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

Gene ID: 1536, updated on 11-Sep-2014
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]
See CYBB in Epigenomics, MapViewer
Location:
Xp21.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (37780017..37813461)
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 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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 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
Tat 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 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-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...
  • 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
  • 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 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)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
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 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
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 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
NADPH oxidase complex IDA
Inferred from Direct Assay
more info
PubMed 
NADPH oxidase complex TAS
Traceable Author Statement
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cytochrome b-245 heavy chain
Names
cytochrome b-245 heavy chain
CGD91-phox
NADPH oxidase 2
p22 phagocyte B-cytochrome
cytochrome b558 subunit beta
cytochrome b(558) subunit beta
neutrophil cytochrome b 91 kDa polypeptide
heme-binding membrane glycoprotein gp91phox
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 

    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 proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    37780017..37813461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    35383460..35418115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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