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Aliases for CYBB Gene

Aliases for CYBB Gene

  • Cytochrome B-245, Beta Polypeptide 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 3
  • Chronic Granulomatous Disease 2
  • EC 1.-.-.- 4
  • GP91PHOX 3
  • P91-PHOX 3
  • EC 1.6.3 63
  • 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 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 Interleukin-3, 5 and GM-CSF signaling and Inhibitory action of Lipoxins on Superoxide production in neutrophils. 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

Enhancers for CYBB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CYBB on UCSC Golden Path with GeneCards custom track

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

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:
REFSEQ proteins:

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:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IMP 9774399
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

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:0043020 NADPH oxidase complex IEA,TAS 12716910
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:0006954 inflammatory response IEA,ISS --
GO:0042554 superoxide anion generation TAS 12716910
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

(19) 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 125
FAD Approved Pharma 0
heme Pharma Agonist 0

(22) 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:

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



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

Protein tissue co-expression partners for CYBB Gene

- Elite partner

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
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
chimpanzee
(Pan troglodytes)
Mammalia LOC465566 35
  • 99.77 (n)
  • 100 (a)
CYBB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cybb 35
  • 88.13 (n)
  • 92.63 (a)
oppossum
(Monodelphis domestica)
Mammalia CYBB 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYBB 36
  • 88 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia cybb 35
  • 72.16 (n)
  • 80.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19943 35
zebrafish
(Danio rerio)
Actinopterygii cybb 35
  • 66.31 (n)
  • 69.09 (a)
zgc64144 35
cybb 36
  • 66 (a)
OneToOne
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)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3138 35
bread mold
(Neurospora crassa)
Ascomycetes NCU10775 35
  • 50.46 (n)
  • 43.63 (a)
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

(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
rs137854591 Granulomatous disease, chronic, X-linked (CGD) 37,792,024(+) CTTTC(A/G)TAAAA reference, missense, utr-variant-5-prime
rs137854590 Granulomatous disease, chronic, X-linked (CGD) 37,793,793(+) ATTTT(A/G)CTCGA reference, missense
rs137854587 Granulomatous disease, chronic, X-linked (CGD) 37,796,092(+) ACACA(C/T)ATCAT reference, missense
rs151344494 Granulomatous disease, chronic, X-linked (CGD) 37,796,141(+) AGCTG(A/T)GTGAG reference, missense
rs137854589 Granulomatous disease, chronic, X-linked (CGD), Granulomatous disease, chronic, X-linked (CGD) 37,799,011(+) AGTTT(A/C/G)TGAAC reference, missense

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

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

MalaCards: The human disease database

(10) 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
  • chronic granulomatous disease
immunodeficiency 34, mycobacteriosis, x-linked
  • atypical mycobacteriosis, familial, x-linked 2
chronic granulomatous disease
  • bridges-good syndrome
x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency
  • x-linked msmd due to cybb deficiency
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- 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. 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 67
  2. Regulation of phagocyte NADPH oxidase by hydrogen peroxide through a Ca(2+)/c-Abl signaling pathway. (PMID: 20043988) El Jamali A. … Clark R.A. (Free Radic. Biol. Med. 2010) 3 23
  3. Role of Nox4 and Nox2 in hyperoxia-induced reactive oxygen species generation and migration of human lung endothelial cells. (PMID: 18783311) Pendyala S. … Natarajan V. (Antioxid. Redox Signal. 2009) 3 23
  4. NADPH oxidase 2 interaction with TLR2 is required for efficient innate immune responses to mycobacteria via cathelicidin expression. (PMID: 19265148) Yang C.S. … Jo E.K. (J. Immunol. 2009) 3 23
  5. Involvement of NADPH oxidase in oxidized LDL-induced upregulation of heat shock factor-1 and plasminogen activator inhibitor-1 in vascular endothelial cells. (PMID: 19401454) Zhao R. … Shen G.X. (Am. J. Physiol. Endocrinol. Metab. 2009) 3 23

Products for CYBB Gene

Sources for CYBB Gene

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