CYBB

Chr Xp21.1-p11.4

cytochrome b-245 beta chain

Aliases:: GP91-PHOX, NOX2, GP91PHOX, p91-PHOX
MANE:: ENST00000378588.5

OMIM: 300481 ↗NCBI: 1536 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYBB · P04839

v62025-08-01

Predicted Aligned Error matrix for CYBB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.3/ 100

Very high

570 residues

Confidence breakdown

Very high(≥ 90)70%
Confident(70–90)25%
Low(50–70)4%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gastrointestinal epithelial barrier disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Infantile enterocolitis & monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare genetic inflammatory skin disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ectodermal dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Familial cicatricial alopecia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

chronic granulomatous disease
0.86
neurodegenerative disease
0.35
hereditary disease
0.19
discoid lupus erythematosus
0.18
Recurrent bronchitis
0.12
primary ciliary dyskinesia
0.12
Dynein arm defect of respiratory motile cilia
0.12
diabetes mellitus
0.11
systemic lupus erythematosus
0.11
neoplasm
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADPH oxidase 2

Catalytic subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:15338276, PubMed:36241643, PubMed:36413210, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (Probable) (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:19028840, PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (By similarity). NADPH oxidase complex assembly is impaired through interaction with NRROS (By similarity)