CYBA (cytochrome b-245 alpha chain)

2007-02-01  

Identity

HGNC
LOCATION
16q24.2
LOCUSID
ALIAS
CGD4,p22-PHOX
FUSION GENES

Other Information

Locus ID:

NCBI: 1535
MIM: 608508
HGNC: 2577
Ensembl: ENSG00000051523

Variants:

dbSNP: 1535
ClinVar: 1535
TCGA: ENSG00000051523
COSMIC: CYBA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000051523ENST00000261623P13498
ENSG00000051523ENST00000565588H3BPZ7
ENSG00000051523ENST00000566229H3BT77
ENSG00000051523ENST00000567174H3BNP7
ENSG00000051523ENST00000568278H3BPX1
ENSG00000051523ENST00000569359H3BR52

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Leukocyte transendothelial migrationKEGGko04670
Leukocyte transendothelial migrationKEGGhsa04670
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
Cross-presentation of particulate exogenous antigens (phagosomes)REACTOMER-HSA-1236973
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate NADPH OxidasesREACTOMER-HSA-5668599
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Neutrophil degranulationREACTOMER-HSA-6798695
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD15936011
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD16330681, 19448608, 25823784, 28485375
PA449412doxorubicinChemicalClinicalAnnotation, PathwayassociatedPD16330681, 19448608, 21048526, 25823784, 28485375
PA449961idarubicinChemicalClinicalAnnotationassociatedPD16330681, 19448608, 25823784, 28485375
PA451363simvastatinChemicalClinicalAnnotationassociatedPD15936011

References

Pubmed IDYearTitleCitations
159274472006Functional analysis of Nox4 reveals unique characteristics compared to other NADPH oxidases.290
195745522009Poldip2, a novel regulator of Nox4 and cytoskeletal integrity in vascular smooth muscle cells.190
153220912004Direct interaction of the novel Nox proteins with p22phox is required for the formation of a functionally active NADPH oxidase.181
204950742010Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease.102
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
118937322002Intracellular localization and preassembly of the NADPH oxidase complex in cultured endothelial cells.96
163306812005NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity.96
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162937942006Coronary artery superoxide production and nox isoform expression in human coronary artery disease.83
159942992005Point mutations in the proline-rich region of p22phox are dominant inhibitors of Nox1- and Nox2-dependent reactive oxygen generation.78

Citation

Dessen P

CYBA (cytochrome b-245 alpha chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43882/cyba