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
383557982024Structure of human phagocyte NADPH oxidase in the activated state.4
383557982024Structure of human phagocyte NADPH oxidase in the activated state.4
366066632023Characterization of missense mutations in the NADPH oxidase partner p22(phox) in the A22° subtype of chronic granulomatous disease.0
366265532023ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.2
372888022023CYBA allelic variants are associated with severity and recovery in Guillain-Barré syndrome.0
376437852023CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.0
366066632023Characterization of missense mutations in the NADPH oxidase partner p22(phox) in the A22° subtype of chronic granulomatous disease.0
366265532023ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.2
372888022023CYBA allelic variants are associated with severity and recovery in Guillain-Barré syndrome.0
376437852023CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.0
348253642022Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.2
350734382022Impact of CYBA genotypes on severity and progression of multiple sclerosis.1
364218222022Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.2
348253642022Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.2
350734382022Impact of CYBA genotypes on severity and progression of multiple sclerosis.1

Citation

Dessen P

CYBA (cytochrome b-245 alpha chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43882/teaching-explorer/favicon/tumors-explorer/