CYBA (cytochrome b-245 alpha chain)

2007-02-01  

Identity

HGNC
CYBA
LOCATION
16q24.2
LOCUSID
1535
ALIAS
CGD4,p22-PHOX
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/deep-insight-explorer/teaching-explorer/js/lib/zoomerang.js