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    CYBB cytochrome b-245, beta polypeptide [ Homo sapiens (human) ]

    Gene ID: 1536, updated on 26-Jul-2015
    Official Symbol
    CYBBprovided by HGNC
    Official Full Name
    cytochrome b-245, beta polypeptideprovided by HGNC
    Primary source
    HGNC:HGNC:2578
    See related
    Ensembl:ENSG00000165168; HPRD:02382; MIM:300481; Vega:OTTHUMG00000033175
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGD; NOX2; IMD34; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX
    Summary
    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]
    Orthologs
    See CYBB in Epigenomics, MapViewer
    Location:
    Xp21.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (37780017..37813465)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37639266..37672718)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene LanC lantibiotic synthetase component C-like 3 (bacterial) Neighboring gene X-linked Kx blood group Neighboring gene dynein, light chain, Tctex-type 3 Neighboring gene synaptotagmin-like 5 Neighboring gene sterol-C4-methyl oxidase pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atypical mycobacteriosis, familial, X-linked 2
    MedGen: C1970859 OMIM: 300645 GeneReviews: Not available
    Compare labs
    Chronic granulomatous disease, X-linked
    MedGen: C1844376 OMIM: 306400 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

    ClinGen Genome Curation Page

    Replication interactions

    Interaction Pubs
    Knockdown of cytochrome b-245, beta polypeptide (CYBB) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Knockdown of NOX2 and NOX4 by siRNA abrogates HIV-1 gp120-induced reactive oxygen species (ROS), suggesting that NOX2 and NOX4 are involved in ROS production through CYP2E1 in astrocytes PubMed
    env Inhibition of NRF2 by siRNA results in increased NOX2, NFkappaB (p65/p50), TNF-alpha, and MMP-9 proteins in astrocytes exposed to HIV-1 gp120 PubMed
    Nef nef NADPH oxidase is required for HIV-1 Nef-induced ROS production and endothelial apoptosis in human coronary arterial endothelial cells PubMed
    Tat tat HIV-1 Tat C downregulates the expression of miR-17 to increase the expression of NOX2 and NOX4; overexpression of miR-17 inhibits NOX2 and NOX4 expression in human microglial cells PubMed
    tat HIV-1 Tat C upregulates NOX2 and NOX4 expression and increases ROS production in human brain cells PubMed
    tat Knocking down Nox2 by siRNA blocks HIV-1 Tat-induced reactive oxygen species (ROS) production, increase of NADPH oxidase activity, and Rac1 activation PubMed
    tat HIV-1 Tat downregulates the expression of cytochrome b-245, beta polypeptide (CYBB; NOX2) in human primary T cells PubMed
    tat Knocking down Nox2 by siRNA decreases HIV-1 Tat-induced NF-KappaB activation as well as activation of MAP kinases including ERK, JNK, and p38 PubMed
    tat Knocking down oxidase Nox2 blocks Tat-induced cytoskeletal rearrangement PubMed
    tat HIV-1 Tat-induced up-regulation of VCAM-1/ICAM-1 is blocked by NADPH oxidase (NOX2) inhibitor PubMed
    tat HIV-1 Tat-induced glutamate release is mediated through p38 and p42/44 MAPK and through NADPH oxidase and the x(c)(-) cystine-glutamate antiporter (xCT) PubMed
    tat Nox2 is involved in HIV-1 Tat-induced NADPH oxidase p65 and IKK phosphorylation PubMed
    capsid gag HIV-1 Capsid (p24) inhibits interferon gamma induced increases in HLA-DR and cytochrome B heavy chain mRNA levels in the human monocyte-like cell line THP1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
      Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystem (from REACTOME)
      Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystemDendritic cells (DCs) take up and process exogenous particulate or cell-associated antigens such as microbes or tumor cells for MHC-I cross-presentation. Particulate antigens have been reported to be...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystem (from REACTOME)
      Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystemInfection by Mycobacterium tuberculosis (Mtb) is soon countered by the host's immune system, the organism is however almost never eradicated; ten per cent of infections will develop into "open tuberc...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Phagosomal maturation (early endosomal stage), organism-specific biosystem (from REACTOME)
      Phagosomal maturation (early endosomal stage), organism-specific biosystemAlveolar macrophages normally develop their phagosome along the endolysosomal pathway. However, after having internalized Mtb, this development is arrested at an early stage and only includes acidifi...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RAC1 signaling pathway, organism-specific biosystem
      RAC1 signaling pathway
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate NADPH Oxidases, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate NADPH Oxidases, organism-specific biosystemNADPH oxidases (NOX) are membrane-associated enzymatic complexes that use NADPH as an electon donor to reduce oxygen and produce superoxide (O2-) that serves as a secondary messenger (Brown and Grien...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
      Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to electron carrier activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    flavin adenine dinucleotide binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heme binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to superoxide-generating NADPH oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide-generating NADPH oxidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    interaction with host TAS
    Traceable Author Statement
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    PubMed 
    phagosome maturation TAS
    Traceable Author Statement
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    respiratory burst TAS
    Traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    superoxide anion generation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide anion generation TAS
    Traceable Author Statement
    more info
    PubMed 
    superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NADPH oxidase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cytochrome b-245 heavy chain
    Names
    CGD91-phox
    NADPH oxidase 2
    cytochrome b(558) subunit beta
    cytochrome b558 subunit beta
    heme-binding membrane glycoprotein gp91phox
    neutrophil cytochrome b 91 kDa polypeptide
    p22 phagocyte B-cytochrome
    superoxide-generating NADPH oxidase heavy chain subunit

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009065.1 RefSeqGene

      Range
      5001..38445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_53

    mRNA and Protein(s)

    1. NM_000397.3NP_000388.2  cytochrome b-245 heavy chain

      See identical proteins and their annotated locations for NP_000388.2

      Status: REVIEWED

      Source sequence(s)
      BC032720, DA995835
      Consensus CDS
      CCDS14242.1
      UniProtKB/Swiss-Prot
      P04839
      Related
      ENSP00000367851, OTTHUMP00000031915, ENST00000378588, OTTHUMT00000080881
      Conserved Domains (2) summary
      cd06186
      Location:297570
      NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...
      pfam01794
      Location:65220
      Ferric_reduct; Ferric reductase like transmembrane component

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      37780017..37813465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543890.1XP_011542192.1  

      See identical proteins and their annotated locations for XP_011542192.1

      Conserved Domains (2) summary
      cd06186
      Location:195468
      NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...
      pfam01794
      Location:1118
      Ferric_reduct; Ferric reductase like transmembrane component

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      37670409..37703853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)