Aliases for CYBB Gene
Aliases for CYBB Gene
- Cytochrome B-245 Beta Chain 2 3 5
- NADPH Oxidase 2 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 B558 Subunit Beta 3 4
- P22 Phagocyte B-Cytochrome 3 4
- CGD91-Phox 3 4
- NOX2 3 4
- Cytochrome B-245, Beta Polypeptide 2
- Cytochrome B-245 Beta Polypeptide 3
- Chronic Granulomatous Disease 2
External Ids for CYBB Gene
- HGNC: 2578
- Entrez Gene: 1536
- Ensembl: ENSG00000165168
- OMIM: 300481
- UniProtKB: 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 Ferroptosis and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and heme binding. An important paralog of this gene is NOX3.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for CYBB at DataMed
- Search for CYBB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBB Gene
Genomics for CYBB Gene
GeneHancer (GH) Regulatory Elements for CYBB Gene
Promoters and enhancers for CYBB Gene
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ037779 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 650.7 | +1.2 | 1204 | 3.2 | POLR2A ELF1 MLLT1 SPI1 | CYBB XK DYNLT3 ENSG00000250349 | |
| GH0XJ037813 | Promoter/Enhancer | 0.7 | EPDnew dbSUPER | 650.3 | +33.2 | 33155 | 0.1 | CYBB DYNLT3 ENSG00000250349 | ||
| GH0XJ037780 | Enhancer | 0.4 | Ensembl dbSUPER | 650.7 | -0.7 | -710 | 0.2 | CYBB XK ENSG00000250349 | ||
| GH0XJ037784 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 10.6 | +6.4 | 6407 | 4 | MAX EBF1 BMI1 IRF4 POLR2A EED BCLAF1 IKZF2 SRF L3MBTL2 | CYBB XK DYNLT3 ENSG00000250349 | |
| GH0XJ037817 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 12.8 | +37.8 | 37840 | 1.7 | SRF PKNOX1 JUNB PRDM6 POLR2A NFATC1 HMBOX1 NFE2 SPI1 | CYBB DYNLT3 ENSG00000250349 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CYBB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CYBB gene promoter:
Regulatory Element Products
Genomic Locations for CYBB Gene
Genomic Locations for CYBB Gene
- chrX:37,780,011-37,813,465
- (GRCh38/hg38)
- Size:
- 33,455 bases
- Orientation:
- Plus strand
- chrX:37,639,264-37,672,714
- (GRCh37/hg19)
Genomic View for CYBB Gene
Genes around CYBB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp21.1-p11.4 by Entrez Gene
- Xp21.1-p11.4 by HGNC
- 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.
- SequenceCaution:
-
- Sequence=CAA27635.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CYBB Gene
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 Asn240, posLast=149149, and posLast=132132
- Modification sites at PhosphoSitePlus
Other Protein References for CYBB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CYBB
- Novus Biologicals Antibodies for CYBB
- Invitrogen Antibodies for CYBB
- GeneTex CYBB Antibody for CYBB
-
Custom Antibody ServicesProSci Antibodies for CYBB
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYBB
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CYBB
- Origene Custom Protein Services for CYBB
- antibodies-online: Search results for 6 available CYBB Proteins ranked by validation data
- Compare Top CYBB Proteins
-
Quality Products:
- Search GeneTex for Proteins for CYBB
Assay Products
- antibodies-online: Search results for 9 available CYBB Elisa Kits ranked by validation data
- Compare Top CYBB Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CYBB Gene
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
Suggested Antigen Peptide Sequences for CYBB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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 2 alleles
- cardiovascular system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- mortality/aging
- cellular phenotype
- muscle phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CYBB:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYBB
-
CRISPR Products
-
OriGene CRISPR knockouts for CYBB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYBB
- genomics-online: gRNA clones - Search results for 91 available CYBB gene related products
- Overview of 91 available CYBB gene related products
- Applied Biological Materials CRISPR for CYBB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYBB
- GenScript: Design CRISPR guide RNA sequences for CYBB
miRNA for CYBB Gene
- miRTarBase miRNAs that target CYBB
-
- hsa-mir-34a-5p (MIRT438000)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 91 available CYBB gene related products
- Overview of 91 available CYBB gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CYBB
- VectorBuilder custom plasmid, inducible vectors for CYBB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYBB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYBB
- Applied Biological Materials Clones for CYBB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| mitochondrion | 4 |
| nucleus | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| lysosome | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | 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 | Class I MHC mediated antigen processing and presentation | ||
| 3 | Antigen processing-Cross presentation | ||
| 4 | Signaling by Rho GTPases | ||
| 5 | RET signaling | ||
Pathways by source for CYBB Gene
2 BioSystems pathways for CYBB Gene
16 Reactome pathways for CYBB Gene
8 KEGG pathways for CYBB Gene
4 GeneGo (Thomson Reuters) pathways for CYBB Gene
2 Qiagen pathways for CYBB Gene
Interacting Proteins for CYBB Gene
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:0006954 | inflammatory response | TAS,ISS | -- |
| GO:0007584 | response to nutrient | IEA | -- |
No data available for SIGNOR curated interactions for CYBB Gene
Drugs & Compounds for CYBB Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 |
Transcripts for CYBB Gene
mRNA/cDNA for CYBB Gene
- (142) Selected AceView cDNA sequences:
- (8) Additional mRNA sequences :
- (1) REFSEQ mRNAs :
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000378588 4324 bps (uc004ddr.3)
- ENST00000492288 525 bps (uc064yni.1)
Unigene Clusters for CYBB Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYBB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYBB
- genomics-online: gRNA clones - Search results for 91 available CYBB gene related products
- Overview of 91 available CYBB gene related products
- Applied Biological Materials CRISPR for CYBB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYBB
- GenScript: Design CRISPR guide RNA sequences for CYBB
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 91 available CYBB gene related products
- Overview of 91 available CYBB gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CYBB
- VectorBuilder custom plasmid, inducible vectors for CYBB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYBB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYBB
- Applied Biological Materials Clones for CYBB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of CYBB Gene:
CYBBSOURCE 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(4.6)
- Liver(4.5)
- Heart(3.6)
- Spleen(3.3)
- Lung(3.2)
- Muscle(3)
- Kidney(2.9)
- Bone marrow(2.8)
- Intestine(2.8)
- Lymph node(2.5)
- Adrenal gland(2)
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
-
OriGene qPCR primer pairs and template standards for CYBB
-
OriGene qPCR primer pairs for CYBB
Gene Expression Assay Products
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 34 |
|
OneToOne | |
| LOC465566 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | NOX2 34 |
|
OneToOne | |
| CYBB 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | CYBB 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cybb 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CYBB 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYBB 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cybb 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | NOX2 34 |
|
OneToOne | |
| CYBB 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | CYBB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cybb 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19943 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cybb 34 33 |
|
OneToOne | |
| zgc64144 33 |
|
||||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19230 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0453700 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.3138 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU10775 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3138 33 |
|
- Species where no ortholog for CYBB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 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 | |
| rs137854589 | 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] | 37,799,011(+) | G/A/C | coding_sequence_variant, missense_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYBB Gene
Disorders for CYBB Gene
(12) MalaCards diseases for CYBB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 34 |
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| granulomatous disease, chronic, x-linked |
|
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| chronic granulomatous disease |
|
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| phagocyte bactericidal dysfunction |
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| atypical mycobacteriosis, familial |
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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 disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. {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 mutations 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 variations 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 of Genetics and Cytogenetics in Oncology and Haematology
Publications for CYBB Gene
- 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 22 44 58
- CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID: 12139950) Jirapongsananuruk O … Fleisher TA (Clinical immunology (Orlando, Fla.) 2002) 3 4 22 58
- Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox. (PMID: 9888386) Patiño PJ … García de Olarte D (Human mutation 1999) 3 4 22 58
- Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway. (PMID: 10578014) Henderson LM … Meech RW (The Journal of general physiology 1999) 3 4 22 58
- An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity. (PMID: 9111587) Jendrossek V … Gahr M (European journal of haematology 1997) 3 4 22 58
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Sources for CYBB Gene
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