Details for: CYBB

Gene ID: 1536

Symbol: CYBB

Ensembl ID: ENSG00000165168

Description: cytochrome b-245 beta chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.22
    Marker Score: 3681
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 4.75
    Marker Score: 19733
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 3.65
    Marker Score: 3648
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.58
    Marker Score: 200075
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 3.32
    Marker Score: 20144
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 3.22
    Marker Score: 6266
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.15
    Marker Score: 3599
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 2.87
    Marker Score: 1740
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 2.85
    Marker Score: 7102
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.35
    Marker Score: 27294
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.15
    Marker Score: 1068
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.11
    Marker Score: 54099
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.99
    Marker Score: 4807
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.99
    Marker Score: 813
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.95
    Marker Score: 3403
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.9
    Marker Score: 1047
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.8
    Marker Score: 1695
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 1.73
    Marker Score: 599
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.7
    Marker Score: 1727.5
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.68
    Marker Score: 702
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.55
    Marker Score: 4027.5
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.42
    Marker Score: 1073
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.31
    Marker Score: 1295
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 1.29
    Marker Score: 2694
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 847
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 1.24
    Marker Score: 286
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.18
    Marker Score: 709
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.13
    Marker Score: 3361
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 1.11
    Marker Score: 991
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.1
    Marker Score: 1221
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.06
    Marker Score: 521
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.06
    Marker Score: 374
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 1.05
    Marker Score: 639
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.01
    Marker Score: 500
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2032
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71790
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48013
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.98
    Marker Score: 482
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5262.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 369
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.91
    Marker Score: 240
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.87
    Marker Score: 467
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.86
    Marker Score: 372
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.84
    Marker Score: 843
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.82
    Marker Score: 5460
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.82
    Marker Score: 194
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.81
    Marker Score: 476
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 619
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.8
    Marker Score: 192
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.77
    Marker Score: 192
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3167.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 680
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.75
    Marker Score: 748
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1179
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.73
    Marker Score: 538.5
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.72
    Marker Score: 481
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.68
    Marker Score: 817
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.66
    Marker Score: 864
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.66
    Marker Score: 400
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.64
    Marker Score: 765.5
  • Cell Name: colon macrophage (CL0009038)
    Fold Change: 0.63
    Marker Score: 174
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.63
    Marker Score: 838
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: 0.62
    Marker Score: 185
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.62
    Marker Score: 256
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.61
    Marker Score: 424
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.61
    Marker Score: 1110
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 0.61
    Marker Score: 403
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6
    Marker Score: 385
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.56
    Marker Score: 283
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.55
    Marker Score: 144
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.54
    Marker Score: 589
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.54
    Marker Score: 326
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.54
    Marker Score: 348
  • Cell Name: pre-conventional dendritic cell (CL0002010)
    Fold Change: 0.53
    Marker Score: 158
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.53
    Marker Score: 163
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.53
    Marker Score: 500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.51
    Marker Score: 374
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.51
    Marker Score: 174
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.5
    Marker Score: 174
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.48
    Marker Score: 250
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.48
    Marker Score: 539
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.48
    Marker Score: 215
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.45
    Marker Score: 145
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.45
    Marker Score: 284
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.44
    Marker Score: 426
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.44
    Marker Score: 836
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.44
    Marker Score: 157
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.43
    Marker Score: 112

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Other Information

**Key characteristics:** * The CYBB gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of 1,105 amino acids. * The protein is expressed in a variety of cell types, including monocytes, macrophages, dendritic cells, and lymphocytes. * It is a key regulator of the adaptive immune response. **Pathways and functions:** * The CYBB gene is involved in the adaptive immune response. * It is a key component of the antigen processing-cross presentation pathway, which is responsible for the presentation of antigens to T cells. * The protein is also involved in the cross-presentation of particulate exogenous antigens (phagosomes) and the detoxification of reactive oxygen species. * It plays a role in the regulation of inflammation and immune responses to stress. **Clinical significance:** * Mutations in the CYBB gene have been linked to a number of human diseases, including cancer, autoimmune disorders, and inflammatory diseases. * The protein is a target for cancer immunotherapy, and inhibitors of the CYBB protein have been shown to be effective in preclinical models of cancer. * Understanding the role of the CYBB gene in the immune system could lead to the development of new treatments for cancer and other diseases that are characterized by abnormal immune responses.

Genular Protein ID: 3107619328

Symbol: CY24B_HUMAN

Name: Cytochrome b-245 heavy chain

UniProtKB Accession Codes:

P04839 A8K138 Q2PP16

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 20 EMDB 2 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 3 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PeroxiBase 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 9 RefSeq 1 SFLD 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.