Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1536
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b-245 beta chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYBB
Synonyms (NCBI Gene) Gene synonyms aliases
AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CGDX, IMD34
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp21.1-p11.4
Summary Summary of gene provided in NCBI Entrez Gene.
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137854585 C>A,T Not-provided, pathogenic Coding sequence variant, missense variant
rs137854586 G>A,C Not-provided, pathogenic Coding sequence variant, missense variant
rs137854587 C>T Not-provided, pathogenic Coding sequence variant, missense variant
rs137854588 C>T Pathogenic Coding sequence variant, stop gained
rs137854589 G>A,C Not-provided, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT438000 hsa-miR-34a-5p Western blot 24393844
MIRT438000 hsa-miR-34a-5p Western blot 24393844
MIRT668855 hsa-miR-4640-3p HITS-CLIP 23824327
MIRT659210 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT659211 hsa-miR-6795-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
CUX1 Activation 14605447
ELF1 Unknown 10233904
EP300 Repression 14605447
GATA1 Activation 10734088
GATA2 Repression 10734088
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
GO:0005244 Function Voltage-gated ion channel activity IEA
GO:0005515 Function Protein binding IPI 3305576, 28351984, 32296183
GO:0005635 Component Nuclear envelope IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300481 2578 ENSG00000165168
Protein
UniProt ID P04839
Protein name NADPH oxidase 2 (EC 1.6.3.-) (CGD91-phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Cytochrome b-245 heavy chain) (Heme-binding membrane glycoprotein gp91phox) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide-generating NADP
Protein function 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 acti
PDB 3A1F , 7U8G , 8GZ3 , 8KEI , 8WEJ , 8X2L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01794 Ferric_reduct 54 220 Ferric reductase like transmembrane component Family
PF08022 FAD_binding_8 292 395 FAD-binding domain Domain
PF08030 NAD_binding_6 401 551 Ferric reductase NAD binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in neutrophils (at protein level). {ECO:0000269|PubMed:19028840}.
Sequence
Sequence length 570
Interactions View interactions