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Gene

NCF4

neutrophil cytosolic factor 4

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 36,861,006–36,878,015 (GRCh38)
Exons
10 exons across 17 kb
Protein
339 amino acids
Inheritance
Autosomal recessive
Also known as
p40phox, SH3PXD4
MANE Select transcript
ENST00000248899.11NM_000631.5
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 3Autosomal recessive
      • 2 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.

      • 2 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.

      • 2 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.

      • 2 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 NCF4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where NCF4 sits. NCF4 and 19 genes near it on chromosome 22, from 36,369,511 to 37,369,510.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3336.4 Mb36.6 Mb36.8 Mb37 Mb37.2 MbMYH9: 36,281,277–36,388,018, reverse strandMYH9TXN2: 36,466,895–36,482,072, reverse strandTXN2FOXRED2: 36,487,190–36,507,221, reverse strandFOXRED2EIF3D: 36,510,847–36,529,245, reverse strandEIF3DCACNG2: 36,560,857–36,703,779, reverse strandCACNG2IFT27: 36,741,346–36,776,309, reverse strandIFT27PVALB: 36,800,682–36,819,479, reverse strandPVALBNCF4: 36,861,006–36,878,015, forward strandNCF4CSF2RB: 36,913,590–36,940,454, forward strandCSF2RBCIMIP4: 36,991,119–37,007,884, reverse strandCIMIP4TST: 37,010,859–37,024,797, reverse strandTSTMPST: 37,019,635–37,029,828, forward strandMPSTKCTD17: 37,051,705–37,063,390, forward strandKCTD17TMPRSS6: 37,065,005–37,110,890, reverse strandTMPRSS6IL2RB: 37,118,666–37,176,676, reverse strandIL2RBC1QTNF6: 37,180,166–37,199,385, reverse strandC1QTNF6SSTR3: 37,204,237–37,212,482, reverse strandSSTR3RAC2: 37,225,270–37,259,594, reverse strandRAC2CYTH4: 37,282,027–37,315,346, forward strandCYTH4ELFN2: 37,367,960–37,427,596, reverse strandELFN2Diagram of NCF4: 10 exons on the forward strand of chromosome 22Exon 1: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 1: 36,861,006–36,861,203, 198 basesExon 2: 36,864,045–36,864,129, 85 basesExon 3: 36,864,919–36,865,072, 154 basesExon 4: 36,867,392–36,867,462, 71 basesExon 5: 36,870,415–36,870,542, 128 basesExon 6: 36,871,652–36,871,709, 58 basesExon 7: 36,872,327–36,872,425, 99 basesExon 8: 36,875,653–36,875,783, 131 basesExon 9: 36,876,029–36,876,094, 66 basesExon 10: 36,877,628–36,878,015, 388 bases123456789105′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 1.4 kb of the gene's 17 kb; 1,020 of those bases code for the protein.

How a genome test reads NCF4

25

positions in NCF4 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 17 kb of NCF4, introns included, not only the 1.4 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.). NCF4 gene: neutrophil cytosolic factor 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/ncf4

Vancouver

Dante Labs. NCF4 gene: neutrophil cytosolic factor 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ncf4

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