COX4I2 (cytochrome c oxidase subunit 4I2)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84701
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase subunit 4I2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COX4I2
Synonyms (NCBI Gene) Gene synonyms aliases
COX4, COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.21
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.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs119455950 G>A,T Uncertain-significance, pathogenic Stop gained, coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004129 Function Cytochrome-c oxidase activity IDA 11311561
GO:0005751 Component Mitochondrial respiratory chain complex IV IBA 21873635
GO:0005751 Component Mitochondrial respiratory chain complex IV IC 11311561
GO:0006091 Process Generation of precursor metabolites and energy NAS 11311561
GO:0006123 Process Mitochondrial electron transport, cytochrome c to oxygen IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607976 16232 ENSG00000131055
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96KJ9
Protein name Cytochrome c oxidase subunit 4 isoform 2, mitochondrial (Cytochrome c oxidase subunit IV isoform 2) (COX IV-2)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02936 COX4 33 → 170 Cytochrome c oxidase subunit IV Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lung.
Sequence
Sequence length 171
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  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 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Anemia of inadequate production 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)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Pancreatic insufficiency-anemia-hyperostosis syndrome pancreatic insufficiency-anemia-hyperostosis syndrome GenCC
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 19268275
Atrial Fibrillation Associate 38149324
Calvarial hyperostosis Associate 19268275
Exocrine Pancreatic Insufficiency Associate 19268275
Hypoxia Associate 19268275
Hypoxia Stimulate 38149324
Malabsorption Syndromes Associate 19268275
Mitochondrial Diseases Associate 38149324
Neoplasms Associate 37927240