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FLASH GENE
Symbol CYBA contributors: npt/ - updated : 07-05-2007
HGNC name cytochrome b-245, alpha polypeptide
HGNC id 2577
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
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