Gene Gene information from NCBI Gene database.
Entrez ID 1340
Gene name Cytochrome c oxidase subunit 6B1
Gene symbol COX6B1
Synonyms (NCBI Gene)
COX6BCOXGCOXVIb1MC4DN7
Chromosome 19
Chromosome location 19q13.12
Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121909602 G>A Pathogenic Coding sequence variant, missense variant
rs778740017 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
439
miRTarBase ID miRNA Experiments Reference
MIRT044502 hsa-miR-320a CLASH 23622248
MIRT038293 hsa-miR-130b-5p CLASH 23622248
MIRT036188 hsa-miR-320b CLASH 23622248
MIRT711874 hsa-miR-3146 HITS-CLIP 19536157
MIRT711873 hsa-miR-621 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity NAS 2172092
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
124089 2280 ENSG00000126267
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14854
Protein name Cytochrome c oxidase subunit 6B1 (Cytochrome c oxidase subunit VIb isoform 1) (COX VIb-1)
Protein function Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
PDB 5Z62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02297 COX6B 19 83 Cytochrome oxidase c subunit VIb Domain
Sequence
Sequence length 86
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex IV deficiency, nuclear type 1 Likely pathogenic rs778740017, rs121909602 RCV000201789
RCV000018371
Mitochondrial complex IV deficiency, nuclear type 7 Likely pathogenic rs121909602 RCV005025068
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
COX6B1-related disorder Benign rs7991 RCV003975101
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 24781756
Colorectal Neoplasms Associate 22545919
COVID 19 Associate 38259479
Cytochrome c Oxidase Deficiency Associate 24781756
Heart Diseases Associate 24781756
Hydrocephalus Associate 24781756
Leukemia Lymphocytic Chronic B Cell Associate 16083281
Lymphatic Metastasis Associate 22545919
Mitochondrial Diseases Associate 26669719
Mitochondrial Encephalomyopathies Associate 18499082, 24781756