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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NCF2
neutrophil cytosolic factor 2
Chromosome 1 Β· 1q25.3
NCBI Gene: 4688Ensembl: ENSG00000116701.16HGNC: HGNC:7661UniProt: A0A0S2Z457
163PubMed Papers
21Diseases
0Drugs
72Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolmembraneNADPH oxidase complexsuperoxide anion generationchronic granulomatous diseasesystemic lupus erythematosusceliac diseaserheumatoid arthritis
✦AI Summary

NCF2 (neutrophil cytosolic factor 2) is a critical subunit of the phagocyte NADPH oxidase complex that catalyzes electron transfer from cytosolic NADPH to molecular oxygen, generating superoxide anion (O2βˆ’) 12. In this complex, electrons are sequentially transferred from NADPH to flavin adenine dinucleotide (FAD) and then via heme molecules to oxygen through an outer-sphere reaction 2. Activation requires phosphorylation-dependent assembly of cytosolic subunits with the core membrane-bound complex 2. NCF2 dysfunction causes chr1 granulomatous disease (CGD), an autosomal recessive phagocytic disorder characterized by defective intracellular microbial killing and recurrent infections with bacteria and fungi 34. Beyond canonical NADPH oxidase function, NCF2 participates in inflammasome regulation by cooperating with NCF1 and NCF4 to promote NLRP3 and AIM2 inflammasome activation, functioning as an ROS sensor 5. Emerging evidence reveals NCF2's involvement in pathologic conditions. In atherosclerosis, elevated NCF2 correlates with oxidative stress and macrophage ferroptosis 6. NCF2 drives esophageal squamous cell carcinoma progression through ROS-independent mechanisms via the NR2F2/LATS2/YAP1 axis 7. In chemotherapy-induced alopecia, S100A8-mediated NCF2/NOX2 activation promotes ferroptosis in hair follicles 8. NCF2 also regulates neutrophil extracellular trap formation in osteoporosis pathogenesis 9, and serves as a protective factor in ulcerative colitis 10.

Sources cited
1
NCF2 (neutrophil cytosolic factor 2) is a critical subunit of the phagocyte NADPH oxidase complex that catalyzes electron transfer from cytosolic NADPH to molecular oxygen, generating superoxide anion (O2βˆ’) , .
PMID: 38355798
2
Beyond canonical NADPH oxidase function, NCF2 participates in inflammasome regulation by cooperating with NCF1 and NCF4 to promote NLRP3 and AIM2 inflammasome activation, functioning as an ROS sensor .
PMID: 38886341
3
In atherosclerosis, elevated NCF2 correlates with oxidative stress and macrophage ferroptosis .
PMID: 36035208
4
NCF2 drives esophageal squamous cell carcinoma progression through ROS-independent mechanisms via the NR2F2/LATS2/YAP1 axis .
PMID: 40645396
5
In chemotherapy-induced alopecia, S100A8-mediated NCF2/NOX2 activation promotes ferroptosis in hair follicles .
PMID: 39947495
6
NCF2 also regulates neutrophil extracellular trap formation in osteoporosis pathogenesis , and serves as a protective factor in ulcerative colitis .
PMID: 40696520
7
NCF2 also regulates neutrophil extracellular trap formation in osteoporosis pathogenesis , and serves as a protective factor in ulcerative colitis .
PMID: 39647286
Disease Associationsβ“˜21
chronic granulomatous diseaseOpen Targets
0.67Moderate
systemic lupus erythematosusOpen Targets
0.55Moderate
celiac diseaseOpen Targets
0.52Moderate
rheumatoid arthritisOpen Targets
0.45Moderate
autoimmune disorder of musculoskeletal systemOpen Targets
0.43Moderate
myositisOpen Targets
0.35Weak
cutaneous lupus erythematosusOpen Targets
0.34Weak
systemic sclerodermaOpen Targets
0.34Weak
lupus erythematosusOpen Targets
0.34Weak
smoking initiationOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
ulcerative colitisOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
pulmonary tuberculosisOpen Targets
0.08Suggestive
immunodeficiency 15aOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.07Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.06Suggestive
idiopathic CD4 lymphocytopeniaOpen Targets
0.06Suggestive
Granulomatous disease, chronic, autosomal recessive, 2UniProt
Pathogenic Variants72
NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 102
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 100
NM_000433.4(NCF2):c.366+1G>APathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β˜…β˜…β˜†β˜†2025
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease
β˜…β˜…β˜†β˜†2025β†’ Residue 394
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 388
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease
β˜…β˜…β˜†β˜†2025β†’ Residue 77
NM_000433.4(NCF2):c.835_836del (p.Thr279fs)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_000433.4(NCF2):c.605C>T (p.Ala202Val)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Chronic granulomatous disease|Colorectal cancer
β˜…β˜…β˜†β˜†2025β†’ Residue 202
NM_000433.4(NCF2):c.855G>C (p.Gln285His)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 285
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter)Pathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 66
NM_000433.4(NCF2):c.714-2A>GLikely pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2024
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2024β†’ Residue 192
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 374
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 19
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)Pathogenic
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 391
NM_000433.4(NCF2):c.417del (p.Ala140fs)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2023β†’ Residue 140
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2023β†’ Residue 167
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)Pathogenic
Chronic granulomatous disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2023β†’ Residue 367
NM_000433.4(NCF2):c.257+1G>APathogenic
not provided|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
β˜…β˜…β˜†β˜†2023
View on ClinVar β†—
Related Genes
CYTBProtein interaction100%NOXO1Protein interaction100%MAPK14Protein interaction100%POLDIP2Protein interaction99%NOX4Protein interaction99%NOX1Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
73%
Brain
6%
Liver
5%
Heart
5%
Ovary
2%
Gene Interaction Network
Click a node to explore
NCF2CYTBNOXO1MAPK14POLDIP2NOX4NOX1
PROTEIN STRUCTURE
Preparing viewer…
PDB1HH8 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.49–0.80]
RankingsWhere NCF2 stands among ~20K protein-coding genes
  • #2,759of 20,598
    Most Researched163 Β· top quartile
  • #1,017of 5,498
    Most Pathogenic Variants72 Β· top quartile
  • #6,640of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedNCF2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Novel Diagnostic Biomarkers Related to Oxidative Stress and Macrophage Ferroptosis in Atherosclerosis.
PMID: 36035208
Oxid Med Cell Longev Β· 2022
1.00
2
NCF4 attenuates colorectal cancer progression by modulating inflammasome activation and immune surveillance.
PMID: 38886341
Nat Commun Β· 2024
0.90
3
Chronic Granulomatous Disease.
PMID: 26865172
Indian J Pediatr Β· 2016
0.80
4
Tripeptide DT-109 (Gly-Gly-Leu) attenuates atherosclerosis and vascular calcification in nonhuman primates.
PMID: 40195303
Signal Transduct Target Ther Β· 2025
0.72
5
Neutrophil extracellular traps drive osteoporosis via NCF2-dependent signaling: integrated transcriptomics with mechanistic validation.
PMID: 40696520
Redox Rep Β· 2025
0.70