• Gene id: 1535

Gene Summary

• Gene Symbol: CYBA   Gene   UCSC   Ensembl
• Aliases: p22-PHOX
• Gene name: cytochrome b-245 alpha chain
• Alternate names: cytochrome b-245 light chain, cytochrome b light chain, cytochrome b(558) alpha chain, cytochrome b(558) alpha-subunit, cytochrome b, alpha polypeptide, cytochrome b-245, alpha polypeptide, cytochrome b558 subunit alpha, flavocytochrome b-558 alpha polypeptide, n,
• Gene location: 16q24.2 (88651078: 88643288)     Exons: 7     NC_000016.10
• Gene summary(Entrez): Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated
• OMIM: 608508

Protein Summary

• Protein general information: P13498  
  • Name: Cytochrome b 245 light chain (Cytochrome b(558) alpha chain) (Cytochrome b558 subunit alpha) (Neutrophil cytochrome b 22 kDa polypeptide) (Superoxide generating NADPH oxidase light chain subunit) (p22 phagocyte B cytochrome) (p22 phox) (p22phox)
  • Length: 195  
  • Mass: 21013
• Sequence:

  MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTA
  VVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQ
  PPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV

• Structural information:
  • Interpro: IPR007732  
  • PDB: 1WLP
  • PDBsum: 1WLP
  • DIP: 37650
  • STRING: ENSP00000261623
• Other Databases: GeneCards:  CYBA  Malacards:  CYBA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042554	superoxide anion generation	IBA	biological process
GO:0043020	NADPH oxidase complex	IBA	cellular component
GO:1900426	positive regulation of defense response to bacterium	IDA	biological process
GO:0032755	positive regulation of interleukin-6 production	IDA	biological process
GO:0034137	positive regulation of toll-like receptor 2 signaling pathway	IDA	biological process
GO:0043020	NADPH oxidase complex	IDA	colocalizes with
GO:0050766	positive regulation of phagocytosis	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	IDA	biological process
GO:0045087	innate immune response	ISS	biological process
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
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: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:0034599	cellular response to oxidative stress	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070257	positive regulation of mucus secretion	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0097038	perinuclear endoplasmic reticulum	IEA	cellular component
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0070555	response to interleukin-1	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0045777	positive regulation of blood pressure	IEA	biological process
GO:0042554	superoxide anion generation	IEA	biological process
GO:0033864	positive regulation of NAD(P)H oxidase activity	IEA	biological process
GO:0032930	positive regulation of superoxide anion generation	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0014823	response to activity	IEA	biological process
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0003106	negative regulation of glomerular filtration by angiotensin	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904845	cellular response to L-glutamine	IEA	biological process
GO:1904385	cellular response to angiotensin	IEA	biological process
GO:1904044	response to aldosterone	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IEA	molecular function
GO:0014895	smooth muscle hypertrophy	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001725	stress fiber	IEA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0009055	electron transfer activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016175	superoxide-generating NADPH oxidase activity	IMP	contributes to
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0017004	cytochrome complex assembly	IDA	biological process
GO:0006801	superoxide metabolic process	IMP	biological process
GO:0006801	superoxide metabolic process	IMP	biological process
GO:0030141	secretory granule	TAS	cellular component
GO:0042554	superoxide anion generation	IMP	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0045730	respiratory burst	IMP	biological process
GO:0050665	hydrogen peroxide biosynthetic process	ISS	biological process
GO:0055114	oxidation-reduction process	IMP	biological process
GO:0055114	oxidation-reduction process	IMP	biological process
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0006954	inflammatory response	IMP	biological process
GO:0014895	smooth muscle hypertrophy	ISS	biological process
GO:0043020	NADPH oxidase complex	IMP	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa04145	Phagosome
hsa04380	Osteoclast differentiation
hsa05418	Fluid shear stress and atherosclerosis
hsa04670	Leukocyte transendothelial migration
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Chronic granulomatous disease	KEGG:H00098
Chronic granulomatous disease	KEGG:H00098
Sleep apnea	PMID:20367952
Hypertension	PMID:12729892
Asthma	PMID:19459419
Chronic obstructive pulmonary disease	PMID:19567155
Chronic granulomatous disease	PMID:10759707
Coronary artery disease	PMID:14709372
acute lymphocytic leukemia	PMID:19222940
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R