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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
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