ENSG00000165168


Homo sapiens

Features
Gene ID: ENSG00000165168
  
Biological name :CYBB
  
Synonyms : CYBB / cytochrome b-245 beta chain / P04839
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p21.1
Gene start: 37780011
Gene end: 37813461
  
Corresponding Affymetrix probe sets: 203922_s_at (Human Genome U133 Plus 2.0 Array)   203923_s_at (Human Genome U133 Plus 2.0 Array)   217431_x_at (Human Genome U133 Plus 2.0 Array)   233538_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367851
NCBI entrez gene - 1536     See in Manteia.
OMIM - 300481
RefSeq - NM_000397
RefSeq Peptide - NP_000388
swissprot - A0A0S2Z3S6
swissprot - P04839
Ensembl - ENSG00000165168
  
Related genetic diseases (OMIM): 300645 - Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  306400 - Chronic granulomatous disease, X-linked, 306400
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cybbENSDARG00000056615Danio rerio
 CYBBENSGALG00000016261Gallus gallus
 CybbENSMUSG00000015340Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NOX3 / Q9HBY0 / NADPH oxidase 3ENSG0000007477159
NOX1 / Q9Y5S8 / NADPH oxidase 1ENSG0000000795258
NOX4 / Q9NPH5 / NADPH oxidase 4ENSG0000008699138
DUOX1 / Q9NRD9 / dual oxidase 1ENSG0000013785729
NOX5 / Q96PH1 / NADPH oxidase 5ENSG0000025534628
DUOX2 / Q9NRD8 / dual oxidase 2ENSG0000014027928


Protein motifs (from Interpro)
Interpro ID Name
 IPR000778  Cytochrome b245, heavy chain
 IPR013112  FAD-binding 8
 IPR013121  Ferric reductase, NAD binding domain
 IPR013130  Ferric reductase transmembrane component-like domain
 IPR017927  Ferredoxin reductase-type FAD-binding domain
 IPR017938  Riboflavin synthase-like beta-barrel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0006801 superoxide metabolic process TAS
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0022900 electron transport chain IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034599 cellular response to oxidative stress TAS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042535 positive regulation of tumor necrosis factor biosynthetic process IEA
 biological_processGO:0042554 superoxide anion generation TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045454 cell redox homeostasis TAS
 biological_processGO:0045730 respiratory burst TAS
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0048010 vascular endothelial growth factor receptor signaling pathway TAS
 biological_processGO:0050665 hydrogen peroxide biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process TAS
 biological_processGO:0071276 cellular response to cadmium ion IEA
 biological_processGO:0071361 cellular response to ethanol IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0097411 hypoxia-inducible factor-1alpha signaling pathway IEA
 biological_processGO:1904044 response to aldosterone IEA
 biological_processGO:1904845 cellular response to L-glutamine IEA
 biological_processGO:1990776 response to angiotensin IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0043020 NADPH oxidase complex TAS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0045335 phagocytic vesicle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0009055 electron transfer activity IDA
 molecular_functionGO:0016175 superoxide-generating NADPH oxidase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0020037 heme binding IMP
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IMP


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Cross-presentation of particulate exogenous antigens (phagosomes)
Detoxification of Reactive Oxygen Species
VEGFA-VEGFR2 Pathway
RHO GTPases Activate NADPH Oxidases
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000230 Gingivitis 
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 HP:0000246 Sinusitis 
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 HP:0000388 Otitis media 
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0000976 Eczematoid dermatitis 
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0001034 Hyperpigmented macules 
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 HP:0001287 Meningitis 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001874 Abnormality of neutrophil 
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 HP:0001945 Fever 
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 HP:0002021 Pyloric stenosis 
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 HP:0002024 Malabsorption 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002575 Tracheoesophageal fistula "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes 
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 HP:0002724 Aspergillus infections 
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 HP:0002726 Staphylococcus aureus infections 
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 HP:0002740 E. coli infections 
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 HP:0002741 Serratia marcescens infections 
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 HP:0002742 Klebsiella infections 
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 HP:0002754 Osteomyelitis 
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 HP:0002840 Lymphadenitis 
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 HP:0002842 Burkholderia cepacia infections 
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 HP:0002955 Tissue biopsy shows granulomas 
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 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test 
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 HP:0003206 Decreased activity of NADPH oxidase 
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 HP:0003514 Deficiency or absence of cytochrome b(-245) 
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 HP:0003621 Juvenile onset 
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 HP:0005224 Rectal abscess 
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 HP:0005406 Recurrent bacterial skin infections 
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 HP:0005428 Severe recurrent varicella 
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0006532 Pneumonia, recurrent episodes 
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 HP:0007417 Discoid lupus erythematosus 
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 HP:0011274 Recurrent mycobacterial infections "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
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 HP:0100523 Liver abscess "The presence of an `abscess` (MPATH:608) of the `liver` (FMA:7197)." [HPO:probinson]
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 HP:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0100658 Cellulitis 
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 HP:0100721 Mediastinal lymphadenopathy 
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 HP:0100806 Sepsis 
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100365 NCF4 / Q15080 / neutrophil cytosolic factor 4  / complex
 ENSG00000158517 NCF1 / P14598 / neutrophil cytosolic factor 1  / complex
 ENSG00000116701 NCF2 / P19878 / neutrophil cytosolic factor 2  / complex
 ENSG00000128340 RAC2 / P15153 / Rac family small GTPase 2  / reaction / complex
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / complex / reaction
 ENSG00000051523 CYBA / P13498 / cytochrome b-245 alpha chain  / complex
 ENSG00000086991 NOX4 / Q9NPH5 / NADPH oxidase 4  / complex






 

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