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

    Gene ID: 1536, updated on 8-Jul-2021

    Summary

    Official Symbol
    CYBBprovided by HGNC
    Official Full Name
    cytochrome b-245 beta chainprovided by HGNC
    Primary source
    HGNC:HGNC:2578
    See related
    Ensembl:ENSG00000165168 MIM:300481
    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; CGDX; 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]
    Expression
    Broad expression in appendix (RPKM 106.7), bone marrow (RPKM 63.5) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CYBB in Genome Data Viewer
    Location:
    Xp21.1-p11.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (37780059..37813461)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37639312..37672714)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene LanC like 3 Neighboring gene H2A.L variant histone 1M, pseudogene Neighboring gene X-linked Kx blood group Neighboring gene dynein light chain Tctex-type 3 Neighboring gene RNA, U6 small nuclear 49, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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: Chronic Granulomatous Disease
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-05-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-27)

    ClinGen Genome Curation Page

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to electron transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heme binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to superoxide-generating NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to L-glutamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypoxia-inducible factor-1alpha signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in respiratory burst TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in superoxide anion generation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in superoxide anion generation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NADPH oxidase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytochrome b-245 heavy chain
    Names
    CGD91-phox
    NADPH oxidase 2
    cytochrome b(558) subunit beta
    cytochrome b-245 beta polypeptide
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000397.4NP_000388.2  cytochrome b-245 heavy chain

      See identical proteins and their annotated locations for NP_000388.2

      Status: REVIEWED

      Source sequence(s)
      BC032720
      Consensus CDS
      CCDS14242.1
      UniProtKB/Swiss-Prot
      P04839
      UniProtKB/TrEMBL
      A0A0S2Z3S6
      Related
      ENSP00000367851.4, ENST00000378588.5
      Conserved Domains (3) 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 ...
      PLN02844
      Location:165423
      PLN02844; oxidoreductase/ferric-chelate reductase
      pfam01794
      Location:66219
      Ferric_reduct; Ferric reductase like transmembrane component

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      37780059..37813461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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