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 gen... See more...

Aliases for COX20 Gene

Aliases for COX20 Gene

  • Cytochrome C Oxidase Assembly Factor COX20 2 3 5
  • Cytochrome C Oxidase Assembly Protein COX20, Mitochondrial 3 4
  • Family With Sequence Similarity 36, Member A 2 3
  • COX20, Cytochrome C Oxidase Assembly Factor 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 (Cytochrome C Oxidase Assembly Factor COX20) is a Protein Coding gene. Diseases associated with COX20 include Mitochondrial Complex Iv Deficiency and Hypotonia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression.

UniProtKB/Swiss-Prot Summary for COX20 Gene

  • Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053).

Additional gene information for COX20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX20 Gene

Genomics for COX20 Gene

GeneHancer (GH) Regulatory Elements for COX20 Gene

Promoters and enhancers for COX20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX20

Genomic Locations for COX20 Gene

Genomic Locations for COX20 Gene
chr1:244,835,337-244,845,057
(GRCh38/hg38)
Size:
9,721 bases
Orientation:
Plus strand
chr1:244,998,624-245,008,359
(GRCh37/hg19)
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 assembly protein COX20, mitochondrial
    Protein Accession:
    Q5RI15
    Secondary Accessions:
    • Q8WV86

    Protein attributes for COX20 Gene

    Size:
    118 amino acids
    Molecular mass:
    13291 Da
    Quaternary structure:
    • Found in a complex with TMEM177, COA6, MT-CO2/COX2, COX18, SCO1 and SCO2. Interacts with SCO1, SCO2 and COA6 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX18 in a MT-CO2/COX2-dependent manner (PubMed:28330871). Interacts with MT-CO2/COX2 (PubMed:29154948, PubMed:24403053, PubMed:23125284, PubMed:28330871). Interacts with TMEM177 (PubMed:29154948).

    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

Gene Families for COX20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for COX20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX20 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43269 fis, clone KIDNE2000665, highly similar to Protein FAM36A (B3KM21_HUMAN)
  • cDNA FLJ50874 (B4DUR4_HUMAN)
  • Protein FAM36A (FA36A_HUMAN)

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

Molecular function for COX20 Gene

UniProtKB/Swiss-Prot Function:
Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053).

Phenotypes From GWAS Catalog for COX20 Gene

Gene Ontology (GO) - Molecular Function for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23125284
genes like me logo Genes that share ontologies with COX20: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX20

No data available for Enzyme Numbers (IUBMB) , 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 inner 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
nucleus 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA --
GO:0005743 mitochondrial inner membrane IDA,IEA 23125284
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 IEA --
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA,IMP 23125284
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

mRNA/cDNA for COX20 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX20

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

No ASD Table

Relevant External Links for COX20 Gene

GeneLoc Exon Structure for
COX20

Expression for COX20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for COX20 Gene



Protein tissue co-expression partners for COX20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX20 30
  • 88.18 (n)
FAM36A 31
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX20 30
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Cox20 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Cox20 17 31 30
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX20 31
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COX20 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX20 31 30
  • 69.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX20 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497666 30
  • 63.78 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:92598 30
  • 57 (n)
COX20 31
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(3)87Df 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COX20: view image

Paralogs for COX20 Gene

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

  • COX20_HUMAN

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX20 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
673679 Likely Benign: not provided 244,842,507(+) C/T INTRON_VARIANT
683598 Benign: not provided 244,841,783(+) G/C INTRON_VARIANT
683599 Benign: not provided 244,842,411(+) A/C INTRON_VARIANT
683601 Benign: not provided 244,842,526(+) C/T INTRON_VARIANT
683603 Benign: not provided 244,842,539(+) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for COX20 Gene

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)

Additional Variant Information for COX20 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for COX20 Gene

MalaCards: The human disease database

(9) MalaCards diseases for COX20 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COX20 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX20_HUMAN
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:23125284, ECO:0000269 PubMed:24202787, ECO:0000269 PubMed:29154948}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COX20

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

No data available for Genatlas for COX20 Gene

Publications for COX20 Gene

  1. 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 LP (Human molecular genetics 2013) 2 3 4 54
  2. 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 MA (Genome biology 2012) 2 3 4 54
  3. The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. (PMID: 29154948) Lorenzi I … Rehling P (Biochimica et biophysica acta. Molecular cell research 2018) 3 4 54
  4. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. (PMID: 28330871) Bourens M … Barrientos A (The Journal of biological chemistry 2017) 3 4 54
  5. Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. (PMID: 24202787) Doss S … Klein C (Journal of neurology 2014) 3 4 54

Products for COX20 Gene

Sources for COX20 Gene