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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
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