Homo sapiens Gene: CYBB
Summary
InnateDB Gene IDBG-55775.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYBB
Gene Name cytochrome b-245, beta polypeptide
Synonyms AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX;
Species Homo sapiens
Ensembl Gene ENSG00000165168
Encoded Proteins
cytochrome b-245, beta polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
CYBB (NOX2) functions in reactive oxygen species (ROS) generation to induce TNF-alpha-mediated host cell apoptosis and it function in sensing of persistent intracellular pathogens for subsequent induction of host cell apoptosis as a second line of defence.
CYBB is an NADPH oxidases which plays a central role in microbial killing by phagocytes through the generation of reactive oxygen species (ROS) and CYBB-generated ROS are necessary for LC3 recruitment to phagosomes, coupling oxidative and non-oxidative killing activities of the CYBB NADPH oxidase in phagocytes through autophagy.
CYBB and reactive oxygen species (ROS) are required for the host cell to trigger an efficient RIG-I-mediated IRF-3 activation and downstream antiviral IFNbeta and IFIT1 gene expression and CYBB is critical for the expression of the central mitochondria-associated adaptor MAVS.
Entrez Gene
Summary Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell\'s respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:37780011-37813461
Strand Forward strand
Band p21.1
Transcripts
ENST00000378588 ENSP00000367851
ENST00000492288
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 27 [view]
Protein-Protein 13 [view]
Protein-DNA 14 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005244 voltage-gated ion channel activity
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0016175 superoxide-generating NADPH oxidase activity
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0050660 flavin adenine dinucleotide binding
Biological Process
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0006801 superoxide metabolic process
GO:0006811 ion transport
GO:0006954 inflammatory response
GO:0007584 response to nutrient
GO:0034765 regulation of ion transmembrane transport
GO:0042493 response to drug
GO:0042554 superoxide anion generation
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087 innate immune response (InnateDB)
GO:0045730 respiratory burst
GO:0050665 hydrogen peroxide biosynthetic process
GO:0051701 interaction with host
GO:0055114 oxidation-reduction process
GO:0090382 phagosome maturation
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0030425 dendrite
GO:0030670 phagocytic vesicle membrane
GO:0043020 NADPH oxidase complex
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by VEGF pathway
Cross-presentation of particulate exogenous antigens (phagosomes) pathway
Signal Transduction pathway
Antigen processing-Cross presentation pathway
Phagosomal maturation (early endosomal stage) pathway
Adaptive Immune System pathway
Immune System pathway
VEGFA-VEGFR2 Pathway pathway
Class I MHC mediated antigen processing & presentation pathway
Latent infection of Homo sapiens with Mycobacterium tuberculosis pathway
Disease pathway
KEGG
Phagosome pathway
Osteoclast differentiation pathway
Leukocyte transendothelial migration pathway
INOH
PID BIOCARTA
PID NCI
RAC1 signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.292356 Hs.599853
RefSeq NM_000397
HUGO
OMIM
CCDS CCDS14242
HPRD 02382
IMGT
EMBL
GenPept
RNA Seq Atlas