COA6 (cytochrome c oxidase assembly factor 6)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388753
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COA6
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf31, CEMCOX4, MC4DN13
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC4DN13
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be asso
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT031801 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005507 Function Copper ion binding IDA 26160915
GO:0005515 Function Protein binding IPI 25959673, 26160915, 28330871, 29154948, 29381136, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614772 18025 ENSG00000168275
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5JTJ3
Protein name Cytochrome c oxidase assembly factor 6 homolog
Protein function Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of th
PDB 6NL3 , 6PCE , 6PCF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02297 COX6B 47 → 113 Cytochrome oxidase c subunit VIb Domain
Sequence 
MGPGGPLLSPSRGFLLCKTGWHSNRLLGDCGPHTPVSTALSFIAVGMAAPSMKERQVCWG
ARDEYWKCLDENLEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSE
TTAKS
Sequence length 125
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Thermogenesis  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Cardioencephalomyopathy Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 rs74315510, rs80358232, rs74315511, rs74315512, rs1467767014, rs28937868, rs121908508, rs28939711, rs387907099, rs1558123786, rs875989827, rs749838192, rs782349178, rs149718203, rs1603441682 25339201, 24549041, 22277967, 25959673
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
Left ventricular noncompaction Left ventricular noncompaction rs121913654, rs730880850, rs386134243, rs397515482, rs138110910, rs730880336, rs730880856, rs794729390, rs886037900, rs1114167338, rs1555338658
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 36982777
Carcinoma Hepatocellular Associate 37215201
Carcinoma Pancreatic Ductal Associate 40596639
Cardiomyopathies Associate 28330871
Cytochrome c Oxidase Deficiency Associate 31515291
Mitochondrial Diseases Associate 26669719, 31515291
Neoplasms Associate 37215201
Ovarian Diseases Associate 39754905
Pancreatic Neoplasms Stimulate 40596639