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Aliases for CYBB Gene

Aliases for CYBB Gene

  • Cytochrome B-245, Beta Polypeptide 2 3
  • Superoxide-Generating NADPH Oxidase Heavy Chain Subunit 3 4
  • Heme-Binding Membrane Glycoprotein Gp91phox 3 4
  • Neutrophil Cytochrome B 91 KDa Polypeptide 3 4
  • Cytochrome B(558) Subunit Beta 3 4
  • Cytochrome B558 Subunit Beta 3 4
  • P22 Phagocyte B-Cytochrome 3 4
  • NADPH Oxidase 2 3 4
  • CGD91-Phox 3 4
  • GP91-PHOX 3 4
  • GP91-1 3 4
  • AMCBX2 3 6
  • NOX2 3 4
  • CGD 3 6
  • Chronic Granulomatous Disease 2
  • Cytochrome B-245 Heavy Chain 3
  • EC 1.-.-.- 4
  • GP91PHOX 3
  • P91-PHOX 3
  • EC 1.6.3 63
  • IMD34 3

External Ids for CYBB Gene

Previous HGNC Symbols for CYBB Gene

  • CGD

Previous GeneCards Identifiers for CYBB Gene

  • GC0XP035744
  • GC0XP035926
  • GC0XP036483
  • GC0XP036670
  • GC0XP037395
  • GC0XP037524
  • GC0XP037639
  • GC0XP035383

Summaries for CYBB Gene

Entrez Gene Summary for CYBB 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 chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYBB Gene

CYBB (Cytochrome B-245, Beta Polypeptide) is a Protein Coding gene. Diseases associated with CYBB include chronic granulomatous disease, x-linked and immunodeficiency 34, mycobacteriosis, x-linked. Among its related pathways are Disease and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX5.

UniProtKB/Swiss-Prot for CYBB Gene

  • Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc

Gene Wiki entry for CYBB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBB Gene

Genomics for CYBB Gene

Regulatory Elements for CYBB Gene

Genomic Location for CYBB Gene

Start:
37,780,011 bp from pter
End:
37,813,461 bp from pter
Size:
33,451 bases
Orientation:
Plus strand

Genomic View for CYBB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYBB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYBB Gene

Proteins for CYBB Gene

  • Protein details for CYBB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04839-CY24B_HUMAN
    Recommended name:
    Cytochrome b-245 heavy chain
    Protein Accession:
    P04839
    Secondary Accessions:
    • A8K138
    • Q2PP16

    Protein attributes for CYBB Gene

    Size:
    570 amino acids
    Molecular mass:
    65336 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex.
    SequenceCaution:
    • Sequence=CAA27635.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYBB Gene

neXtProt entry for CYBB Gene

Proteomics data for CYBB Gene at MOPED

Selected DME Specific Peptides for CYBB Gene

Post-translational modifications for CYBB Gene

Other Protein References for CYBB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CYBB Gene

Gene Families for CYBB Gene

HGNC:
  • CYB :Cytochrome b genes

Suggested Antigen Peptide Sequences for CYBB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04839

UniProtKB/Swiss-Prot:

CY24B_HUMAN :
  • P04839
Domain:
  • Contains 1 FAD-binding FR-type domain.
  • Contains 1 ferric oxidoreductase domain.
genes like me logo Genes that share domains with CYBB: view

Function for CYBB Gene

Molecular function for CYBB Gene

GENATLAS Biochemistry: cytochrome b-558,beta polypeptide,(91kDa,membrane bound component of the NADPH oxidase system,cypb245),gp91-phox,expressed in neutrophils,oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot Function: Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc

Enzyme Numbers (IUBMB) for CYBB Gene

Gene Ontology (GO) - Molecular Function for CYBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 3305576
GO:0009055 contributes_to electron carrier activity IDA 12042318
GO:0016175 superoxide-generating NADPH oxidase activity TAS 12716910
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with CYBB: view
genes like me logo Genes that share phenotypes with CYBB: view

Animal Models for CYBB Gene

MGI Knock Outs for CYBB:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CYBB Gene

Localization for CYBB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYBB Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYBB Gene COMPARTMENTS Subcellular localization image for CYBB gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CYBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CYBB: view

Pathways for CYBB Gene

genes like me logo Genes that share pathways with CYBB: view

Gene Ontology (GO) - Biological Process for CYBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006801 superoxide metabolic process TAS 12716910
GO:0006811 ion transport IEA --
GO:0006954 inflammatory response ISS --
genes like me logo Genes that share ontologies with CYBB: view

Compounds for CYBB Gene

(3) HMDB Compounds for CYBB Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Heme
  • (protoporphyrinato)iron
14875-96-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(38) Novoseek inferred chemical compound relationships for CYBB Gene

Compound -log(P) Hits PubMed IDs
nadph 93 147
superoxide 81.3 55
apocynin 78.1 3
diphenyleneiodonium 76.7 1
iodonitrotetrazolium 61 2
genes like me logo Genes that share compounds with CYBB: view

Transcripts for CYBB Gene

Unigene Clusters for CYBB Gene

Cytochrome b-245, beta polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYBB Gene

No ASD Table

Relevant External Links for CYBB Gene

GeneLoc Exon Structure for
CYBB
ECgene alternative splicing isoforms for
CYBB

Expression for CYBB Gene

mRNA expression in normal human tissues for CYBB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYBB Gene

This gene is overexpressed in Whole Blood (18.9) and Spleen (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYBB Gene

SOURCE GeneReport for Unigene cluster for CYBB Gene Hs.292356

mRNA Expression by UniProt/SwissProt for CYBB Gene

P04839-CY24B_HUMAN
Tissue specificity: Detected in neutrophils (at protein level).
genes like me logo Genes that share expressions with CYBB: view

Orthologs for CYBB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYBB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYBB 36
  • 100 (a)
OneToOne
LOC465566 35
  • 99.77 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CYBB 35
  • 90.23 (n)
  • 91.75 (a)
CYBB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYBB 35
  • 89.77 (n)
  • 92.81 (a)
NOX2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cybb 35
  • 87.6 (n)
  • 93.16 (a)
Cybb 16
Cybb 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYBB 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYBB 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cybb 35
  • 88.13 (n)
  • 92.63 (a)
chicken
(Gallus gallus)
Aves CYBB 35
  • 77.89 (n)
  • 84.74 (a)
NOX2 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYBB 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19943 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cybb 35
  • 72.16 (n)
  • 80.88 (a)
zebrafish
(Danio rerio)
Actinopterygii cybb 35
  • 66.31 (n)
  • 69.09 (a)
cybb 36
  • 66 (a)
OneToOne
zgc64144 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19230 35
  • 49.13 (n)
  • 39.8 (a)
rice
(Oryza sativa)
Liliopsida Os08g0453700 35
  • 51.7 (n)
  • 39.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10775 35
  • 50.46 (n)
  • 43.63 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3138 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for CYBB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYBB Gene

ENSEMBL:
Gene Tree for CYBB (if available)
TreeFam:
Gene Tree for CYBB (if available)

Paralogs for CYBB Gene

Paralogs for CYBB Gene

Selected SIMAP similar genes for CYBB Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CYBB: view

Variants for CYBB Gene

Sequence variations from dbSNP and Humsavar for CYBB Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2228117 -- 37,803,981(+) TCCAA(A/G)CTGGA synonymous-codon, reference
rs3935493 -- 37,795,107(-) TAGGA(C/G)AGCAT intron-variant
rs4355944 -- 37,779,094(+) atata(G/T)agaga upstream-variant-2KB
rs4422908 -- 37,782,273(+) AAATA(A/C)ATATT intron-variant
rs4595265 -- 37,783,152(+) GGATG(G/T)ATACA intron-variant

Relevant External Links for CYBB Gene

HapMap Linkage Disequilibrium report
CYBB
Human Gene Mutation Database (HGMD)
CYBB
Locus Specific Mutation Databases (LSDB)
CYBB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CYBB Gene

Disorders for CYBB Gene

(2) OMIM Diseases for CYBB Gene (300481)

UniProtKB/Swiss-Prot

CY24B_HUMAN
  • Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. {ECO:0000269 PubMed:10089913, ECO:0000269 PubMed:10914676, ECO:0000269 PubMed:11462241, ECO:0000269 PubMed:11997083, ECO:0000269 PubMed:12139950, ECO:0000269 PubMed:1710153, ECO:0000269 PubMed:18773283, ECO:0000269 PubMed:22125116, ECO:0000269 PubMed:23910690, ECO:0000269 PubMed:2556453, ECO:0000269 PubMed:7927345, ECO:0000269 PubMed:8101486, ECO:0000269 PubMed:8182143, ECO:0000269 PubMed:8916969, ECO:0000269 PubMed:9111587, ECO:0000269 PubMed:9585602, ECO:0000269 PubMed:9667376, ECO:0000269 PubMed:9794433, ECO:0000269 PubMed:9856476, ECO:0000269 PubMed:9888386}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 34 (IMD34) [MIM:300645]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269 PubMed:21278736}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CYBB Gene

(17) Novoseek inferred disease relationships for CYBB Gene

Disease -log(P) Hits PubMed IDs
granulomatous disease chronic 95.8 84
single gene defects 40.1 1
myeloid leukemia 37.4 4
human granulocytic ehrlichiosis 35.6 2
immunodeficiency 35 2

Genatlas disease for CYBB Gene

chronic granulomatous disease,X linked

Relevant External Links for CYBB

Genetic Association Database (GAD)
CYBB
Human Genome Epidemiology (HuGE) Navigator
CYBB
genes like me logo Genes that share disorders with CYBB: view

Publications for CYBB Gene

  1. Point mutations in the beta-subunit of cytochrome b558 leading to X- linked chronic granulomatous disease. (PMID: 1710153) Bolscher B.G.J.M. … Roos D. (Blood 1991) 3 4 23
  2. A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. (PMID: 8182143) Leusen J.H.W. … Verhoeven A.J. (J. Clin. Invest. 1994) 3 4 23
  3. An in-frame triplet deletion within the gp91-phox gene in an adult X- linked chronic granulomatous disease patient with residual NADPH- oxidase activity. (PMID: 9111587) Jendrossek V. … Gahr M. (Eur. J. Haematol. 1997) 3 4 23
  4. X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. (PMID: 9585602) Rae J. … Curnutte J.T. (Am. J. Hum. Genet. 1998) 3 4 23
  5. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. (PMID: 9888386) Patino P.J. … Garcia de Olarte D. (Hum. Mutat. 1999) 3 4 23

Products for CYBB Gene

Sources for CYBB Gene

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