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NCF2

Chr 1q25.3

neutrophil cytosolic factor 2

Aliases:
p67phox, NOXA2
MANE:
ENST00000367535.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Infantile enterocolitis & monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Gastrointestinal epithelial barrier disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • chronic granulomatous disease

    0.67
  • systemic lupus erythematosus

    0.53
  • celiac disease

    0.51
  • rheumatoid arthritis

    0.43
  • autoimmune disorder of musculoskeletal system

    0.42
  • systemic sclerosis

    0.33
  • myositis disease

    0.33
  • cutaneous lupus erythematosus

    0.33
  • lupus erythematosus

    0.32
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neutrophil cytosol factor 2

Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:12207919, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.