Gene
cybb
- ID
- ZDB-GENE-040426-1380
- Name
- cytochrome b-245, beta polypeptide (chronic granulomatous disease)
- Symbol
- cybb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable superoxide-generating NAD(P)H oxidase activity. Predicted to be involved in defense response and superoxide anion generation. Predicted to act upstream of or within monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of NADPH oxidase complex. Predicted to be active in plasma membrane. Is expressed in blood; nervous system; and neutrophil. Human ortholog(s) of this gene implicated in X-linked chronic granulomatous disease; chronic granulomatous disease; and immunodeficiency 34. Orthologous to human CYBB (cytochrome b-245 beta chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64144 (2 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| immunodeficiency 34 | Alliance | Immunodeficiency 34, mycobacteriosis, X-linked | 300645 |
| X-linked chronic granulomatous disease | Alliance | Chronic granulomatous disease, X-linked | 306400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR008333 | Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain |
| Domain | IPR013112 | FAD-binding 8 |
| Domain | IPR013121 | Ferric reductase, NAD binding domain |
| Domain | IPR013130 | Ferric reductase transmembrane component-like domain |
| Domain | IPR017927 | FAD-binding domain, ferredoxin reductase-type |
| Family | IPR000778 | Cytochrome b245, heavy chain |
| Family | IPR050369 | Respiratory burst oxidase/Ferric reductase |
| Homologous_superfamily | IPR017938 | Riboflavin synthase-like beta-barrel |
| Homologous_superfamily | IPR039261 | Ferredoxin-NADP reductase (FNR), nucleotide-binding domain |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cytochrome b245, heavy chain | FAD-binding 8 | FAD-binding domain, ferredoxin reductase-type | Ferredoxin-NADP reductase (FNR), nucleotide-binding domain | Ferric reductase, NAD binding domain | Ferric reductase transmembrane component-like domain | Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain | Respiratory burst oxidase/Ferric reductase | Riboflavin synthase-like beta-barrel |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7T2A7 | InterPro | 565 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available