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

Gene ID: 1536, updated on 10-Oct-2024

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; AllianceGenome:HGNC:2578
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
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Genomic context

See CYBB in Genome Data Viewer
Location:
Xp21.1-p11.4
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (37780059..37813461)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37183630..37217034)
RS_2024_09 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 family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37544835-37545346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37545347-37545856 Neighboring gene H2A.L variant histone 1M, pseudogene Neighboring gene X-linked Kx blood group antigen, Kell and VPS13A binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20733 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 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

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

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 
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
 
involved_in hydrogen peroxide biosynthetic process 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 monoatomic 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 respiratory burst IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in respiratory burst NAS
Non-traceable Author Statement
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 nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
 
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
part_of NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of NADPH oxidase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of NADPH oxidase complex NAS
Non-traceable Author Statement
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
 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 
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
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
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
    A8K138, P04839, Q2PP16
    UniProtKB/TrEMBL
    A0A0S2Z3S6, A0A8Q3SIJ1
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047441855.1XP_047297811.1  cytochrome b-245 heavy chain isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    37183630..37217034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326527.1XP_054182502.1  cytochrome b-245 heavy chain isoform X1