Entity Details

Primary name CYBB
Entity type gene
Source Source Link

Details

PrimaryID1536
RefseqGeneNG_009065
SymbolCYBB
Namecytochrome b-245 beta chain
ChromosomeX
LocationXp21.1-p11.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCY24B_HUMAN

GO terms

Show/Hide Table
GOName
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0005244 voltage-gated ion channel activity
GO:0005635 nuclear envelope
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006801 superoxide metabolic process
GO:0006952 defense response
GO:0006954 inflammatory response
GO:0007584 response to nutrient
GO:0016175 superoxide-generating NAD(P)H oxidase activity
GO:0020037 heme binding
GO:0022900 electron transport chain
GO:0030425 dendrite
GO:0030670 phagocytic vesicle membrane
GO:0032760 positive regulation of tumor necrosis factor production
GO:0034599 cellular response to oxidative stress
GO:0034765 regulation of ion transmembrane transport
GO:0035579 specific granule membrane
GO:0042493 response to drug
GO:0042554 superoxide anion generation
GO:0043020 NADPH oxidase complex
GO:0043025 neuronal cell body
GO:0043312 neutrophil degranulation
GO:0045087 innate immune response
GO:0045454 cell redox homeostasis
GO:0045730 respiratory burst
GO:0045766 positive regulation of angiogenesis
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0050660 flavin adenine dinucleotide binding
GO:0070821 tertiary granule membrane
GO:0071276 cellular response to cadmium ion
GO:0071361 cellular response to ethanol
GO:0097038 perinuclear endoplasmic reticulum
GO:0097411 hypoxia-inducible factor-1alpha signaling pathway
GO:1904044 response to aldosterone
GO:1904845 cellular response to L-glutamine
GO:1990776 response to angiotensin

Diseases

Show/Hide Table
Disease IDSourceNameDescription
306400 OMIMGranulomatous disease, chronic, X-linked (CGD)A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. The disease is caused by variants affecting the gene represented in this entry.
300645 OMIMImmunodeficiency 34 (IMD34)A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Disease susceptibility is associated with variants affecting the gene represented in this entry.