Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CYBB contributors: mct/shn - updated : 07-06-2012
HGNC name cytochrome b-245, beta polypeptide
HGNC id 2578
Corresponding disease
CGD1 chronic granulomatous disease 1
Location Xp21.1      Physical location : 37.639.269 - 37.672.714
Synonym name
  • NADPH oxidase 2
  • neutrophil cytochrome b 91 kDa polypeptide
  • heme-binding membrane glycoprotein gp91phox
  • cytochrome b558 subunit beta
  • cytochrome b(558) subunit beta
  • cytochrome b-245, beta polypeptide
  • cytochrome b-245 heavy chain
  • superoxide-generating NADPH oxidase heavy chain subunit
  • chronic granulomatous disease
  • CGD91-phox
  • p22 phagocyte B-cytochrome
  • Synonym symbol(s) CGD, GP91-PHOX, NOX2, GP91-1, AMCBX2, GP91-1,GP91PHOX,p91-PHOX
    EC.number 1.-.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 29.97 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - DXS1049 - DXS8090 - CYBB - DXS1069 - DXS1068 - cen
    Physical map
    FLJ35782 Xp21.1 hypothetical protein FLJ35782 LOC392440 X similar to hypothetical protein MGC33889 LOC340571 Xp21.1 similar to hSIAH1 LOC392441 X similar to melanoma antigen LOC139604 Xp21.1 similar to hypothetical protein MGC33889 MGC34831 Xp21.1 hypothetical protein MGC34831 FLJ36601 Xp21.1 hypothetical protein FLJ36601 LOC158730 Xp21.1 hypothetical LOC158730 PRRG1 Xp21.1 proline-rich Gla (G-carboxyglutamic acid) polypeptide 1 LOC389844 X similar to ferritin, heavy polypeptide-like 17 LOC139249 Xp21.1 similar to hypothetical protein FLJ35782 FLJ42925 Xp21.1 FLJ42925 protein XK Xp21.1 Kell blood group precursor (McLeod phenotype) CYBB Xp21.1 cytochrome b-245, beta polypeptide (chronic granulomatous disease) TCTE1L Xp21.1 t-complex-associated-testis-expressed 1-like SC4MOP Xp21.1 sterol-C4-methyl oxidase pseudogene HYPM Xp21.1 sterol-C4-methyl oxidase pseudogene LOC340549 Xp21.1 similar to RIKEN cDNA 1700113O17 SYTL5 Xp21.1 synaptotagmin-like 5 SRPX Xp21.1 sushi-repeat-containing protein, X chromosome LOC286441 Xp21.1 hypothetical LOC286441 RPGR Xp21.1 retinitis pigmentosa GTPase regulator OTC Xp21.1 ornithine carbamoyltransferase LOC392442 X similar to BAG-family molecular chaperone regulator-1 (BCL-2 binding athanogene-1) (BAG-1) (Glucocorticoid receptor-associated protein RAP46) LOC392443 X similar to ferritin light chain LOC392444 X similar to Nucleolar transcription factor 1 (Upstream binding factor 1) (UBF-1) TM4SF2 Xp11.4-q11 transmembrane 4 superfamily member 2 LOC389845 X LOC389845 STRAIT11499 Xp11.4 hypothetical protein STRAIT11499 LOC389846 X hypothetical gene supported by BC043536 GAPDP1 Xp11.4-p11.23 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 LOC392445 X similar to 40S ribosomal protein S11 BCOR Xp11.4 BCL6 co-repressor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing - 12 115 lung, colon 2004 15194196
  • exon downstream from exon III, exon IIIa mapped 6.4 kb downstream of exon III, and 1.6 kb upstream from exon IV
  • playing possibly a role for NOX-2S in the regulation of NADPH oxidase activity
  • 13 - 4353 - 570 - 2005 16179592
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    Cardiovascularendothelial
    Muscularmyocyte Homo sapiens
    not specificchondrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • in developing limb, highly expressed in prehypertrophic and hypertrophic chondrocytes
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • binding sites for NADPH, FAD as well as heme
  • six transmembrane domains
  • C-terminal NADPH and FAD domains
  • conjugated GlycoP , sumoylated
    HOMOLOGY
    interspecies ortholog to Cybb, Mus musculus
    ortholog to Cybb, Rattus norvegicus
    ortholog to cybb, Danio rerio
    Homologene
    FAMILY
  • FRE/CYBB family
  • CATEGORY enzyme
    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
  • critical for the bactericidal activity of phagocytic cells and plays a major role in innate immunity (
  • its activity participates in the regulation of the phagosomal and endosomal pH in dendritic cells, and is required for efficient antigen cross-presentation (
  • with NOX4 mediate proliferative response in endothelial cells (
  • plays a fundamental role in host defense and innate immunity (
  • plays a fundamental role in conferring macrophages with the ability to respond to extracellular ATP stimulation with robust changes in cellular oxidation
  • plays an important role in the control of afferent arteriole tone and is involved in the contractile responses to ANGPT2 and/or adenosine
  • plays a key role in apoptosis and phagocytosis of hepatocytes inducing activation of hepatic stellate cells and initiation of fibrosis in liver
  • role in the activation of autophagy, a cellular degradative pathway
  • mediating proliferative response in endothelial cells
  • reactive oxygen species generated by NADPH oxidase 2 and 4 (CYBB and NOX4)are required for chondrogenic differentiation
  • implicated as a source of rapid stretch-dependent ROS production at the junctional sarcoplasmic reticulum of cardiomyocytes (X-ROS signaling)
  • plays a role in neuronal cell death during retinal ischemia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    superoxide metabolism
    a component
  • membrane bound, heavy component of the NADPH oxidase system cytochrome b- 245
  • component of an intracellular complex, CYBA, NCF1, NCF2, NCF4 in unstimulated endothelial cells
  • component of the phagocyte respiratory burst oxidase
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor, nucleotide,
  • Fa2+
  • FAD
  • protein
  • p22(phox), p47(phox), p67(phox), and p40(phox) (
  • IQGAP1 (
  • Small ubiquitin-like modifier 1, SUMO1 (
  • cell & other
    REGULATION
    activated by HOXA9, in differentiated myeloid cells
    a pathway leading to CYBB activation in which PLA2G6-regulated MAPK14 activity is a key regulator of S100A8/A9 translocation via S100A9 phosphorylation
    repressed by HOXA10
    Other major ROS generator, sumoylated by SUMO1 at plasma membrane and sumoylation modulates NOX activity negatively
    sumoylated by Small ubiquitin-like modifier 1, SUMO1 (
    ASSOCIATED DISORDERS
    corresponding disease(s) CGD1
    related resource X-linked granulomatous disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS