Human Gene CYBB (ENST00000378588.5_5) from GENCODE V47lift37
  Description: cytochrome b-245 beta chain (from RefSeq NM_000397.4)
Gencode Transcript: ENST00000378588.5_5
Gencode Gene: ENSG00000165168.9_9
Transcript (Including UTRs)
   Position: hg19 chrX:37,639,312-37,672,714 Size: 33,403 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:37,639,331-37,670,170 Size: 30,840 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:37,639,312-37,672,714)mRNA (may differ from genome)Protein (570 aa)
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-  Comments and Description Text from UniProtKB
  ID: CY24B_HUMAN
DESCRIPTION: RecName: Full=Cytochrome b-245 heavy chain; EC=1.-.-.-; AltName: Full=CGD91-phox; AltName: Full=Cytochrome b(558) subunit beta; Short=Cytochrome b558 subunit beta; AltName: Full=Heme-binding membrane glycoprotein gp91phox; AltName: Full=NADPH oxidase 2; AltName: Full=Neutrophil cytochrome b 91 kDa polypeptide; AltName: Full=Superoxide-generating NADPH oxidase heavy chain subunit; AltName: Full=gp91-1; AltName: Full=gp91-phox; AltName: Full=p22 phagocyte B-cytochrome;
FUNCTION: Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.
COFACTOR: FAD (Probable).
SUBUNIT: Composed of a heavy chain (beta) and a light chain (alpha). Interacts with calprotectin (S100A8/9).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
PTM: Glycosylated.
DISEASE: Defects in CYBB are a cause of granulomatous disease,chronic, X-linked (CGD) [MIM:306400]. A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life- threatening bacterial/fungal infections.
DISEASE: Defects in CYBB are a cause of mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]. A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections.
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SIMILARITY: Contains 1 ferric oxidoreductase domain.
SEQUENCE CAUTION: Sequence=CAA27635.1; Type=Erroneous initiation; Sequence=CAA29327.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=CYBBbase; Note=CYBB deficiency database; URL="http://bioinf.uta.fi/CYBBbase/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYBB";
WEB RESOURCE: Name=Mendelian genes cytochrome b-245, beta polypeptide (CYBB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/CYBB";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYBB
Diseases sorted by gene-association score: immunodeficiency 34, mycobacteriosis, x-linked* (1550), chronic granulomatous disease, x-linked* (1319), chronic granulomatous disease* (582), familial atypical mycobacteriosis, x-linked, cybb-related* (100), phagocyte bactericidal dysfunction (19), human granulocytic anaplasmosis (11), ornithine transcarbamylase deficiency (9), ehrlichiosis (8), toxic myocarditis (7), suppurative lymphadenitis (6), vascular disease (3), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.80 RPKM in Whole Blood
Total median expression: 267.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00190.000 Picture PostScript Text
3' UTR -634.402544-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000778 - Cyt_b245_heavy_chain
IPR013112 - FAD-bd_8
IPR017927 - Fd_Rdtase_FAD-bd
IPR013130 - Fe3_Rdtase_TM_dom
IPR013121 - Fe_red_NAD-bd_6
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF01794 - Ferric reductase like transmembrane component
PF08022 - FAD-binding domain
PF08030 - Ferric reductase NAD binding domain

SCOP Domains:
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3A1F - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P04839
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005515 protein binding
GO:0016175 superoxide-generating NADPH oxidase activity
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0050660 flavin adenine dinucleotide binding
GO:0009055 electron carrier activity

Biological Process:
GO:0006801 superoxide metabolic process
GO:0006811 ion transport
GO:0006954 inflammatory response
GO:0007584 response to nutrient
GO:0022900 electron transport chain
GO:0034220 ion transmembrane transport
GO:0034599 cellular response to oxidative stress
GO:0034765 regulation of ion transmembrane transport
GO:0042493 response to drug
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process
GO:0042554 superoxide anion generation
GO:0043312 neutrophil degranulation
GO:0045087 innate immune response
GO:0045730 respiratory burst
GO:0045766 positive regulation of angiogenesis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0050665 hydrogen peroxide biosynthetic process
GO:0055114 oxidation-reduction process
GO:0071276 cellular response to cadmium ion
GO:0071361 cellular response to ethanol
GO:0071456 cellular response to hypoxia
GO:0097411 hypoxia-inducible factor-1alpha signaling pathway
GO:1904044 response to aldosterone
GO:1904845 cellular response to L-glutamine
GO:1990776 response to angiotensin

Cellular Component:
GO:0005622 intracellular
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0030670 phagocytic vesicle membrane
GO:0035579 specific granule membrane
GO:0043020 NADPH oxidase complex
GO:0043025 neuronal cell body
GO:0045335 phagocytic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0070821 tertiary granule membrane


-  Descriptions from all associated GenBank mRNAs
  HW061178 - JP 2012529430-A/53: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482138 - Sequence 121 from Patent WO2011072091.
JB251986 - Sequence 53 from Patent EP2440214.
JE980430 - Sequence 121 from Patent EP2862929.
LP764885 - Sequence 53 from Patent EP3276004.
AK289753 - Homo sapiens cDNA FLJ75580 complete cds, highly similar to Homo sapiens cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB), mRNA.
BC032720 - Homo sapiens cytochrome b-245, beta polypeptide, mRNA (cDNA clone MGC:45153 IMAGE:5505170), complete cds.
AK304033 - Homo sapiens cDNA FLJ50359 complete cds, highly similar to Cytochrome b-245 heavy chain.
AK301491 - Homo sapiens cDNA FLJ50260 complete cds, highly similar to Cytochrome b-245 heavy chain.
AK312929 - Homo sapiens cDNA, FLJ93379.
AK301476 - Homo sapiens cDNA FLJ60919 complete cds, highly similar to Cytochrome b-245 heavy chain.
X04011 - Human mRNA of X-CGD gene involved in chronic granulomatous disease located on chromosome X.
DQ894032 - Synthetic construct Homo sapiens clone IMAGE:100008492; FLH166722.01L; RZPDo839C0787D cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB) gene, encodes complete protein.
DQ890878 - Synthetic construct clone IMAGE:100003508; FLH166726.01X; RZPDo839C0788D cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB) gene, encodes complete protein.
KJ891009 - Synthetic construct Homo sapiens clone ccsbBroadEn_00403 CYBB gene, encodes complete protein.
KR710891 - Synthetic construct Homo sapiens clone CCSBHm_00017797 CYBB (CYBB) mRNA, encodes complete protein.
KR710892 - Synthetic construct Homo sapiens clone CCSBHm_00017854 CYBB (CYBB) mRNA, encodes complete protein.
KR710893 - Synthetic construct Homo sapiens clone CCSBHm_00017911 CYBB (CYBB) mRNA, encodes complete protein.
KR710894 - Synthetic construct Homo sapiens clone CCSBHm_00017933 CYBB (CYBB) mRNA, encodes complete protein.
KU178009 - Homo sapiens cytochrome b-245 beta polypeptide isoform 1 (CYBB) mRNA, partial cds.
KU178010 - Homo sapiens cytochrome b-245 beta polypeptide isoform 2 (CYBB) mRNA, complete cds, alternatively spliced.
S67289 - CYBB=cytochrome b558 gp91-phox subunit [human, mRNA Partial Mutant, 102 nt].
CU689504 - Synthetic construct Homo sapiens gateway clone IMAGE:100019889 5' read CYBB mRNA.
JD153888 - Sequence 134912 from Patent EP1572962.
JD390979 - Sequence 372003 from Patent EP1572962.
JD264239 - Sequence 245263 from Patent EP1572962.
JD369414 - Sequence 350438 from Patent EP1572962.
JD154417 - Sequence 135441 from Patent EP1572962.
JD181231 - Sequence 162255 from Patent EP1572962.
JD096297 - Sequence 77321 from Patent EP1572962.
JD314587 - Sequence 295611 from Patent EP1572962.
JD304168 - Sequence 285192 from Patent EP1572962.
JD247700 - Sequence 228724 from Patent EP1572962.
JD243745 - Sequence 224769 from Patent EP1572962.
JD286540 - Sequence 267564 from Patent EP1572962.
JD204380 - Sequence 185404 from Patent EP1572962.
JD170534 - Sequence 151558 from Patent EP1572962.
JD235321 - Sequence 216345 from Patent EP1572962.
JD074328 - Sequence 55352 from Patent EP1572962.
JD486824 - Sequence 467848 from Patent EP1572962.
JD108570 - Sequence 89594 from Patent EP1572962.
JD429574 - Sequence 410598 from Patent EP1572962.
JD078618 - Sequence 59642 from Patent EP1572962.
JD493352 - Sequence 474376 from Patent EP1572962.
JD363987 - Sequence 345011 from Patent EP1572962.
JD353251 - Sequence 334275 from Patent EP1572962.
JD189329 - Sequence 170353 from Patent EP1572962.
JD300398 - Sequence 281422 from Patent EP1572962.
JD535842 - Sequence 516866 from Patent EP1572962.
JD057882 - Sequence 38906 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04839 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-5668605 RAC2:GTP binds NOX2 complex
R-HSA-5218827 NADPH oxidase 2 (NOX2) complex binds RAC1
R-HSA-1222376 NOX2 generates superoxide from oxygen
R-HSA-1236967 Alkalization of the phagosomal lumen by NOX2
R-HSA-6807557 NOX4, NOX5 reduce O2 to O2.-
R-HSA-5668629 Production of phagocyte oxygen radicals by NOX2 complex bound to RAC2:GTP
R-HSA-5218841 NADPH oxidase 2 generates superoxide from oxygen
R-HSA-6798695 Neutrophil degranulation
R-HSA-5668599 RHO GTPases Activate NADPH Oxidases
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-168249 Innate Immune System
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-195258 RHO GTPase Effectors
R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-194138 Signaling by VEGF
R-HSA-168256 Immune System
R-HSA-2262752 Cellular responses to stress
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-162582 Signal Transduction
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1280218 Adaptive Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K138, CY24B_HUMAN, CYBB , ENST00000378588.1, ENST00000378588.2, ENST00000378588.3, ENST00000378588.4, NM_000397, NOX2, P04839, Q2PP16, uc318ojv.1, uc318ojv.2
UCSC ID: ENST00000378588.5_5
RefSeq Accession: NM_000397.4
Protein: P04839 (aka CY24B_HUMAN or C24B_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CYBB:
cgd (Chronic Granulomatous Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.