Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1340
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase subunit 6B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COX6B1
Synonyms (NCBI Gene) Gene synonyms aliases
COX6B, COXG, COXVIb1, MC4DN7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC4DN7
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity NAS 2172092
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0006123 Process Mitochondrial electron transport, cytochrome c to oxygen TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
124089 2280 ENSG00000126267
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
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)
Unknown
Disease term Disease name Evidence References Source
Cytochrome-c oxidase deficiency Cytochrome-c Oxidase Deficiency 24781756, 18499082, 27604308 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 7 GenCC
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease GenCC
Associations from Text Mining
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