• Gene id: 1536

Gene Summary

• Gene Symbol: CYBB   Gene   UCSC   Ensembl
• Aliases: AMCBX2, CGD, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
• Gene name: cytochrome b-245 beta chain
• Alternate names: cytochrome b-245 heavy chain, CGD91-phox, NADPH oxidase 2, cytochrome b(558) subunit beta, cytochrome b-245 beta polypeptide, cytochrome b558 subunit beta, heme-binding membrane glycoprotein gp91phox, neutrophil cytochrome b 91 kDa polypeptide, p22 phagocyte B-cy,
• Gene location: Xp21.1-p11.4 (37780058: 37813460)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300481

Protein Summary

• Protein general information: P04839  
  • Name: Cytochrome b 245 heavy chain (EC 1. . . ) (CGD91 phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Heme binding membrane glycoprotein gp91phox) (NADPH oxidase 2) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide generating NADP
  • Length: 570  
  • Mass: 65336
  • Tissue specificity: Detected in neutrophils (at protein level). {ECO
• Sequence:

  MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNL
  LSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNE
  SYLNFARKRIKNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAE
  RIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
  VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQE
  FQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHA
  FEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIAS
  QHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF

• Structural information:
  • Protein Domains: (54..28-)
    (/note="Ferric-oxidoreductase)
    (287..39-)
    (/note="FAD-binding-FR-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00716"-)
  • Interpro: IPR000778  IPR013112  IPR017927  IPR013130  IPR013121   IPR039261  IPR017938  
  • Prosite: PS51384
  • PDB: 3A1F
  • PDBsum: 3A1F
  • DIP: 42005
  • STRING: ENSP00000367851
• Other Databases: GeneCards:  CYBB  Malacards:  CYBB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0043020	NADPH oxidase complex	IBA	cellular component
GO:0006952	defense response	IBA	biological process
GO:0042554	superoxide anion generation	IBA	biological process
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0045087	innate immune response	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006954	inflammatory response	ISS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006954	inflammatory response	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0034599	cellular response to oxidative stress	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990776	response to angiotensin	IEA	biological process
GO:1904845	cellular response to L-glutamine	IEA	biological process
GO:1904044	response to aldosterone	IEA	biological process
GO:0097411	hypoxia-inducible factor-1alpha signaling pathway	IEA	biological process
GO:0071361	cellular response to ethanol	IEA	biological process
GO:0071276	cellular response to cadmium ion	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097038	perinuclear endoplasmic reticulum	IEA	cellular component
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0009055	electron transfer activity	IDA	contributes to
GO:0016175	superoxide-generating NADPH oxidase activity	IDA	contributes to
GO:0020037	heme binding	IMP	molecular function
GO:0050660	flavin adenine dinucleotide binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016175	superoxide-generating NADPH oxidase activity	TAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0042554	superoxide anion generation	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0006801	superoxide metabolic process	TAS	biological process
GO:0042554	superoxide anion generation	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0045730	respiratory burst	TAS	biological process
GO:0045730	respiratory burst	IMP	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0043020	NADPH oxidase complex	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04621	NOD-like receptor signaling pathway
hsa04145	Phagosome
hsa04217	Necroptosis
hsa04670	Leukocyte transendothelial migration
hsa04066	HIF-1 signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05140	Leishmaniasis
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Chronic granulomatous disease	KEGG:H00098
Chronic granulomatous disease	KEGG:H00098
Renal fibrosis	PMID:22568654
X-linked chronic granulomatous disease	PMID:12804147
Chronic granulomatous disease	PMID:11122248
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)