Gene Expression and TP53 Regulates Metabolic Genes.

No data available for CIViC 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

Regulatory Elements for COX20 Gene

Enhancers for COX20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G244832 1.5 ENCODE dbSUPER 34 +0.3 277 6.4 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 COX20 ADSS HNRNPU
GH01G244860 1.7 Ensembl ENCODE dbSUPER 26.5 +28.2 28248 6.7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF548 ZNF263 SP3 NFYC COX20 ADSS HNRNPU
GH01G244046 2.8 FANTOM5 ENCODE dbSUPER 15.2 -785.6 -785628 7.4 HDGF PKNOX1 CREB3L1 MLX ARNT SIN3A DMAP1 FEZF1 ZNF2 YY1 ZBTB18 ENSG00000236031 COX20 ENSG00000227230 LOC101928068 ADSS AKT3 LOC440742
GH01G244056 1.9 dbSUPER 14.2 -774.7 -774654 7.8 PKNOX1 ZBTB40 ZNF766 ZNF366 FOS CREM CEBPB ELF1 TBX21 ZNF589 COX20 ENSG00000236031 LOC101928068 LOC440742 ZBTB18
GH01G244298 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -533.7 -533742 6.2 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZBTB7B YY1 ZNF766 CBX5 LOC101928068 COX20 ENSG00000236031 ADSS AKT3 LOC105373262 GC01M244263
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX20 on UCSC Golden Path with GeneCards custom track

Promoters for COX20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022952 -22 3801 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3

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

Post-translational modifications for COX20 Gene

  • Ubiquitination at Lys98
  • 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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX20 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with COX20: view

Pathways & Interactions for COX20 Gene

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

Gene Ontology (GO) - Biological Process for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009060 aerobic respiration IBA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA --
genes like me logo Genes that share ontologies with COX20: view

No data available for SIGNOR curated interactions for COX20 Gene

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for COX20 Gene



Protein tissue co-expression partners for COX20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX20 Gene:

COX20

SOURCE GeneReport for Unigene cluster for COX20 Gene:

Hs.411490

Evidence on tissue expression from TISSUES for COX20 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with COX20: view

Primer 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 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia COX20 34
  • 88.18 (n)
FAM36A 35
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX20 34
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Cox20 34
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Cox20 34 16 35
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX20 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX20 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX20 34 35
  • 69.61 (n)
lizard
(Anolis carolinensis)
Reptilia COX20 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497666 34
  • 63.78 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:92598 34
  • 57 (n)
COX20 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(3)87Df 35
  • 37 (a)
OneToOne
Species where no ortholog for COX20 was found in the sources mined by GeneCards:
  • 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
rs587777004 Pathogenic 244,842,055(+) TGTTC(A/C)CTAGT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs147700538 Likely pathogenic 244,842,234(+) AGGGT(G/T)TATCT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs373824502 Likely pathogenic 244,841,992(+) GCGCC(A/C/T)GGCAT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, missense
rs185166083 Uncertain significance 244,842,242(+) TCTTG(A/G)TGACT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs373502901 Uncertain significance 244,843,138(+) ACCTC(A/C/G/T)ATCCT nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COX20 Gene

Variant ID Type Subtype PubMed ID
esv2669232 CNV deletion 23128226
esv2726684 CNV deletion 23290073
nsv549493 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
COX20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX20 Gene

Disorders for COX20 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COX20 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
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 64
  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 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. 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 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for COX20 Gene

Sources for COX20 Gene

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