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FLASH GENE
Symbol CYBA contributors: npt/ - updated : 07-05-2007
HGNC name cytochrome b-245, alpha polypeptide
HGNC id 2577
Corresponding disease
CYBA chronic granulomatous disease
Location 16q24.3      Physical location : 88.709.697 - 88.717.457
Synonym name
  • cytochrome b-558,alpha polypeptide,(22kDa, membrane bound component of the NADPH oxidase system, cypb245), p22g-phox
  • flavocytochrome b-558 alpha polypeptide
  • p22 phagocyte B-cytochrome
  • superoxide-generating NADPH oxidase light chain subunit
  • Synonym symbol(s) p22-PHOX
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 7.76 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    SLC7A5 16q24.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 CA5A 16q24.3 carbonic anhydrase VA, mitochondrial BANP 16q24 carbonic anhydrase VA, mitochondrial LOC388306 16 LOC388306 LOC390747 16 similar to proline rich protein ZNF469 16q24 zinc finger protein 469 ZFPM1 16q24.3 zinc finger protein, multitype 1 LOC124245 16q24.3 hypothetical protein BC001584 IL17C 16q24 interleukin 17C CYBA 16q24.2 cytochrome b-245, alpha polypeptide MVD 16q24.2 mevalonate (diphospho) decarboxylase SNAI3 16q24.3 snail homolog 3 (Drosophila) MGC2647 16q24.3 hypothetical zinc finger protein MGC2647 LOC388307 16 similar to LOC348180 protein LOC348180 16q24.3 hypothetical protein LOC348180 KIAA0233 16q24.3 hypothetical protein LOC348180 FLJ40448 16q24.3 hypothetical protein FLJ40448 CDT1 16q24.3 DNA replication factor APRT 16q24.3 adenine phosphoribosyltransferase GALNS 16q24.2 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) LOC51693 16q24.3 unknown LOC390748 16 similar to putative polyA-binding protein PABPN2/ePABP2 CBFA2T3 16q24.3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 LOC390749 16 LOC390749 LOC197322 16q24.3 hypothetical protein LOC197322 FLJ36701 16q24.3 hypothetical protein FLJ36701 CDH15 16q24.3 cadherin 15, M-cadherin (myotubule) LOC388308 16 similar to Brain-type organic cation transporter FLJ31875 16q24.3 hypothetical protein FLJ31875 ANKRD11 16q24.3 ankyrin repeat domain 16 LOC390750 16 similar to Hypothetical protein CBG22662
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 743 - 195 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Lymphoid/Immunespleen   highly
     tonsils   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a proline-rich C terminus
  • at least one site for an SH3 domain
  • HOMOLOGY
    Homologene
    FAMILY
  • p22phox family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • oxygen dependent mechanism of phagocytosis
  • reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
  • encoding the small sub-unit, p22-phox protein, of the cytochrome b 558 of the NADPH oxidase that plays a crucial role in NADPH-dependent reactive oxygen species production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    superoxide metabolism
    a component
  • membrane component of the NADPH oxidase system cytochromeb-245, tightly associated with CYBB (GP91-phox)
  • component of an intracellular complex made of CYBB, NCF1, NCF2, NCF4 in unstimulated endothelial cells
  • may form an active NADPH oxidase complex with NOX4 (Goettsch 2009)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Fe2+
  • FAD
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CYBA
    related resource Autosomal recessive chronic granulomatous disease (CGD) deficiency of p22phox CYBAbase
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in endothelial cells (Goettsch 2009)
    Susceptibility
  • to coronary atherosclerosis
  • to non-Hodgkin lymphoma (NHL)
  • to obstructive pulmonary disease
  • Variant & Polymorphism SNP
  • significantly associated with an increased overall risk of NHL
  • -930AG+GG were significantly over-represented in chronic obstructive pulmonary disease (Vibhuti 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS