CYBB - cytochrome b-245 beta chain Gene
Also Known as CGD; CGDX; NOX2; IMD34; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX
Species: Homo sapiens
About CYBB
This gene has 6 transcripts (splice variants), 210 orthologues, 6 paralogues and is associated with 5 phenotypes. Broad expression in appendix (RPKM 106.7), bone marrow (RPKM 63.5) and 15 other tissues.
Summary
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
CYBB Products (2)
| mRNA | Protein | Name |
|---|---|---|
| XM_047441855.1 | XP_047297811.1 | cytochrome b-245 heavy chain isoform X1 |
| NM_000397.4 | NP_000388.2 | cytochrome b-245 heavy chain |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| contributes to electron transfer activity |
IDA
IDA: Inferred from direct assay
|
12042318 | GOA |
| enables flavin adenine dinucleotide binding |
IMP
IMP: Inferred from mutant phenotype
|
9774399 | GOA |
| enables heme binding |
IMP
IMP: Inferred from mutant phenotype
|
9774399 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
3305576 | GOA |
| enables protein heterodimerization activity |
IPI
IPI: Inferred from physical interaction
|
12042318 | GOA |
| contributes to superoxide-generating NAD(P)H oxidase activity |
IDA
IDA: Inferred from direct assay
|
12042318 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in innate immune response |
IMP
IMP: Inferred from mutant phenotype
|
9774399 | GOA |
| involved in respiratory burst |
IMP
IMP: Inferred from mutant phenotype
|
9774399 | GOA |
| involved in superoxide anion generation |
IDA
IDA: Inferred from direct assay
|
12042318 | GOA |
| involved in superoxide metabolic process |
IDA
IDA: Inferred from direct assay
|
12042318 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of NADPH oxidase complex |
IDA
IDA: Inferred from direct assay
|
3305576 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15233623 | GOA |
CYBB Protein Structure
Ferric_reduct: Ferric reductase like transmembrane component (57 - 219)
FAD_binding_8: FAD-binding domain (295 - 394)
NAD_binding_6: Ferric reductase NAD binding domain (401 - 550)
- 0
- 100
- 200
- 300
- 400
- 500
- 570 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cytochrome b-245 heavy chain |
|
|
CYBB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CYBB | P04839 | CYBC1 | Homo sapiens | Q9BQA9 | 32296183 | |
|
Intra
|
CYBB | P04839 | CYBC1 | Homo sapiens | Q9BQA9 | 32296183 | |
|
Intra
|
CYBB | P04839 | CYBC1 | Homo sapiens | Q9BQA9 | 32296183 |
Recombinant CYBB Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72161 | CYBB/Nox2 Protein, Human (His) | P04839 (E283-F570) | ≥ 90%, as determined by reducing SDS-PAGE. |
CYBB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81195 | NOX2 Antibody | WB, ELISA, IHC-P, IHC-F, ICC/IF | Human, Mouse, Rat |
| HY-P86638 | NOX2 Antibody (YA6330) | WB, IP, ELISA | Human, Mouse, Rat |
| HY-P87174 | NOX2 Antibody (YA6865) | WB, IHC-P, IHC-F, ICC/IF, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Malaria |
|
|
| Hypertension, Essential |
|
|
| Splenic Abscess |
|
|
| Tuberculous Salpingitis |
|
|
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
|
| Phagocyte Bactericidal Dysfunction |
|
|
| Gastrointestinal Tularemia |
|
|
| Immunodeficiency 55 |
|
|
| Ehrlichiosis |
|
|
| Immunodeficiency 27b |
|
|
| Ectodermal Dysplasia |
|
|
| Suppurative Lymphadenitis |
|
|
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
|
| Renal Hypertension |
|
|
| X-Linked Recessive Disease |
|
|
| Myocardial Infarction |
|
|
| Immune Deficiency Disease |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Leukocyte Adhesion Deficiency, Type I |
|
|
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
|
| Middle Ear Adenocarcinoma |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Human Granulocytic Anaplasmosis |
|
|
| Cervical Adenitis |
|
|
| Dilated Cardiomyopathy |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Retinitis Pigmentosa |
|
|
| Skin Disease |
|
|
| Renovascular Hypertension |
|
|
| Granulomatous Disease, Chronic, X-Linked |
|
|
| Chronic Granulomatous Disease |
|
|
| Nervous System Disease |
|
|
| Immunodeficiency 34 |
|
|
| Vascular Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | CYBB | VGNC | VGNC:71576 |
| Canis familiaris | CYBB | VGNC | VGNC:50285 |
| Felis catus | CYBB | VGNC | VGNC:61313 |
| Bos taurus | CYBB | VGNC | VGNC:50265 |
| Mus musculus | CYBB | MGD | MGI:88574 |
| Rattus norvegicus | CYBB | RGD | RGD:620574 |
| Others | CYBB | NCBI |