NCF2

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

Description

Neutrophil cytosolic factor 2

Tissue specificity

Tissue enhanced (bone marrow, lung, lymphoid tissue)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (183555562 - 183590876)

Ensembl ID

ENSG00000116701  (ver. 103.38)

Orthologs

Mouse Ncf2: ENSMUSG00000026480

UniProt

P19878

neXtProt

NX_P19878

Human splice variants
Mouse splice variants

Protein structure