Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2: genes and variants
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 is linked to 3 analyzed proteins (NCF2, NCF1 and NCF4). 9 DNA variants are known to cause it; 240 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Genes linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
NCF2: Neutrophil cytosol factor 2
It helps activate the phagocyte NADPH oxidase by assembling with membrane and cytosolic partners during the respiratory burst. Biallelic loss-of-function variants cause chronic granulomatous disease and impaired killing of catalase-positive bacteria and fungi.
6 disease-causing and 139 uncertain variants in NCF2 are linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2.
NCF1: Neutrophil cytosol factor 1
After phagocyte activation, it joins the NADPH oxidase complex to generate microbicidal reactive oxygen species. Biallelic loss-of-function variants cause chronic granulomatous disease with recurrent bacterial and fungal infections.
2 disease-causing and 2 uncertain variants in NCF1 are linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2.
NCF4: Neutrophil cytosol factor 4
It helps organize and regulate phagocyte NADPH oxidase complexes and contributes to reactive-oxygen-species generation in innate immune cells. Biallelic pathogenic variants can cause a milder chronic-granulomatous-disease-like immunodeficiency with recurrent infection and inflammation.
1 disease-causing and 99 uncertain variants in NCF4 are linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2.
Known disease-causing variants in Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NCF1 R42Q | 42 | PX | Disease-causing (★★) |
| NCF4 R105Q | 105 | PX | Disease-causing (★★) |
| NCF2 A202V | 202 | Disease-causing (★★) | |
| NCF2 Y394D | 394 | PB1 | Disease-causing (★★) |
| NCF2 Q285H | 285 | SH3 1 | Disease-causing (★★) |
| NCF2 M1T | 1 | Disease-causing (★) | |
| NCF1 G192S | 192 | SH3 1 | Disease-causing |
| NCF2 D160V | 160 | Disease-causing | |
| NCF2 K161E | 161 | Disease-causing |
Which prediction tools work for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 84 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 75 out of 100
Diseases related to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- Chronic granulomatous disease, also linked to NCF1, NCF2 and NCF4
- Systemic lupus erythematosus, also linked to NCF2
Frequently asked questions
Which genes are linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2?
In CATVariant, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 is linked to 3 analyzed proteins: NCF2 (Neutrophil cytosol factor 2), NCF1 (Neutrophil cytosol factor 1) and NCF4 (Neutrophil cytosol factor 4).
How many genetic variants are linked to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2?
275 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 240 are of uncertain significance or have conflicting reports.
Which uncertain variants in Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.75, based on 9 disease-causing and 23 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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