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Aliases for CYBB Gene

Aliases for CYBB Gene

  • Cytochrome B-245 Beta Chain 2 3 5
  • 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
  • NOX2 3 4
  • Cytochrome B-245, Beta Polypeptide 2
  • Cytochrome B-245 Beta Polypeptide 3
  • Chronic Granulomatous Disease 2
  • Cytochrome B-245 Heavy Chain 3
  • EC 1.-.-.- 4
  • GP91PHOX 3
  • P91-PHOX 3
  • EC 1.6.3 61
  • AMCBX2 3
  • IMD34 3
  • CGD 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 Chain) 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 AGE-RAGE signaling pathway in diabetic complications and Immune System. GO annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX1.

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

Enhancers for CYBB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF037752 1.3 FANTOM5 Ensembl ENCODE 16.2 -25.0 -25011 5.6 ESRRA ETV1 MAX ZBTB40 CBX5 EED NFE2 NR2F6 TRIM24 ETV6 CYBB XK
GH0XF037814 1.1 Ensembl ENCODE 12.8 +36.4 36432 4.5 PKNOX1 POLR2A HMBOX1 JUNB NFE2 SPI1 CYBB XK DYNLT3
GH0XF037784 0.8 FANTOM5 ENCODE 10.6 +6.3 6286 3.7 TBP TBL1XR1 MAX CEBPG BMI1 EBF1 FOSL1 POLR2A GATA2 SRF CYBB XK DYNLT3
GH0XF037745 1.3 FANTOM5 Ensembl ENCODE 5.8 -33.3 -33323 2.6 CTCF MAX ZNF384 EBF1 ZIC2 ZNF2 RAD21 RELA EGR1 CBX5 XK CYBB
GH0XF037801 1.4 FANTOM5 Ensembl 5.7 +22.1 22090 1.8 ZBTB40 CYBB DYNLT3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CYBB on UCSC Golden Path with GeneCards custom track

Promoters for CYBB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001031380 1289 3801 TBP MTA2 POLR2A SMARCA4 MLLT1 SPI1

Genomic Location for CYBB Gene

Chromosome:
X
Start:
37,780,011 bp from pter
End:
37,813,465 bp from pter
Size:
33,455 bases
Orientation:
Plus strand

Genomic View for CYBB Gene

Genes around CYBB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYBB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for CYBB Gene

Post-translational modifications for CYBB Gene

Other Protein References for CYBB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CYBB Gene

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

No data available for Gene Families for CYBB Gene

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 IEA,TAS 12716910
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYBB: view
genes like me logo Genes that share phenotypes with CYBB: view

Human Phenotype Ontology for CYBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYBB Gene

MGI Knock Outs for CYBB:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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 3
cytosol 2
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CYBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CYBB: view

Pathways & Interactions 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:0000302 response to reactive oxygen species TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006801 superoxide metabolic process IEA,TAS 12716910
GO:0006811 ion transport IEA --
GO:0006954 inflammatory response IEA,ISS --
genes like me logo Genes that share ontologies with CYBB: view

No data available for SIGNOR curated interactions for CYBB Gene

Drugs & Compounds for CYBB Gene

(21) Drugs for CYBB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 129
FAD Approved Pharma 0
heme Pharma Agonist 0

(20) Additional Compounds for CYBB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with CYBB: view

Transcripts for CYBB Gene

mRNA/cDNA for CYBB Gene

Unigene Clusters for CYBB Gene

Cytochrome b-245, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 (x18.9) and Spleen (x4.3).

Protein differential expression in normal tissues from HIPED for CYBB Gene

This gene is overexpressed in Monocytes (22.5), Neutrophil (17.7), and Nasal epithelium (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYBB Gene



Protein tissue co-expression partners for CYBB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYBB Gene:

CYBB

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 expression patterns with CYBB: view

Primer Products

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 35
  • 100 (a)
OneToOne
LOC465566 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia NOX2 35
  • 93 (a)
OneToOne
CYBB 34
  • 89.77 (n)
cow
(Bos Taurus)
Mammalia CYBB 34 35
  • 90.23 (n)
rat
(Rattus norvegicus)
Mammalia Cybb 34
  • 88.13 (n)
oppossum
(Monodelphis domestica)
Mammalia CYBB 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYBB 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cybb 34 16 35
  • 87.6 (n)
chicken
(Gallus gallus)
Aves NOX2 35
  • 84 (a)
OneToOne
CYBB 34
  • 77.89 (n)
lizard
(Anolis carolinensis)
Reptilia CYBB 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cybb 34
  • 72.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19943 34
zebrafish
(Danio rerio)
Actinopterygii cybb 34 35
  • 66.31 (n)
zgc64144 34
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19230 34
  • 49.13 (n)
rice
(Oryza sativa)
Liliopsida Os08g0453700 34
  • 51.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU10775 34
  • 50.46 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3138 34
Species where no ortholog for CYBB was found in the sources mined by GeneCards:
  • 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

(3) 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
rs137854585 Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Pathogenic 37,805,098(+) CACAC(A/C/T)CTTCG reference, missense
rs137854586 Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Pathogenic 37,805,020(+) TGATG(A/C/G)GCCCT reference, missense
rs137854587 Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Pathogenic 37,796,092(+) ACACA(C/T)ATCAT reference, missense
rs137854589 Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Pathogenic 37,799,011(+) AGTTT(A/C/G)TGAAC reference, missense
rs137854590 Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Pathogenic 37,793,793(+) ATTTT(A/G)CTCGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYBB Gene

Variant ID Type Subtype PubMed ID
esv3573862 CNV loss 25503493

Variation tolerance for CYBB Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYBB Gene

Human Gene Mutation Database (HGMD)
CYBB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYBB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYBB Gene

Disorders for CYBB Gene

MalaCards: The human disease database

(12) MalaCards diseases for CYBB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease, x-linked
  • granulomatous disease, chronic, x-linked
immunodeficiency 34, mycobacteriosis, x-linked
  • immunodeficiency 34
chronic granulomatous disease
  • bridges-good syndrome
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
human granulocytic anaplasmosis
  • hge
- elite association - COSMIC cancer census association via MalaCards
Search CYBB in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYBB
genes like me logo Genes that share disorders with CYBB: view

Publications for CYBB Gene

  1. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. (PMID: 19410294) Di Matteo G. … Martire B. (Mol. Immunol. 2009) 3 22 46 64
  2. CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID: 12139950) Jirapongsananuruk O. … Fleisher T.A. (Clin. Immunol. 2002) 3 4 22 64
  3. 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 22 64
  4. Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway. (PMID: 10578014) Henderson L.M. … Meech R.W. (J. Gen. Physiol. 1999) 3 4 22 64
  5. 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 22 64

Products for CYBB Gene

Sources for CYBB Gene

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