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FLASH GENE
Symbol NCF2 contributors: mct/npt/pgu - updated : 29-05-2010
HGNC name neutrophil cytosolic factor 2
HGNC id 7661
Corresponding disease
GDCC2 granulomatous disease, chronic, cytochrome b positive, type II
Location 1q25.3      Physical location : 183.524.697 - 183.560.056
Synonym name
  • phagocyte oxidase
  • neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)
  • NADPH oxidase activator 2
  • neutrophil NADPH oxidase factor 2
  • Synonym symbol(s) NOXA2, p67phox, P67-PHOX, FLJ93058
    EC.number 1.6.99.-
    DNA
    TYPE functioning gene
    STRUCTURE 35.35 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text presence of four NCF2 5'-UTR mRNA variants (designated as NCF2 exon 1, intron 1a, intron 1b and intron 1c)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2429 - 526 - 2007 17712795
    16 - 2256 - 526 - 2007 17712795
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestiveintestinelarge intestinecolon moderately
    Lymphoid/Immunelymph node   moderately
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • three tetratricopeptide repeats within its N-terminal Racl GTP binding region
  • a PB1 domain
  • two SH3 domains
  • acidic middle and C-terminal domains that are similar to a sequence motif found in the noncatalytic domain of src-related tyrosine kinases
  • HOMOLOGY
    interspecies ortholog to murine Ncf2
    ortholog to rattus Ncf2_predicted
    Homologene
    FAMILY
  • NCF2/NOXA1 family
  • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text translocated to the plasma membrane after activation
    basic FUNCTION
  • p67-phox, 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
  • being a membrane bound cytochrome b558 required for activation of the latent NADPH oxidase
  • essential component of the multi-protein NADPH oxidase enzyme in phagocytic leukocytes, as well as in certain non-phagocytic cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation , electron transport
    PATHWAY
    metabolism other
    signaling
    superoxide metabolism
    a component
  • component of NADPH oxidase system cypb245
  • forming a cytosolic precomplex with NCF1 and NCF4
  • component of an intracellular complex made of CYBB, CYBA, NCF2, NCF4 in unstimulated endothelial cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with cytochrome b58 (CYBB)
  • SYTL1
  • RAC1
  • interacting with PLAGL2
  • NCF2 binding to VAV1 involves their respective PB1 and ZF domains
  • cell & other
    REGULATION
    activated by binding to CYBB activated by RAC1
    Other regulated through mechanisms that include modulation of transcription and translation
    regulated by PLAGL2, but overexpression of PLAGL2 alone was not sufficient to activate an NCF2 promoter-reporter plasmid, suggesting the requirement for other factors
    ASSOCIATED DISORDERS
    corresponding disease(s) GDCC2
    related resource NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox
    Susceptibility to systemic lupus erythematosus (SLE)
    Variant & Polymorphism SNP
  • a single nonsynonymous coding mutation in exon 12, the effect of which is the substitution of histidine-389 with glutamine (H389Q) in the PB1 domain of the NCF2 protein, associated with SLE
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS