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CYBB Gene

protein-coding   GIFtS: 63
GCID: GC0XP037639

Cytochrome B-245, Beta Polypeptide

(Previous name: chronic granulomatous disease)
(Previous symbol: CGD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome B-245, Beta Polypeptide1 2     AMCBX22 5
CGD1 2 5     Chronic Granulomatous Disease1
Cytochrome B(558) Subunit Beta2 3     GP91-12
Cytochrome B558 Subunit Beta2 3     GP91-PHOX2
Heme-Binding Membrane Glycoprotein Gp91phox2 3     GP91PHOX2
Neutrophil Cytochrome B 91 KDa Polypeptide2 3     Cytochrome B-245 Heavy Chain2
Superoxide-Generating NADPH Oxidase Heavy Chain Subunit2 3     p91-PHOX2
CGD91-phox2 3     EC 1.-.-.-3
NOX22 3     gp91-13
NADPH Oxidase 22 3     gp91-phox3
P22 Phagocyte B-Cytochrome2 3     EC 1.6.38

External Ids:    HGNC: 25781   Entrez Gene: 15362   Ensembl: ENSG000001651687   OMIM: 3004815   UniProtKB: P048393   

Export aliases for CYBB gene to outside databases

Previous GC identifers: GC0XP035744 GC0XP035926 GC0XP036483 GC0XP036670 GC0XP037395 GC0XP037524 GC0XP035383


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chronic granulomatous disease. GO annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX1.

UniProtKB/Swiss-Prot: CY24B_HUMAN, P04839
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

Gene Wiki entry for CYBB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYBB gene promoter:
         PPAR-gamma1   AP-1   ATF-2   STAT3   c-Jun   PPAR-gamma2   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYBB promoter sequence
   Search Chromatin IP Primers for CYBB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYBB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp21.1

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP037639:  view genomic region     (about GC identifiers)

Start:
37,639,264 bp from pter      End:
37,672,714 bp from pter
Size:
33,451 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CY24B_HUMAN, P04839 (See protein sequence)
Recommended Name: Cytochrome b-245 heavy chain  
Size: 570 amino acids; 65336 Da
Cofactor: FAD (Probable)
Subunit: 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)
Sequence caution: Sequence=CAA27635.1; Type=Erroneous initiation; Sequence=CAA29327.1; Type=Erroneous gene model
prediction;
1 PDB 3D structure from and Proteopedia for CYBB:
3A1F (3D)    
Secondary accessions: A8K138 Q2PP16

Explore the universe of human proteins at neXtProt for CYBB: NX_P04839

Explore proteomics data for CYBB at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Phosphorylated on Ser and Thr residues1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for CYBB (P04839)
     GIGVTPF  AFEWFADLL  CLNFNCMLIL  LEWHPFTLTSAP 


    See CYBB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000388.2  
    ENSEMBL proteins: 
     ENSP00000367851   ENSP00000441896   ENSP00000441958  
    Reactome Protein details: P04839

    CYBB Human Recombinant Protein Products:

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    Novus Biologicals CYBB Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    CYBB Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYB: Cytochrome b genes

    Selected InterPro protein domains (see all 6):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR000778 Cyt_b245_heavy_chain
     IPR013121 Fe_red_NAD-bd_6
     IPR013130 Fe3_Rdtase_TM_dom
     IPR013112 FAD-bd_8

    Graphical View of Domain Structure for InterPro Entry P04839

    ProtoNet protein and cluster: P04839

    2 Blocks protein domains:
    IPB000778 Cytochrome B-245 heavy chain signature
    IPB013130 Ferric reductase-like transmembrane component


    UniProtKB/Swiss-Prot: CY24B_HUMAN, P04839
    Similarity: Contains 1 FAD-binding FR-type domain
    Similarity: Contains 1 ferric oxidoreductase domain


    CYBB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CY24B_HUMAN, P04839
    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

         Genatlas biochemistry entry for CYBB:
    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

         Enzyme Numbers (IUBMB): EC 1.6.32 EC 1.-.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005515protein binding IPI3305576
    GO:0009055contributes to electron carrier activity IDA12042318
    GO:0016175superoxide-generating NADPH oxidase activity TAS12716910
    GO:0016491oxidoreductase activity ----
         
    CYBB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CYBB:
     Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cybb):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     renal/urinary system  tumorigenesis 

    CYBB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cybbtm1Din for CYBB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYBB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYBB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYBB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYBB

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CYBB (see all 38):
    hsa-miR-607 hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-372 hsa-miR-3658 hsa-miR-93 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCYBB 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYBB

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CY24B_HUMAN, P04839: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum ----
    GO:0005791rough endoplasmic reticulum IEA--

    CYBB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYBB About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    2CDK-mediated phosphorylation and removal of Cdc6
    Antigen processing-Cross presentation0.80
    Cross-presentation of particulate exogenous antigens (phagosomes)0.00
    3PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    4Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    5Inhibitory action of Lipoxins on Superoxide production in neutrophils
    Inhibitory action of Lipoxins on Superoxide production in neutrophils0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CYBB
        Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes

    4 GeneGo (Thomson Reuters) Pathways for CYBB
        G-protein signaling Rac2 regulation pathway
    Inhibitory action of Lipoxins on Superoxide production in neutrophils
    G-protein signaling RAC1 in cellular process
    Immune response CCR3 signaling in eosinophils

    2 BioSystems Pathways for CYBB
        Type II interferon signaling (IFNG)
    RAC1 signaling pathway

    2 Reactome Pathways for CYBB
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)


    4 Kegg Pathways  (Kegg details for CYBB):
        HIF-1 signaling pathway
    Phagosome
    Osteoclast differentiation
    Leukocyte transendothelial migration


    CYBB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYBB: 
              Oxidative Stress in human mouse rat
              Necrosis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYBB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for CYBB (P048393 ENSP000003678514) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF2P198783, ENSP000003565054I2D: score=3 STRING: ENSP00000356505
    NCF1P145983, ENSP000002894734I2D: score=1 STRING: ENSP00000289473
    ACTG1P632613, ENSP000003315144I2D: score=2 STRING: ENSP00000331514
    CYBAP134983, ENSP000002616234I2D: score=2 STRING: ENSP00000261623
    IQGAP1P469403, ENSP000002681824I2D: score=2 STRING: ENSP00000268182
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0006801superoxide metabolic process TAS12716910
    GO:0006954inflammatory response TAS7719350
    GO:0007584response to nutrient IEA--

    CYBB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYBB (CY24B)

    3 HMDB Compounds for CYBB    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    Selected Novoseek inferred chemical compound relationships for CYBB gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 93 236 16895900 (5), 9794432 (5), 10187835 (5), 8400270 (3) (see all 99)
    superoxide 81.3 58 10092521 (3), 11435314 (2), 16472678 (2), 10673720 (2) (see all 43)
    apocynin 78.1 5 20188821 (2), 20171179 (1)
    diphenyleneiodonium 76.7 1 12480817 (1)
    iodonitrotetrazolium 61 3 15684431 (1), 10498623 (1)
    oxygen 60.8 19 18783311 (3), 11122248 (1), 16895900 (1), 17259440 (1) (see all 16)
    dihydrorhodamine 123 59.7 11 17543165 (1), 19131770 (1), 12589359 (1), 14697745 (1)
    nitroblue tetrazolium 49.3 2 9737693 (1)
    succinylacetone 46.2 1 9933639 (1)
    phorbol-12-myristate 45.7 2 19028840 (1), 10187835 (1)



    CYBB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYBB gene: 
    NM_000397.3  

    Unigene Cluster for CYBB:

    Cytochrome b-245, beta polypeptide
    Hs.292356  [show with all ESTs]
    Unigene Representative Sequence: NM_000397
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378588(uc011mke.1 uc004ddr.2 uc011mkf.1 uc011mkg.1)
    ENST00000492288 ENST00000545017 ENST00000536160
    miRNA
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    hsa-miR-607 hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-372 hsa-miR-3658 hsa-miR-93 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidCYBB 3' UTR sequence
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    Additional mRNA sequence: 

    AK289753.1 AK301476.1 AK301491.1 AK304033.1 AK312929.1 BC032720.1 S67289.1 X04011.1 

    9 DOTS entries:

    DT.452942  DT.100023570  DT.86667935  DT.95243651  DT.40118023  DT.40118024  DT.95231650  DT.91747707 
    DT.97815018 

    Selected AceView cDNA sequences (see all 142):

    AI284069 AI880377 CD370536 AA286677 AA463492 CR601230 AW504422 BX338252 
    CF136693 H72222 BX118931 BI030731 BC032720 AL541407 AA213406 CB154356 
    AW503342 AA904971 BE502434 AI189931 CR622452 AA259056 BI910418 BF902005 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYBB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTGGCTC
    CYBB Expression
    About this image


    CYBB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 6 entries
             Monocytes Peripheral Blood
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    CYBB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYBB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292356

    UniProtKB/Swiss-Prot: CY24B_HUMAN, P04839
    Tissue specificity: Detected in neutrophils (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYBB: 
              Oxidative Stress in human mouse rat
              Necrosis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CYBB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYBB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYBB gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cybb1 , 5 cytochrome b-245, beta polypeptide1, 5 87.6(n)1
    93.16(a)1
      X (4.30 cM)5
    130581  NM_007807.51  NP_031833.31 
     94352525 
    chicken
    (Gallus gallus)
    Aves CYBB1 cytochrome b-245, beta polypeptide 77.89(n)
    84.74(a)
      418581  NM_001100286.1  NP_001093756.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYBB6
    cytochrome b-245, beta polypeptide
    81(a)
    1 ↔ 1
    3(132174279-132227394)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.199432 Xenopus laevis transcribed sequence with moderate similarity more 77.9(n)    CF342089.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641442 hypothetical protein MGC64144 74.74(n)   393386  BC054624.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G192301 AT1G19230 49.13(n)
    39.8(a)
      838506  NM_101781.2  NP_173357.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g04537001 Os08g0453700 51.7(n)
    39.77(a)
      4345742  NM_001068491.1  NP_001061956.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYBB gene
    NOX12  NOX32  NOX42  DUOX22  DUOX12  NOX52  
    3 SIMAP similar genes for CYBB using alignment to 6 protein entries:     CY24B_HUMAN (see all proteins):
    NOX3    NOX1    NOX4

    CYBB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYBB (see all 654)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378545941,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137567823(+) CCTTTC/TATAAA 2 H Y mis10--------
    rs1378545911,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137567824(+) CTTTCA/GTAAAA 2 H R mis10--------
    rs1378545901,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137569593(+) ATTTTA/GCTCGA 2 T A mis10--------
    rs1378545871,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137571892(+) ACACAC/TATCAT 2 H Y mis10--------
    rs1513444601,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 untested137571931(+) CCATCA/C/TATGGA 3 N H Y mis10--------
    rs1378545891,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137574811(+) AGTTTA/C/GTGAAC 3 Y S C mis10--------
    rs1378545951,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137579686(+) TCACTA/CACCCT 2 N H mis10--------
    rs1378545961,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137579690(+) TCACCC/GTTTCA 2 P R mis10--------
    rs1378545861,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137580820(+) TGATGA/C/GGCCCT 3 E A G mis10--------
    rs1378545851,2,,4
    CGranulomatous disease, chronic, X-linked (CGD)4 pathogenic137580898(+) CACACA/C/TCTTCG 3 H P L mis10--------

    HapMap Linkage Disequilibrium report for CYBB (37639264 - 37672714 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CYBB: --
    Human Gene Mutation Database (HGMD): CYBB
    Locus Specific Mutation Databases (LSDB): CYBB

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYBB
    DNA2.0 Custom Variant and Variant Library Synthesis for CYBB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300481   
    OMIM disorders: 306400  300645  
    UniProtKB/Swiss-Prot: CY24B_HUMAN, P04839
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mycobacteriosis atypical X-linked 2 (AMCBX2) [MIM:300645]: A rare condition characterized by
    predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin
    (BCG) vaccine and 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. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • Selected diseases for CYBB (see all 44):    
    About MalaCards
    chronic granulomatous disease, x-linked    chronic granulomatous disease    atypical mycobacteriosis, familial, x-linked 2    chronic granulomatous disease, autosomal, due to deficiency of cyba
    ehrlichiosis    diastolic heart failure    low renin hypertension    hepatopulmonary syndrome
    anoxia    primary ciliary dyskinesia    mediastinitis    ectodermal dysplasia
    sarcoidosis    teratoma    coronary artery disease    retinitis pigmentosa
    vascular disease    hypercholesterolemia    lung cancer susceptibility    retinitis

    1 disease from the University of Copenhagen DISEASES database for CYBB:
    Chronic granulomatous disease

    CYBB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CYBB gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulomatous disease chronic 95.8 87 10452961 (2), 12804147 (2), 15308575 (2), 8611697 (2) (see all 72)
    single gene defects 40.1 1 12201957 (1)
    myeloid leukemia 37.4 5 7759529 (1), 8234321 (1), 9083071 (1), 10187835 (1)
    human granulocytic ehrlichiosis 35.6 2 10754283 (1), 15618156 (1)
    immunodeficiency 35 2 18278805 (1), 18625437 (1)
    genetic disorder 23.6 1 17101097 (1)
    vascular diseases 22.3 1 14678249 (1)
    atherosclerosis 20.2 1 11914250 (1)
    inflammation 15.5 1 15820617 (1)
    necrosis 15.1 6 19714290 (1), 1714908 (1), 14769150 (1), 14967724 (1) (see all 6)

    Genatlas disease: CYBB
    chronic granulomatous disease,X linked

    Genetic Association Database (GAD): CYBB
    Human Genome Epidemiology (HuGE) Navigator: CYBB (11 documents)

    Export disorders for CYBB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYBB gene, integrated from 10 sources (see all 458):
    (articles sorted by number of sources associating them with CYBB)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9111587)1, 2, 9 Jendrossek V.... Gahr M. (Eur. J. Haematol. 1997)
    2. Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. (PubMed id 9888386)1, 2, 9 Patino P.J.... Garcia de Olarte D. (Hum. Mutat. 1999)
    3. CYBB mutation analysis in X-linked chronic granulomatous disease. (PubMed id 12139950)1, 2, 9 Jirapongsananuruk O.... Fleisher T.A. (Clin. Immunol. 2002)
    4. Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway. (PubMed id 10578014)1, 2, 9 Henderson L.M. and Meech R.W. (J. Gen. Physiol. 1999)
    5. Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). (PubMed id 11462241)1, 2, 9 Gerard B.... Chollet-Martin S. (Hum. Mutat. 2001)
    6. Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. (PubMed id 9790760)1, 2, 9 Kumatori A....Nakamura M. (Genomics 1998)
    7. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. (PubMed id 19410294)1, 4, 9 Di Matteo G....Martire B. (Mol. Immunol. 2009)
    8. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (J Negat Results Biomed 2006)
    9. Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. (PubMed id 10914676)1, 2, 9 Ishibashi F.... Kanegasaki S. (Hum. Genet. 2000)
    10. X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. (PubMed id 9585602)1, 2, 9 Rae J.... Curnutte J.T. (Am. J. Hum. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1536 HGNC: 2578 AceView: CYBB Ensembl:ENSG00000165168 euGenes: HUgn1536
    ECgene: CYBB Kegg: 1536 H-InvDB: CYBB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CYBB Pharmacogenomics, SNPs, Pathways
    CYBBbasehttp://bioinf.uta.fi/CYBBbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYBB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYBB gene:
    Search GeneIP for patents involving CYBB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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