COX20 (cytochrome c oxidase assembly factor COX20)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116228
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor COX20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COX20
Synonyms (NCBI Gene) Gene synonyms aliases
FAM36A, MC4DN11
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC4DN11
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q44
Summary Summary of gene provided in NCBI Entrez 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 m
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs147700538 T>G Likely-pathogenic Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs373824502 C>A,T Likely-pathogenic Non coding transcript variant, synonymous variant, coding sequence variant, missense variant, intron variant
rs587777004 A>C,G Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs749171144 G>A Likely-pathogenic Splice donor variant, intron variant
rs764620077 G>A Conflicting-interpretations-of-pathogenicity Non coding transcript variant, intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(221)
miRTarBase ID miRNA Experiments Reference
MIRT019839 hsa-miR-375 Microarray 20215506
MIRT643873 hsa-miR-6800-3p HITS-CLIP 23824327
MIRT643872 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT643871 hsa-miR-125b-1-3p HITS-CLIP 23824327
MIRT643870 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23125284, 24403053, 28330871, 29154948, 32296183
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IDA 23125284, 24403053
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614698 26970 ENSG00000203667
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5RI15
Protein name Cytochrome c oxidase assembly protein COX20, mitochondrial
Protein 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, stabili
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12597 DUF3767 10 → 103 Protein of unknown function (DUF3767) Family
Sequence
Sequence length 118
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Thermogenesis   TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Fanconi syndrome Adult Fanconi syndrome rs398124646
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (7)
Unknown
Disease term Disease name Evidence References Source
Cytochrome-c oxidase deficiency Cytochrome-c Oxidase Deficiency 24202787, 27604308, 23125284, 29154948 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 11 GenCC
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 30656193
Atherosclerosis Associate 35177003
Cytochrome c Oxidase Deficiency Associate 28330871
Dysarthria Associate 30656193
Dystonic Disorders Associate 28330871
Glioma Associate 37091853
Hereditary Sensory and Autonomic Neuropathies Associate 30656193
Immunologic Deficiency Syndromes Associate 24403053, 30656193
Muscular Diseases Associate 28330871
Seizures Associate 22678713