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Gene

NCF2

neutrophil cytosolic factor 2

Summary

Cytogenetic location
1q25.3
Coordinates
Chromosome 1: 183,555,562–183,590,459 (GRCh38)
Exons
15 exons across 34.9 kb
Protein
526 amino acids
Inheritance
Autosomal recessive
Also known as
p67phox, NOXA2
MANE Select transcript
ENST00000367535.8NM_000433.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Chronic Granulomatous Disease

    • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2Autosomal recessive

      Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.

      • 3 GenCC submitters rate it definitive or strong

    • Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

      • 3 GenCC submitters rate it definitive or strong
    • Phagocyte Bactericidal Dysfunction

      Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.

      • 3 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NCF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where NCF2 sits. NCF2 and 9 genes near it on chromosome 1, from 183,073,011 to 184,073,010.Chromosome 11q25.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44183.2 Mb183.4 Mb183.6 Mb183.8 Mb184 MbLAMC1: 183,023,199–183,145,592, forward strandLAMC1LAMC2: 183,186,057–183,245,127, forward strandLAMC2NMNAT2: 183,244,571–183,418,421, reverse strandNMNAT2SMG7: 183,471,871–183,598,246, forward strandSMG7NCF2: 183,555,562–183,590,459, reverse strandNCF2ARPC5: 183,620,846–183,635,908, reverse strandARPC5RGL1: 183,636,066–183,928,532, forward strandRGL1APOBEC4: 183,646,275–183,653,316, reverse strandAPOBEC4COLGALT2: 183,929,854–184,037,777, reverse strandCOLGALT2TSEN15: 184,051,629–184,123,978, forward strandTSEN15Diagram of NCF2: 15 exons on the reverse strand of chromosome 1Exon 14: 2 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 11: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 15: 183,555,562–183,556,230, 669 basesExon 14: 183,560,096–183,560,273, 178 basesExon 13: 183,563,195–183,563,306, 112 basesExon 12: 183,563,434–183,563,585, 152 basesExon 11: 183,564,005–183,564,030, 26 basesExon 10: 183,565,704–183,565,779, 76 basesExon 9: 183,566,920–183,566,988, 69 basesExon 8: 183,567,204–183,567,345, 142 basesExon 7: 183,569,142–183,569,185, 44 basesExon 6: 183,570,780–183,570,839, 60 basesExon 5: 183,573,185–183,573,292, 108 basesExon 4: 183,574,487–183,574,621, 135 basesExon 3: 183,577,599–183,577,707, 109 basesExon 2: 183,586,895–183,586,977, 83 basesExon 1: 183,590,156–183,590,459, 304 bases15141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 34.9 kb; 1,581 of those bases code for the protein.

How a genome test reads NCF2

64

positions in NCF2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 34.9 kb of NCF2, introns included, not only the 2.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NCF2 gene: neutrophil cytosolic factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ncf2

Vancouver

Dante Labs. NCF2 gene: neutrophil cytosolic factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ncf2

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