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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 (Cytochrome B-245 Beta Chain) is a Protein Coding gene. Diseases associated with CYBB include Immunodeficiency 34 and Granulomatous Disease, Chronic, X-Linked. Among its related pathways are Cellular Senescence (REACTOME) and Phagosome. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ037780 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 760.8 | +3.7 | 3668 | 9 | L3MBTL2 MAX POLR2A MLLT1 IKZF1 TRIM22 IKZF2 DPF2 EED ELF1 | CYBB XK lnc-CYBB-2 piR-38352-595 ENSG00000250349 | |
GH0XJ037813 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 750.3 | +33.2 | 33155 | 0.1 | CYBB piR-38352-595 ENSG00000250349 | ||
GH0XJ037753 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 16.3 | -20.5 | -20510 | 17.8 | ZNF24 SP1 ZBTB40 SMARCE1 MYC ETV6 MAX TEAD4 MLLT1 CREM | CYBB XK piR-44253-023 piR-36393-543 ENSG00000250349 | |
GH0XJ037817 | Enhancer | 0.6 | ENCODE dbSUPER | 12.8 | +37.8 | 37840 | 1.7 | PKNOX1 NFE2 JUNB PRDM6 NFATC1 | CYBB piR-38352-595 ENSG00000250349 | |
GH0XJ037746 | Enhancer | 1.2 | FANTOM5 ENCODE dbSUPER | 5.9 | -33.6 | -33589 | 1.5 | CTCF MYC ETV6 MAX RAD21 ZNF687 RELA ZBED1 IKZF1 ZIC2 | XK CYBB piR-44253-023 piR-36393-543 ENSG00000250349 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 3305576 |
GO:0009055 | contributes_to electron transfer activity | IDA | 12042318 |
GO:0016175 | superoxide-generating NADPH oxidase activity | IBA,TAS | 12716910 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005635 | nuclear envelope | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005791 | rough endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Class I MHC mediated antigen processing and presentation | ||
3 | Antigen processing-Cross presentation | ||
4 | Signaling by Rho GTPases | ||
5 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0006801 | superoxide metabolic process | TAS | 12716910 |
GO:0006811 | ion transport | IEA | -- |
GO:0006952 | defense response | IBA | 21873635 |
GO:0006954 | inflammatory response | ISS,TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
nadph |
|
53-57-6 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CYBB 33 |
|
OneToOne | |
LOC465566 32 |
|
||||
dog (Canis familiaris) |
Mammalia | NOX2 33 |
|
OneToOne | |
CYBB 32 |
|
||||
cow (Bos Taurus) |
Mammalia | CYBB 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cybb 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CYBB 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CYBB 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Cybb 17 33 32 |
|
||
chicken (Gallus gallus) |
Aves | NOX2 33 |
|
OneToOne | |
CYBB 32 |
|
||||
lizard (Anolis carolinensis) |
Reptilia | CYBB 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cybb 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19943 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cybb 33 32 |
|
OneToOne | |
zgc64144 32 |
|
||||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19230 32 |
|
||
rice (Oryza sativa) |
Liliopsida | Os08g0453700 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
Cin.3138 32 |
|
||||
bread mold (Neurospora crassa) |
Ascomycetes | NCU10775 32 |
|
||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3138 32 |
|
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057521937 | likely-pathogenic, uncertain-significance, not provided, Inborn genetic diseases | 37,805,085(+) | A/T | coding_sequence_variant, missense_variant | |
rs137854585 | pathogenic, not-provided, Granulomatous disease, chronic, X-linked, variant, not provided, Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Granulomatous disease, chronic, X-linked (CGD) [MIM:306400] | 37,805,098(+) | C/A/T | coding_sequence_variant, missense_variant | |
rs137854586 | not-provided, pathogenic, not provided, Granulomatous disease, chronic, X-linked, variant, Granulomatous disease, chronic, X-linked (CGD) [MIM:306400], Granulomatous disease, chronic, X-linked (CGD) [MIM:306400] | 37,805,020(+) | G/A/C | coding_sequence_variant, missense_variant | |
rs137854587 | pathogenic, not-provided, Chronic granulomatous disease, X-linked, not provided, Granulomatous disease, chronic, X-linked (CGD) [MIM:306400] | 37,796,092(+) | C/T | coding_sequence_variant, missense_variant | |
rs137854588 | pathogenic, Chronic granulomatous disease, X-linked, not provided | 37,783,565(+) | C/T | coding_sequence_variant, stop_gained |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3573862 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 34 |
|
|
granulomatous disease, chronic, x-linked |
|
|
chronic granulomatous disease |
|
|
atypical mycobacteriosis, familial |
|
|
human granulocytic anaplasmosis |
|