Cybb cytochrome b-245, beta polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cybbprovided by MGI
Official Full Name: cytochrome b-245, beta polypeptideprovided by MGI
Primary source: MGI:MGI:88574
See related: Ensembl:ENSMUSG00000015340 AllianceGenome:MGI:88574
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cgd; Cyd; Nox2; gp91-1; gp91phox; CGD91-phox
Summary: This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Expression: Biased expression in liver E18 (RPKM 7.0), spleen adult (RPKM 4.7) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 4.3 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (9301493..9354005, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (9435252..9487766, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modulation of NOX2 causes obesity-mediated atrial fibrillation.
Title: Modulation of NOX2 causes obesity-mediated atrial fibrillation.
Eccentric contraction increases hydrogen peroxide levels and alters gene expression through Nox2 in skeletal muscle of male mice.
Title: Eccentric contraction increases hydrogen peroxide levels and alters gene expression through Nox2 in skeletal muscle of male mice.
Tumor necrosis factor alpha induces NOX2-dependent reactive oxygen species production in hypothalamic paraventricular nucleus neurons following angiotensin II infusion.
Title: Tumor necrosis factor alpha induces NOX2-dependent reactive oxygen species production in hypothalamic paraventricular nucleus neurons following angiotensin II infusion.
NADPH oxidase in B cells and macrophages protects against murine lupus by regulation of TLR7.
Title: NADPH oxidase in B cells and macrophages protects against murine lupus by regulation of TLR7.
NADPH oxidase 2 mediates cardiac sympathetic denervation and myocyte autophagy, resulting in cardiac atrophy and dysfunction in doxorubicin-induced cardiomyopathy.
Title: NADPH oxidase 2 mediates cardiac sympathetic denervation and myocyte autophagy, resulting in cardiac atrophy and dysfunction in doxorubicin-induced cardiomyopathy.
Rebalancing NOX2/Nrf2 to limit inflammation and oxidative stress across gut-brain axis in migraine.
Title: Rebalancing NOX2/Nrf2 to limit inflammation and oxidative stress across gut-brain axis in migraine.
High Lethality of Mycobacterium tuberculosis Infection in Mice Lacking the Phagocyte Oxidase and Caspase1/11.
Title: High Lethality of Mycobacterium tuberculosis Infection in Mice Lacking the Phagocyte Oxidase and Caspase1/11.
Complement C3 Enhances LPS-Elicited Neuroinflammation and Neurodegeneration Via the Mac1/NOX2 Pathway.
Title: Complement C3 Enhances LPS-Elicited Neuroinflammation and Neurodegeneration Via the Mac1/NOX2 Pathway.
NAT10 regulates the LPS-induced inflammatory response via the NOX2-ROS-NF-kappaB pathway in macrophages.
Title: NAT10 regulates the LPS-induced inflammatory response via the NOX2-ROS-NF-κB pathway in macrophages.
Chronic Intermittent Hypoxia-Induced Diaphragm Muscle Weakness Is NADPH Oxidase-2 Dependent.
Title: Chronic Intermittent Hypoxia-Induced Diaphragm Muscle Weakness Is NADPH Oxidase-2 Dependent.

Submit: New GeneRIF Correction See all GeneRIFs (334)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (10) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C88302 (e-PCR)
- UniSTS:166169

BB222960 (e-PCR)
- UniSTS:209502

Cybb (e-PCR), detects polymorphism
- UniSTS:141444

Cybb (e-PCR), detects polymorphism
- UniSTS:548035

Cybb (e-PCR), detects polymorphism
- UniSTS:527302

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables electron transfer activity	IEA Inferred from Electronic Annotation more info
contributes_to electron transfer activity	ISO Inferred from Sequence Orthology more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	ISO Inferred from Sequence Orthology more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables heme binding	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables superoxide-generating NAD(P)H oxidase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to superoxide-generating NAD(P)H oxidase activity	ISO Inferred from Sequence Orthology more info
enables superoxide-generating NADPH oxidase activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables voltage-gated proton channel activity	ISS Inferred from Sequence or Structural Similarity 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
acts_upstream_of_or_within hydrogen peroxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypoxia-inducible factor-1alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in hypoxia-inducible factor-1alpha signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	ISO Inferred from Sequence Orthology more info
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 angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in respiratory burst	IEA Inferred from Electronic Annotation more info
involved_in respiratory burst	ISO Inferred from Sequence Orthology more info
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 response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	ISO Inferred from Sequence Orthology more info
involved_in superoxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in superoxide metabolic process	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
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 neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in perinuclear endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in perinuclear endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytochrome b-245 heavy chain

Names: NADPH oxidase 2; cytochrome b558 subunit beta; heme-binding membrane glycoprotein gp91phox; neutrophil cytochrome b 91 kDa polypeptide; p22 phagocyte B-cytochrome

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_007807.5 → NP_031833.3 cytochrome b-245 heavy chain

See identical proteins and their annotated locations for NP_031833.3

Status: REVIEWED

Source sequence(s)

AK152257, AL671864, BY194282

Consensus CDS

CCDS30010.1

UniProtKB/Swiss-Prot

Q61093

UniProtKB/TrEMBL

Q3U4P0, Q3U6G0, Q8C6S5

Related

ENSMUSP00000015484.4, ENSMUST00000015484.10

Conserved Domains (3) summary

cd06186
Location:297 → 570

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:165 → 423

PLN02844; oxidoreductase/ferric-chelate reductase

pfam01794
Location:66 → 219

Ferric_reduct; Ferric reductase like transmembrane component

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

9301493..9354005 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527565.4 → XP_006527628.1 cytochrome b-245 heavy chain isoform X1

See identical proteins and their annotated locations for XP_006527628.1

UniProtKB/Swiss-Prot

Q61093

UniProtKB/TrEMBL

Q3U4P0, Q3U6G0, Q8C6S5

Conserved Domains (3) summary

cd06186
Location:297 → 570

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:165 → 423

PLN02844; oxidoreductase/ferric-chelate reductase

pfam01794
Location:66 → 219

Ferric_reduct; Ferric reductase like transmembrane component