Skip to content
Use your HSA or FSA funds

Gene

CYBB

cytochrome b-245 beta chain

Summary

Cytogenetic location
Xp21.1-p11.4
Coordinates
Chromosome X: 37,780,059–37,813,461 (GRCh38)
Exons
13 exons across 33.4 kb
Protein
570 amino acids
Inheritance
X-linked recessive
Also known as
GP91-PHOX, NOX2, GP91PHOX, p91-PHOX
Previous symbols
CGD
MANE Select transcript
ENST00000378588.5NM_000397.4
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, X-LinkedX-linked recessive
      • 4 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.

      • 4 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.

      • 4 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.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How CYBB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where CYBB sits. CYBB and 10 genes near it on chromosome X, from 37,296,760 to 38,296,759.Chromosome XXp21.1-p11.4p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2837.4 Mb37.6 Mb37.8 Mb38 Mb38.2 MbPRRG1: 37,349,269–37,492,702, forward strandPRRG1: 37,349,330–38,687,674, forward strandLANCL3: 37,571,565–37,684,463, forward strandLANCL3XK: 37,685,558–37,732,130, forward strandXKCYBB: 37,780,059–37,813,461, forward strandCYBBDYNLT3: 37,836,611–37,847,593, reverse strandDYNLT3H2AP: 37,990,779–37,991,314, forward strandH2APH2AL3: 37,994,272–37,994,904, forward strandH2AL3SYTL5: 38,006,515–38,128,964, forward strandSYTL5SRPX: 38,149,336–38,220,941, reverse strandSRPXRPGR: 38,269,115–38,327,573, reverse strandRPGRDiagram of CYBB: 13 exons on the forward strand of chromosome XExon 1: 8 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 16 known disease-causing sitesExon 7: 11 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 23 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 1: 37,780,059–37,780,122, 64 basesExon 2: 37,782,088–37,782,183, 96 basesExon 3: 37,783,490–37,783,600, 111 basesExon 4: 37,791,975–37,792,059, 85 basesExon 5: 37,793,665–37,793,810, 146 basesExon 6: 37,795,951–37,796,141, 191 basesExon 7: 37,798,955–37,799,084, 130 basesExon 8: 37,801,256–37,801,348, 93 basesExon 9: 37,803,877–37,804,130, 254 basesExon 10: 37,805,006–37,805,168, 163 basesExon 11: 37,806,387–37,806,533, 147 basesExon 12: 37,809,567–37,809,691, 125 basesExon 13: 37,810,791–37,813,461, 2,671 bases123456789101112135′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 4.3 kb of the gene's 33.4 kb; 1,713 of those bases code for the protein.

How a genome test reads CYBB

142

positions in CYBB 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 33.4 kb of CYBB, introns included, not only the 4.3 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.). CYBB gene: cytochrome b-245 beta chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/cybb

Vancouver

Dante Labs. CYBB gene: cytochrome b-245 beta chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cybb

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test