CYBB | ENSG00000165168 | NCBI 1536

Details for: CYBB

Gene ID: 1536

Symbol: CYBB

Ensembl ID: ENSG00000165168

Description: cytochrome b-245 beta chain

Associated with

Adaptive immune system
(R-HSA-1280218)
Antigen processing-cross presentation
(R-HSA-1236975)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to chemical stress
(R-HSA-9711123)
Class i mhc mediated antigen processing & presentation
(R-HSA-983169)
Cross-presentation of particulate exogenous antigens (phagosomes)
(R-HSA-1236973)
Detoxification of reactive oxygen species
(R-HSA-3299685)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Neutrophil degranulation
(R-HSA-6798695)
Rac1 gtpase cycle
(R-HSA-9013149)
Rac2 gtpase cycle
(R-HSA-9013404)
Rac3 gtpase cycle
(R-HSA-9013423)
Rho gtpase cycle
(R-HSA-9012999)
Rho gtpase effectors
(R-HSA-195258)
Rho gtpases activate nadph oxidases
(R-HSA-5668599)
Ros and rns production in phagocytes
(R-HSA-1222556)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signaling by vegf
(R-HSA-194138)
Signal transduction
(R-HSA-162582)
Vegfa-vegfr2 pathway
(R-HSA-4420097)
Cellular response to cadmium ion
(GO:0071276)
Cellular response to ethanol
(GO:0071361)
Cellular response to l-glutamine
(GO:1904845)
Defense response
(GO:0006952)
Dendrite
(GO:0030425)
Electron transfer activity
(GO:0009055)
Endoplasmic reticulum membrane
(GO:0005789)
Flavin adenine dinucleotide binding
(GO:0050660)
Heme binding
(GO:0020037)
Hydrogen peroxide biosynthetic process
(GO:0050665)
Hypoxia-inducible factor-1alpha signaling pathway
(GO:0097411)
Inflammatory response
(GO:0006954)
Innate immune response
(GO:0045087)
Metal ion binding
(GO:0046872)
Monoatomic ion channel complex
(GO:0034702)
Monoatomic ion transmembrane transport
(GO:0034220)
Nadph oxidase complex
(GO:0043020)
Neuronal cell body
(GO:0043025)
Nuclear envelope
(GO:0005635)
Perinuclear endoplasmic reticulum
(GO:0097038)
Phagocytic vesicle membrane
(GO:0030670)
Plasma membrane
(GO:0005886)
Positive regulation of angiogenesis
(GO:0045766)
Positive regulation of tumor necrosis factor production
(GO:0032760)
Protein binding
(GO:0005515)
Protein heterodimerization activity
(GO:0046982)
Respiratory burst
(GO:0045730)
Response to aldosterone
(GO:1904044)
Response to angiotensin
(GO:1990776)
Response to nutrient
(GO:0007584)
Response to xenobiotic stimulus
(GO:0009410)
Specific granule membrane
(GO:0035579)
Superoxide-generating nad(p)h oxidase activity
(GO:0016175)
Superoxide anion generation
(GO:0042554)
Superoxide metabolic process
(GO:0006801)
Tertiary granule membrane
(GO:0070821)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 96.8850
Cell Significance Index: -15.0700
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 62.1345
Cell Significance Index: -15.7600
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 46.3007
Cell Significance Index: -18.8100
Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 39.4646
Cell Significance Index: -20.3000
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 20.2306
Cell Significance Index: -19.3200
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 12.4254
Cell Significance Index: -15.3200
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 9.8022
Cell Significance Index: 181.1700
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 6.0957
Cell Significance Index: 94.3100
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 3.9913
Cell Significance Index: -15.7500
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.9071
Cell Significance Index: 106.9800
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.8506
Cell Significance Index: 3.5400
Cell Name: late promyelocyte (CL0002151)
Fold Change: 0.8471
Cell Significance Index: 5.6200
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.3769
Cell Significance Index: 71.7300
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.2864
Cell Significance Index: 7.6600
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.1667
Cell Significance Index: 150.5000
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0874
Cell Significance Index: 8.6500
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.0610
Cell Significance Index: 9.9200
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0532
Cell Significance Index: 33.2000
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.0308
Cell Significance Index: 0.7700
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0237
Cell Significance Index: 4.7500
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0182
Cell Significance Index: 6.5500
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: -0.0048
Cell Significance Index: -0.5200
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0068
Cell Significance Index: -5.0700
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0077
Cell Significance Index: -14.4600
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0102
Cell Significance Index: -5.7400
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0123
Cell Significance Index: -1.2600
Cell Name: hematopoietic cell (CL0000988)
Fold Change: -0.0171
Cell Significance Index: -0.2500
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0172
Cell Significance Index: -13.0400
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0208
Cell Significance Index: -0.6000
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0264
Cell Significance Index: -14.4000
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0269
Cell Significance Index: -19.7000
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0308
Cell Significance Index: -19.5900
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0319
Cell Significance Index: -1.1200
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0349
Cell Significance Index: -7.3600
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0355
Cell Significance Index: -15.6900
Cell Name: myeloid cell (CL0000763)
Fold Change: -0.0369
Cell Significance Index: -0.4900
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: -0.0383
Cell Significance Index: -0.3100
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0497
Cell Significance Index: -8.4800
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0501
Cell Significance Index: -22.7500
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0511
Cell Significance Index: -3.1400
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0535
Cell Significance Index: -15.3900
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.0800
Cell Significance Index: -9.1400
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0807
Cell Significance Index: -14.5400
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0845
Cell Significance Index: -6.4900
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0865
Cell Significance Index: -10.0800
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: -0.0875
Cell Significance Index: -1.7100
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.0877
Cell Significance Index: -1.9000
Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.0898
Cell Significance Index: -5.3900
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1033
Cell Significance Index: -14.1800
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1339
Cell Significance Index: -19.4700
Cell Name: odontoblast (CL0000060)
Fold Change: -0.1339
Cell Significance Index: -17.1700
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.1344
Cell Significance Index: -16.5200
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1399
Cell Significance Index: -14.5700
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1414
Cell Significance Index: -6.4100
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: -0.1443
Cell Significance Index: -1.2200
Cell Name: lactocyte (CL0002325)
Fold Change: -0.1480
Cell Significance Index: -19.1200
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.1544
Cell Significance Index: -10.6800
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1838
Cell Significance Index: -21.0600
Cell Name: Hofbauer cell (CL3000001)
Fold Change: -0.1864
Cell Significance Index: -1.5200
Cell Name: leukocyte (CL0000738)
Fold Change: -0.1990
Cell Significance Index: -3.3800
Cell Name: macrophage (CL0000235)
Fold Change: -0.2096
Cell Significance Index: -2.1400
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.2115
Cell Significance Index: -9.9400
Cell Name: Kupffer cell (CL0000091)
Fold Change: -0.2142
Cell Significance Index: -1.9600
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.2157
Cell Significance Index: -3.2500
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.2166
Cell Significance Index: -9.4200
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.2180
Cell Significance Index: -15.4200
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.2292
Cell Significance Index: -14.7900
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.2393
Cell Significance Index: -4.9700
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2546
Cell Significance Index: -15.6500
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2557
Cell Significance Index: -19.0600
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.2679
Cell Significance Index: -6.4900
Cell Name: alveolar macrophage (CL0000583)
Fold Change: -0.2690
Cell Significance Index: -2.3700
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: -0.2718
Cell Significance Index: -3.2700
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.2803
Cell Significance Index: -14.5600
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: -0.2894
Cell Significance Index: -3.5800
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.2909
Cell Significance Index: -15.1500
Cell Name: elicited macrophage (CL0000861)
Fold Change: -0.2963
Cell Significance Index: -2.5900
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.3019
Cell Significance Index: -19.0300
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.3094
Cell Significance Index: -17.3600
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.3283
Cell Significance Index: -16.5900
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.3295
Cell Significance Index: -17.3000
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.3391
Cell Significance Index: -15.0000
Cell Name: centroblast (CL0009112)
Fold Change: -0.3515
Cell Significance Index: -0.8200
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.3545
Cell Significance Index: -12.4200
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.3813
Cell Significance Index: -14.4400
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3856
Cell Significance Index: -12.2800
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.3956
Cell Significance Index: -8.4300
Cell Name: classical monocyte (CL0000860)
Fold Change: -0.3963
Cell Significance Index: -3.6900
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4093
Cell Significance Index: -13.4000
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.4173
Cell Significance Index: -13.3700
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.4294
Cell Significance Index: -20.0200
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.4944
Cell Significance Index: -13.2000
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.4985
Cell Significance Index: -18.3000
Cell Name: microglial cell (CL0000129)
Fold Change: -0.5184
Cell Significance Index: -6.1000
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.5260
Cell Significance Index: -13.1200
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.5525
Cell Significance Index: -14.8100
Cell Name: pro-T cell (CL0000827)
Fold Change: -0.5858
Cell Significance Index: -14.9700
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.6031
Cell Significance Index: -13.0300
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.6043
Cell Significance Index: -15.8900
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.6297
Cell Significance Index: -25.8000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** The CYBB gene is a single-copy gene that is encoded in humans and is highly conserved across species. It is a member of the cytochrome b-245 family, which is characterized by the presence of a flavin adenine dinucleotide (FAD) cofactor and a heme group. The CYBB gene is expressed in cells of the myeloid lineage, including monocytes, macrophages, and dendritic cells, and is involved in the production of superoxides in response to various stimuli. The CYBB gene is also notable for its ability to interact with other genes and proteins involved in immune responses, including the Rho GTPase family and the Ras superfamily of GTPases. These interactions are essential for the regulation of the NADPH oxidase complex and the production of superoxides in response to various stimuli. **Pathways and Functions** The CYBB gene is involved in several cellular pathways, including: 1. **Adaptive Immune System**: The CYBB gene is involved in the adaptive immune response, particularly in the activation of T cells and the production of cytokines. 2. **Antigen Processing-Cross Presentation**: The CYBB gene is involved in the processing and presentation of antigens to T cells, which is essential for the activation of the adaptive immune response. 3. **Cellular Responses to Stimuli**: The CYBB gene is involved in the production of superoxides in response to various stimuli, including bacterial pathogens and oxidative stress. 4. **Cellular Responses to Stress**: The CYBB gene is involved in the regulation of cellular responses to stress, including heat shock and oxidative stress. 5. **Detoxification of Reactive Oxygen Species**: The CYBB gene is involved in the detoxification of reactive oxygen species, which is essential for the protection of cells from oxidative damage. **Clinical Significance** The CYBB gene has been implicated in several diseases, including: 1. **Chronic Granulomatous Disease (CGD)**: CGD is a rare genetic disorder caused by mutations in the CYBB gene, which leads to impaired production of superoxides in phagocytic cells. 2. **Leukocyte Adhesion Deficiency (LAD)**: LAD is a rare genetic disorder caused by mutations in the CYBB gene, which leads to impaired adhesion of leukocytes to the endothelium. 3. **Immunodeficiency Disorders**: Mutations in the CYBB gene have been implicated in various immunodeficiency disorders, including severe combined immunodeficiency (SCID) and chronic lymphocytic leukemia (CLL). In conclusion, the CYBB gene plays a crucial role in the functioning of phagocytic cells and is involved in various cellular pathways, including immune responses, cellular stress responses, and detoxification of reactive oxygen species. Mutations in the CYBB gene have been implicated in several diseases, including CGD, LAD, and immunodeficiency disorders.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Cytochrome b-245 heavy chain

Genular Protein ID: 3107619328

Symbol: CY24B_HUMAN

Name: Cytochrome b-245 heavy chain

UniProtKB Accession Codes:

P04839 A8K138 Q2PP16

Database IDs:

Citations:

PubMed ID: 12139950

Title: CYBB mutation analysis in X-linked chronic granulomatous disease.

PubMed ID: 12139950

DOI: 10.1006/clim.2002.5230

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2425263

Title: Cloning the gene for an inherited human disorder -- chronic granulomatous disease -- on the basis of its chromosomal location.

PubMed ID: 2425263

DOI: 10.1038/322032a0

PubMed ID: 3600768

Title: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.

PubMed ID: 3600768

DOI: 10.1038/327717a0

PubMed ID: 9790760

Title: Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.

PubMed ID: 9790760

DOI: 10.1006/geno.1998.5510

PubMed ID: 3600769

Title: The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.

PubMed ID: 3600769

DOI: 10.1038/327720a0

PubMed ID: 10578014

Title: Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway.

PubMed ID: 10578014

DOI: 10.1085/jgp.114.6.771

PubMed ID: 19028840

Title: Regulation of the phagocyte NADPH oxidase activity: phosphorylation of gp91phox/NOX2 by protein kinase C enhances its diaphorase activity and binding to Rac2, p67phox, and p47phox.

PubMed ID: 19028840

DOI: 10.1096/fj.08-114553

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28351984

Title: Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.

PubMed ID: 28351984

DOI: 10.1084/jem.20161382

PubMed ID: 9224653

Title: Interaction of human neutrophil flavocytochrome b with cytosolic proteins: transferred-NOESY NMR studies of a gp91phox C-terminal peptide bound to p47phox.

PubMed ID: 9224653

DOI: 10.1042/bj3250249

PubMed ID: 2556453

Title: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

PubMed ID: 2556453

DOI: 10.1172/jci114393

PubMed ID: 1710153

Title: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

PubMed ID: 1710153

PubMed ID: 8101486

Title: A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

PubMed ID: 8101486

DOI: 10.1007/bf01955051

PubMed ID: 7927345

Title: Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.

PubMed ID: 7927345

DOI: 10.1007/bf00201609

PubMed ID: 8182143

Title: A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

PubMed ID: 8182143

DOI: 10.1172/jci117207

PubMed ID: 8916969

Title: Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

PubMed ID: 8916969

PubMed ID: 9111587

Title: An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

PubMed ID: 9111587

DOI: 10.1111/j.1600-0609.1997.tb00928.x

PubMed ID: 9585602

Title: X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

PubMed ID: 9585602

DOI: 10.1086/301874

PubMed ID: 9856476

Title: A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.

PubMed ID: 9856476

DOI: 10.1007/s004390050836

PubMed ID: 9794433

Title: Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.

PubMed ID: 9794433

PubMed ID: 9667376

Title: Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.

PubMed ID: 9667376

DOI: 10.1203/00006450-199807000-00014

PubMed ID: 10089913

Title: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.

PubMed ID: 10089913

DOI: 10.1016/s0301-472x(98)00024-1

PubMed ID: 9888386

Title: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

PubMed ID: 9888386

DOI: 10.1002/(sici)1098-1004(1999)13:1<29::aid-humu3>3.0.co;2-x

PubMed ID: 10914676

Title: Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

PubMed ID: 10914676

DOI: 10.1007/s004390000288

PubMed ID: 11462241

Title: Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

PubMed ID: 11462241

DOI: 10.1002/humu.1166

PubMed ID: 11997083

Title: Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

PubMed ID: 11997083

DOI: 10.1016/s0925-4439(01)00110-7

PubMed ID: 15338276

Title: Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

PubMed ID: 15338276

DOI: 10.1007/s00439-004-1173-z

PubMed ID: 18773283

Title: First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.

PubMed ID: 18773283

DOI: 10.1007/s10875-008-9243-y

PubMed ID: 21278736

Title: Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

PubMed ID: 21278736

DOI: 10.1038/ni.1992

PubMed ID: 22125116

Title: Identification and functional characterization of two novel mutations in the alpha-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.

PubMed ID: 22125116

DOI: 10.1002/humu.22003

PubMed ID: 23910690

Title: Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

PubMed ID: 23910690

DOI: 10.1016/j.jaci.2013.05.039

PubMed ID: 27666509

Title: A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.

PubMed ID: 27666509

DOI: 10.1016/j.micpath.2016.09.020

Sequence Information:

Length: 570
Mass: 65336
Checksum: 7E84051BD4000CE3
Sequence:

MGNWAVNEGL SIFVILVWLG LNVFLFVWYY RVYDIPPKFF YTRKLLGSAL ALARAPAACL 
NFNCMLILLP VCRNLLSFLR GSSACCSTRV RRQLDRNLTF HKMVAWMIAL HSAIHTIAHL 
FNVEWCVNAR VNNSDPYSVA LSELGDRQNE SYLNFARKRI KNPEGGLYLA VTLLAGITGV 
VITLCLILII TSSTKTIRRS YFEVFWYTHH LFVIFFIGLA IHGAERIVRG QTAESLAVHN 
ITVCEQKISE WGKIKECPIP QFAGNPPMTW KWIVGPMFLY LCERLVRFWR SQQKVVITKV 
VTHPFKTIEL QMKKKGFKME VGQYIFVKCP KVSKLEWHPF TLTSAPEEDF FSIHIRIVGD 
WTEGLFNACG CDKQEFQDAW KLPKIAVDGP FGTASEDVFS YEVVMLVGAG IGVTPFASIL 
KSVWYKYCNN ATNLKLKKIY FYWLCRDTHA FEWFADLLQL LESQMQERNN AGFLSYNIYL 
TGWDESQANH FAVHHDEEKD VITGLKQKTL YGRPNWDNEF KTIASQHPNT RIGVFLCGPE 
ALAETLSKQS ISNSESGPRG VHFIFNKENF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CYBB

Associated with

Cells (max top 100)

Other Information

CYBB mutation analysis in X-linked chronic granulomatous disease. PubMed ID: 12139950

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Cloning the gene for an inherited human disorder -- chronic granulomatous disease -- on the basis of its chromosomal location. PubMed ID: 2425263

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. PubMed ID: 3600768

Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. PubMed ID: 9790760

The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. PubMed ID: 3600769

Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway. PubMed ID: 10578014

Regulation of the phagocyte NADPH oxidase activity: phosphorylation of gp91phox/NOX2 by protein kinase C enhances its diaphorase activity and binding to Rac2, p67phox, and p47phox. PubMed ID: 19028840

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity. PubMed ID: 28351984

Interaction of human neutrophil flavocytochrome b with cytosolic proteins: transferred-NOESY NMR studies of a gp91phox C-terminal peptide bound to p47phox. PubMed ID: 9224653

A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. PubMed ID: 2556453

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. PubMed ID: 1710153

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. PubMed ID: 8101486

Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. PubMed ID: 7927345

A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. PubMed ID: 8182143

Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. PubMed ID: 8916969

An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity. PubMed ID: 9111587

X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. PubMed ID: 9585602

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease. PubMed ID: 9856476

Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. PubMed ID: 9794433

Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. PubMed ID: 9667376

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. PubMed ID: 10089913

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. PubMed ID: 9888386

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. PubMed ID: 10914676

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). PubMed ID: 11462241

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. PubMed ID: 11997083

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. PubMed ID: 15338276

First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. PubMed ID: 18773283

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. PubMed ID: 21278736

Identification and functional characterization of two novel mutations in the alpha-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease. PubMed ID: 22125116

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. PubMed ID: 23910690

A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. PubMed ID: 27666509