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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 ar... See more...
Aliases for CYBB Gene
Aliases for CYBB Gene
- Cytochrome B-245 Beta Chain 2 3 5
- NADPH Oxidase 2 2 3 4
- NOX2 2 3 4
- Superoxide-Generating NADPH Oxidase Heavy Chain Subunit 3 4
- Heme-Binding Membrane Glycoprotein Gp91phox 3 4
- Neutrophil Cytochrome B 91 KDa Polypeptide 3 4
- Cytochrome B(558) Subunit Beta 3 4
- Cytochrome B-245 Heavy Chain 3 4
- Cytochrome B558 Subunit Beta 3 4
- P22 Phagocyte B-Cytochrome 3 4
- CGD91-Phox 3 4
- GP91-PHOX 2 3
- Cytochrome B-245, Beta Polypeptide 2
External Ids for CYBB Gene
- HGNC: 2578
- NCBI Entrez Gene: 1536
- Ensembl: ENSG00000165168
- OMIM®: 300481
- UniProtKB/Swiss-Prot: P04839
Previous HGNC Symbols for CYBB Gene
- CGD
Previous GeneCards Identifiers for CYBB Gene
- GC0XP035744
- GC0XP035926
- GC0XP036483
- GC0XP036670
- GC0XP037395
- GC0XP037524
- GC0XP037639
- GC0XP035383
Summaries for CYBB Gene
-
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]
GeneCards Summary for CYBB Gene
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 Signaling by GPCR and Detoxification of Reactive Oxygen Species. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX1.
UniProtKB/Swiss-Prot Summary for CYBB Gene
-
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.
Additional gene information for CYBB Gene
- HGNC (2578)
- NCBI Entrez Gene (1536)
- Ensembl (ENSG00000165168)
- OMIM® (300481)
- UniProtKB/Swiss-Prot (P04839)
- Open Targets Platform(ENSG00000165168)
- Monarch Initiative
- Search for CYBB at DataMed
- Search for CYBB at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYBB Gene
Genomics for CYBB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CYBB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CYBB on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYBB
- Top Transcription factor binding sites by QIAGEN in the CYBB gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CUTL1
- PPAR-gamma1
- PPAR-gamma2
- STAT3
Genomic Locations for CYBB Gene
Latest Assembly
- chrX:37,780,059-37,813,461
- (GRCh38/hg38)
- Size:
- 33,403 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:37,639,312-37,672,714
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 33,403 bases
- Orientation:
- Plus strand
- chrX:37,639,264-37,672,714
- (GRCh37/hg19 by Ensembl)
- Size:
- 33,451 bases
- Orientation:
- Plus strand
Genomic View for CYBB Gene
Genes around CYBB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp21.1-p11.4 by HGNC
- Xp21.1-p11.4 by Entrez Gene
- Xp21.1 by Ensembl
CYBB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CYBB Gene
Proteins for CYBB Gene
-
Protein details for CYBB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P04839-CY24B_HUMAN
- Recommended name:
- Cytochrome b-245 heavy chain
- Protein Accession:
- P04839
- A8K138
- Q2PP16
Protein attributes for CYBB Gene
- Size:
- 570 amino acids
- Molecular mass:
- 65336 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex (PubMed:19028840, PubMed:3600769, PubMed:9224653). Interacts with CYBC1; CYBC1 may act as a chaperone stabilizing Cytochrome b-245 heterodimer (PubMed:28351984).
- SequenceCaution:
-
- Sequence=CAA27635.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CYBB Gene
Selected DME Specific Peptides for CYBB Gene
- P04839:
-
- CLNFNCMLIL
- AFEWFADLL
- LEWHPFTLTSAP
- GIGVTPF
Post-translational modifications for CYBB Gene
- Glycosylated.
- Phosphorylated on Ser and Thr residues.
- Undergoes 'Lys-48'-linked polyubiquitination, likely by RNF145, triggering endoplasmic reticulum-associated degradation.
-
Glycosylation at Asn132, Asn149, and Asn240
- NX_P04839 (NX_P04839-1)
-
Ubiquitination at Lys161, Lys255, Lys294, Lys299, Lys306, Lys328, Lys334, Lys381, Lys506, and Lys567
- NX_P04839 (NX_P04839-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- CY24B_HUMAN (1165)
Other Protein References for CYBB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CYBB / NOX2 / gp91phox Monoclonal Antibody and CYBB / NOX2 / gp91phox Antibody
- G Biosciences Immunotag™ CYBB Antibody
- NSJ Bioreagents NOX2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CYBB
- Novus Biologicals Antibodies for CYBB
-
Abcam antibodies for CYBB
- Invitrogen Antibodies for CYBB (AFLGC-Cybb)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYBB
- Sino Biological Antibodies for CYBB
Protein products for research
-
OriGene Purified Proteins for CYBB
- Search Origene for MassSpec and Protein Over-expression Lysates for CYBB
- Origene Custom Protein Services for CYBB
- Novus Biologicals proteins for CYBB
- antibodies-online: Show 6 available CYBB Proteins ranked by validation data
- Compare Top CYBB Proteins
-
Quality Products:
-
Abcam proteins for CYBB
Assay products for research
- G Biosciences Immunotag™ Human Cytochrome b-245 Beta Polypeptide ELISA
- antibodies-online: Show 12 available CYBB Elisa Kits ranked by validation data
- Compare Top CYBB Elisa Kits
-
Quality Products:
Domains & Families for CYBB Gene
Gene Families for CYBB Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for CYBB Gene
- InterPro:
- Blocks:
-
- Cytochrome B-245 heavy chain signature
- Ferric reductase-like transmembrane component, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for CYBB Gene
- GenScript: Design optimal peptide antigens:
-
- p22 phagocyte B-cytochrome (CY24B_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CYBB Gene
Function for CYBB Gene
Molecular function for CYBB Gene
- UniProtKB/Swiss-Prot Function:
- Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.
- GENATLAS Biochemistry:
- cytochrome b-558,beta polypeptide,(91kDa,membrane bound component of the NADPH oxidase system,cypb245),gp91-phox,expressed in neutrophils,oxygen dependent mechanism of phagocytosis
Enzyme Numbers (IUBMB) for CYBB Gene
| 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 | TAS | 12716910 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for CYBB Gene
- MGI mutant phenotypes for CYBB:
-
inferred from 3 alleles
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- neoplasm
- digestive/alimentary phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for CYBB:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYBB - Starting at $85 >
- * CYBB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CYBB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYBB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYBB
miRNA for CYBB Gene
- miRTarBase miRNAs that target CYBB
-
- hsa-miR-34a-5p (MIRT438000)
- mmu-miR-129-5p (MIRT593934)
- hsa-miR-1282 (MIRT659193)
- hsa-miR-3152-5p (MIRT659194)
- hsa-miR-4774-3p (MIRT659195)
- hsa-miR-6867-3p (MIRT659196)
- hsa-miR-6826-3p (MIRT659197)
- hsa-miR-4685-3p (MIRT659198)
- hsa-miR-6845-3p (MIRT659199)
- hsa-miR-4287 (MIRT659200)
- hsa-miR-7113-3p (MIRT659201)
- hsa-miR-4469 (MIRT659202)
- hsa-miR-6734-3p (MIRT659203)
- hsa-miR-6769b-3p (MIRT659204)
- hsa-miR-4723-3p (MIRT659205)
- hsa-miR-3183 (MIRT659206)
- hsa-miR-6892-3p (MIRT659207)
- hsa-miR-6756-3p (MIRT659208)
- hsa-miR-3127-3p (MIRT659209)
- hsa-miR-6887-3p (MIRT659210)
- hsa-miR-6795-3p (MIRT659211)
- hsa-miR-6859-3p (MIRT668854)
- hsa-miR-4640-3p (MIRT668855)
- hsa-miR-106b-5p (MIRT735084)
- hsa-miR-148b-3p (MIRT735085)
- hsa-miR-204-5p (MIRT735086)
- mmu-miR-204-5p (MIRT735087)
- mmu-miR-106b-5p (MIRT735088)
- mmu-miR-148b-3p (MIRT735089)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYBB
- Browse OriGene Inhibitory RNA Products For CYBB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYBB
Clone products for research
- Applied Biological Materials (abm): Clones for CYBB - Starting at $45 >
- * CYBB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CYBB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYBB
Cell Lines for research
-
Horizon Cell Lines for CYBB
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for CYBB Gene
Localization for CYBB Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYBB Gene
- Cell membrane. Multi-pass membrane protein. Note=As unassembled monomer may localize to the endoplasmic reticulum. {ECO:0000305 PubMed:28351984}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| extracellular | 3 |
| mitochondrion | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005791 | rough endoplasmic reticulum | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYBB Gene
Pathways & Interactions for CYBB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Pathways of neurodegeneration - multiple diseases | ||
| 3 | Class I MHC mediated antigen processing and presentation | ||
| 4 | Antigen processing-Cross presentation | ||
| 5 | Signaling by Rho GTPases | ||
Pathways by source for CYBB Gene
2 BioSystems pathways for CYBB Gene
16 Reactome pathways for CYBB Gene
13 KEGG pathways for CYBB Gene
4 GeneGo (Thomson Reuters) pathways for CYBB Gene
- G-protein signaling RAC1 in cellular process
- G-protein signaling_Rac2 regulation pathway
- Immune response CCR3 signaling in eosinophils
- Inhibitory action of Lipoxins on Superoxide production in neutrophils
2 Qiagen pathways for CYBB Gene
- Antioxidant Action of Vitamin-C
- Transendothelial Migration of Leukocytes
Interacting Proteins for CYBB Gene
Selected Interacting proteins:
ENSP00000367851
P04839-CY24B_HUMAN
for CYBB Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for CYBB
| 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 | TAS,ISS | -- |
Transcripts for CYBB Gene
mRNA/cDNA for CYBB Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378588 4276 nts (view in UCSC)
- ENST00000492288 525 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYBB - Starting at $85 >
- * CYBB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CYBB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYBB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYBB
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYBB
- Browse OriGene Inhibitory RNA Products For CYBB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYBB
Clone products for research
- Applied Biological Materials (abm): Clones for CYBB - Starting at $45 >
- * CYBB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CYBB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYBB
Relevant External Links for CYBB Gene
- GeneLoc Exon Structure for
- CYBB
Expression for CYBB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
- Granulocytes Peripheral Blood
- Monocytes Peripheral Blood
- Plasmacytoid Dendritic cells Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
- Spleen (Hematopoietic System)
- Bone (Muscoskeletal System)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for CYBB Gene
This gene is overexpressed in Whole Blood (x18.9) and Spleen (x4.3).
This gene is overexpressed in Monocytes (22.5), Neutrophil (17.7), and Nasal epithelium (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYBB Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYBB
SOURCE GeneReport for Unigene cluster for CYBB Gene:
Hs.292356mRNA Expression by UniProt/SwissProt for CYBB Gene:
P04839-CY24B_HUMAN
Tissue specificity:
Detected in neutrophils (at protein level).
Evidence on tissue expression from TISSUES for CYBB Gene
- Blood(4.8)
- Nervous system(4.7)
- Liver(4.6)
- Heart(3.7)
- Spleen(3.7)
- Lung(3.4)
- Intestine(3.2)
- Muscle(3.2)
- Bone marrow(3.2)
- Kidney(3.1)
- Lymph node(3.1)
- Adrenal gland(2.5)
- Stomach(2.3)
- Eye(2.2)
- Pancreas(2.2)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CYBB Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- ear
- eye
- face
- head
- jaw
- lacrimal apparatus
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- scalp
- sinus
- skull
Thorax:
- bronchus
- chest wall
- clavicle
- esophagus
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
Pelvis:
- anus
- pelvis
- rectum
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- bone marrow
- lymph node
- skin
- spinal column
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for CYBB
-
OriGene qPCR primer pairs and template standards for CYBB
Gene Expression Assays for research
Orthologs for CYBB Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CYBB 31 |
|
OneToOne | |
| LOC465566 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | NOX2 31 |
|
OneToOne | |
| CYBB 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | CYBB 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cybb 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CYBB 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CYBB 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cybb 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NOX2 31 |
|
OneToOne | |
| CYBB 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | CYBB 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cybb 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19943 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cybb 30 31 |
|
OneToOne | |
| zgc64144 30 |
|
||||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19230 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0453700 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU10775 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3138 30 |
|
- Species where no ortholog for CYBB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CYBB Gene
- ENSEMBL:
- Gene Tree for CYBB (if available)
- TreeFam:
- Gene Tree for CYBB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CYBB: view image
Paralogs for CYBB Gene
Variants for CYBB Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYBB Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835972 | Uncertain Significance: Chronic granulomatous disease, X-linked | 37,783,535(+) |
A/C NM_000397.4(CYBB):c.187A>C (p.Asn63His) |
MISSENSE | |
| 841765 | Likely Pathogenic: Chronic granulomatous disease, X-linked | 37,805,005(+) |
G/A NM_000397.4(CYBB):c.1152-1G>A |
SPLICE_ACCEPTOR | |
| 842892 | Pathogenic: Chronic granulomatous disease, X-linked | 37,803,880(+) |
GTCAC/G NM_000397.4(CYBB):c.902_905TCAC[1] (p.His303fs) |
FRAMESHIFT | |
| 843650 | Pathogenic: Chronic granulomatous disease, X-linked | 37,805,096(+) |
AC/A NM_000397.4(CYBB):c.1245del (p.Phe416fs) |
FRAMESHIFT | |
| 847891 | Pathogenic: Chronic granulomatous disease, X-linked | 37,793,769(+) |
CA/C NM_000397.4(CYBB):c.446del (p.Asn149fs) |
FRAMESHIFT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3573862 | CNV | loss | 25503493 |
Residual Variation Intolerance Score:
34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.12;
22.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CYBB Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYBB Gene
Disorders for CYBB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 34 |
|
|
| granulomatous disease, chronic, x-linked |
|
|
| chronic granulomatous disease |
|
|
| x-linked mendelian susceptibility to mycobacterial diseases |
|
|
| phagocyte bactericidal dysfunction |
|
|
Search CYBB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CY24B_HUMAN- Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269 PubMed:10089913, ECO:0000269 PubMed:10914676, ECO:0000269 PubMed:11462241, ECO:0000269 PubMed:11997083, ECO:0000269 PubMed:12139950, ECO:0000269 PubMed:15338276, ECO:0000269 PubMed:1710153, ECO:0000269 PubMed:18773283, ECO:0000269 PubMed:22125116, ECO:0000269 PubMed:23910690, ECO:0000269 PubMed:2556453, ECO:0000269 PubMed:27666509, ECO:0000269 PubMed:7927345, ECO:0000269 PubMed:8101486, ECO:0000269 PubMed:8182143, ECO:0000269 PubMed:8916969, ECO:0000269 PubMed:9111587, ECO:0000269 PubMed:9585602, ECO:0000269 PubMed:9667376, ECO:0000269 PubMed:9794433, ECO:0000269 PubMed:9856476, ECO:0000269 PubMed:9888386}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Immunodeficiency 34 (IMD34) [MIM:300645]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269 PubMed:21278736}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Genatlas disease for CYBB Gene
chronic granulomatous disease,X linked
Additional Disease Information for CYBB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for CYBB Gene
- Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. (PMID: 21278736) Bustamante J … Casanova JL (Nature immunology 2011) 3 4 74
- Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. (PMID: 19410294) Di Matteo G … IPINET (Italian Network for Primary Immunodeficiencies) (Molecular immunology 2009) 3 23 41
- Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee PL … Wang L (Journal of negative results in biomedicine 2006) 3 23 41
- CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID: 12139950) Jirapongsananuruk O … Fleisher TA (Clinical immunology (Orlando, Fla.) 2002) 3 4 23
- Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. (PMID: 10914676) Ishibashi F … Kanegasaki S (Human genetics 2000) 3 4 23
ExternalLinks
Products for CYBB Gene
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Sources for CYBB Gene
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