NCF2 Chromosome 1
Neutrophil cytosolic factor 2
Upload your DNA to see your personal genotypes for variants in NCF2.
What This Gene Does
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]
Gene Info
Gene Group
Tetratricopeptide repeat domain containing
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000116701
Associated Conditions (10)
Granulomatous disease
chronic
autosomal recessive
cytochrome b-positive
type 2
Inborn genetic diseases
NCF2-related disorder
Chronic granulomatous disease
Colon adenocarcinoma
Colorectal cancer
Key Variants
RS1038329001
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS115365142
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS119103276
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1192520130
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS137937390
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS142803799
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS143889676
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS145229115
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1459123494
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS147415774
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS147744729
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1672346572
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2527964072 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2527976811 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2528021632 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2528021760 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2528022418 | Health Risk | Pathogenic | — |
| RS2528039666 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2528040305 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS374402066 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS750782115 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS752901695 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS755796920 | Health Risk | Pathogenic | — |
| RS756393096 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS763317358 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS764314608 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS774932046 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS777621636 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS796065030 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS796065031 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS796065032 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS796065033 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS898012170 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1349405769 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS137854508 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1572151178 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS2527963676 | Health Risk | Pathogenic/Likely pathogenic | Chronic granulomatous disease, Granulomatous disease, chronic |
| RS2527964515 | Health Risk | Pathogenic/Likely pathogenic | Chronic granulomatous disease, Granulomatous disease, chronic |
| RS749606885 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS766745748 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS990043411 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |