Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYBB (cytochrome b-245 beta chain)

Identity

Alias_namesCGD
chronic granulomatous disease
cytochrome b-245, beta polypeptide
Alias_symbol (synonym)GP91-PHOX
NOX2
Other aliasAMCBX2
GP91-1
GP91PHOX
IMD34
p91-PHOX
HGNC (Hugo) CYBB
LocusID (NCBI) 1536
Atlas_Id 46322
Location Xp21.1  [Link to chromosome band Xp21]
Location_base_pair Starts at 37780017 and ends at 37813461 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CYBB (Xp11.4) / ADAM10 (15q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CYBB   2578
LRG (Locus Reference Genomic)LRG_53
Cards
Entrez_Gene (NCBI)CYBB  1536  cytochrome b-245 beta chain
AliasesAMCBX2; CGD; GP91-1; GP91-PHOX; 
GP91PHOX; IMD34; NOX2; p91-PHOX
GeneCards (Weizmann)CYBB
Ensembl hg19 (Hinxton)ENSG00000165168 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165168 [Gene_View]  chrX:37780017-37813461 [Contig_View]  CYBB [Vega]
ICGC DataPortalENSG00000165168
TCGA cBioPortalCYBB
AceView (NCBI)CYBB
Genatlas (Paris)CYBB
WikiGenes1536
SOURCE (Princeton)CYBB
Genetics Home Reference (NIH)CYBB
Genomic and cartography
GoldenPath hg38 (UCSC)CYBB  -     chrX:37780017-37813461 +  Xp21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYBB  -     Xp21.1   [Description]    (hg19-Feb_2009)
EnsemblCYBB - Xp21.1 [CytoView hg19]  CYBB - Xp21.1 [CytoView hg38]
Mapping of homologs : NCBICYBB [Mapview hg19]  CYBB [Mapview hg38]
OMIM300481   300645   306400   
Gene and transcription
Genbank (Entrez)AK289753 AK301476 AK301491 AK304033 AK312929
RefSeq transcript (Entrez)NM_000397
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYBB
Cluster EST : UnigeneHs.292356 [ NCBI ]
CGAP (NCI)Hs.292356
Alternative Splicing GalleryENSG00000165168
Gene ExpressionCYBB [ NCBI-GEO ]   CYBB [ EBI - ARRAY_EXPRESS ]   CYBB [ SEEK ]   CYBB [ MEM ]
Gene Expression Viewer (FireBrowse)CYBB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1536
GTEX Portal (Tissue expression)CYBB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04839   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04839  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04839
Splice isoforms : SwissVarP04839
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusP04839
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)   
Domains : Interpro (EBI)Cyt_b245_heavy_chain    FAD-bd_8    Fd_Rdtase_FAD-bd    Fe3_Rdtase_TM_dom    Fe_red_NAD-bd_6    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)FAD_binding_8 (PF08022)    Ferric_reduct (PF01794)    NAD_binding_6 (PF08030)   
Domain families : Pfam (NCBI)pfam08022    pfam01794    pfam08030   
Conserved Domain (NCBI)CYBB
DMDM Disease mutations1536
Blocks (Seattle)CYBB
PDB (SRS)3A1F   
PDB (PDBSum)3A1F   
PDB (IMB)3A1F   
PDB (RSDB)3A1F   
Structural Biology KnowledgeBase3A1F   
SCOP (Structural Classification of Proteins)3A1F   
CATH (Classification of proteins structures)3A1F   
SuperfamilyP04839
Human Protein AtlasENSG00000165168
Peptide AtlasP04839
HPRD02382
IPIIPI00218646   IPI01010560   IPI01015902   
Protein Interaction databases
DIP (DOE-UCLA)P04839
IntAct (EBI)P04839
FunCoupENSG00000165168
BioGRIDCYBB
STRING (EMBL)CYBB
ZODIACCYBB
Ontologies - Pathways
QuickGOP04839
Ontology : AmiGOresponse to reactive oxygen species  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  voltage-gated ion channel activity  protein binding  nuclear envelope  mitochondrion  endoplasmic reticulum membrane  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  superoxide metabolic process  superoxide metabolic process  ion transport  inflammatory response  response to nutrient  electron carrier activity  superoxide-generating NADPH oxidase activity  superoxide-generating NADPH oxidase activity  heme binding  dendrite  phagocytic vesicle membrane  regulation of ion transmembrane transport  specific granule membrane  response to drug  positive regulation of tumor necrosis factor biosynthetic process  superoxide anion generation  superoxide anion generation  NADPH oxidase complex  NADPH oxidase complex  neuronal cell body  neutrophil degranulation  innate immune response  innate immune response  phagocytic vesicle  cell redox homeostasis  respiratory burst  respiratory burst  positive regulation of angiogenesis  metal ion binding  protein heterodimerization activity  vascular endothelial growth factor receptor signaling pathway  perinuclear region of cytoplasm  flavin adenine dinucleotide binding  hydrogen peroxide biosynthetic process  oxidation-reduction process  oxidation-reduction process  tertiary granule membrane  cellular response to cadmium ion  cellular response to ethanol  hypoxia-inducible factor-1alpha signaling pathway  response to aldosterone  cellular response to L-glutamine  response to angiotensin  
Ontology : EGO-EBIresponse to reactive oxygen species  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  voltage-gated ion channel activity  protein binding  nuclear envelope  mitochondrion  endoplasmic reticulum membrane  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  superoxide metabolic process  superoxide metabolic process  ion transport  inflammatory response  response to nutrient  electron carrier activity  superoxide-generating NADPH oxidase activity  superoxide-generating NADPH oxidase activity  heme binding  dendrite  phagocytic vesicle membrane  regulation of ion transmembrane transport  specific granule membrane  response to drug  positive regulation of tumor necrosis factor biosynthetic process  superoxide anion generation  superoxide anion generation  NADPH oxidase complex  NADPH oxidase complex  neuronal cell body  neutrophil degranulation  innate immune response  innate immune response  phagocytic vesicle  cell redox homeostasis  respiratory burst  respiratory burst  positive regulation of angiogenesis  metal ion binding  protein heterodimerization activity  vascular endothelial growth factor receptor signaling pathway  perinuclear region of cytoplasm  flavin adenine dinucleotide binding  hydrogen peroxide biosynthetic process  oxidation-reduction process  oxidation-reduction process  tertiary granule membrane  cellular response to cadmium ion  cellular response to ethanol  hypoxia-inducible factor-1alpha signaling pathway  response to aldosterone  cellular response to L-glutamine  response to angiotensin  
Pathways : KEGGHIF-1 signaling pathway    Phagosome    Osteoclast differentiation    Leukocyte transendothelial migration   
NDEx NetworkCYBB
Atlas of Cancer Signalling NetworkCYBB
Wikipedia pathwaysCYBB
Orthology - Evolution
OrthoDB1536
GeneTree (enSembl)ENSG00000165168
Phylogenetic Trees/Animal Genes : TreeFamCYBB
HOVERGENP04839
HOGENOMP04839
Homologs : HomoloGeneCYBB
Homology/Alignments : Family Browser (UCSC)CYBB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYBB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYBB
dbVarCYBB
ClinVarCYBB
1000_GenomesCYBB 
Exome Variant ServerCYBB
ExAC (Exome Aggregation Consortium)CYBB (select the gene name)
Genetic variants : HAPMAP1536
Genomic Variants (DGV)CYBB [DGVbeta]
DECIPHERCYBB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYBB 
Mutations
ICGC Data PortalCYBB 
TCGA Data PortalCYBB 
Broad Tumor PortalCYBB
OASIS PortalCYBB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYBB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYBB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CYBB
DgiDB (Drug Gene Interaction Database)CYBB
DoCM (Curated mutations)CYBB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYBB (select a term)
intoGenCYBB
Cancer3DCYBB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300481    300645    306400   
Orphanet176    21683   
MedgenCYBB
Genetic Testing Registry CYBB
NextProtP04839 [Medical]
TSGene1536
GENETestsCYBB
Target ValidationCYBB
Huge Navigator CYBB [HugePedia]
snp3D : Map Gene to Disease1536
BioCentury BCIQCYBB
ClinGenCYBB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1536
Chemical/Pharm GKB GenePA27076
Clinical trialCYBB
Miscellaneous
canSAR (ICR)CYBB (select the gene name)
Probes
Litterature
PubMed255 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYBB
EVEXCYBB
GoPubMedCYBB
iHOPCYBB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:59:02 CEST 2017

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