CYBB Gene (Protein Coding)

Cytochrome B-245 Beta Chain

GC0XP037780
GIFtS:
48
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
  • 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
  • NOX2 3 4
  • Cytochrome B-245, Beta Polypeptide 2
  • Cytochrome B-245 Beta Polypeptide 3
  • Chronic Granulomatous Disease 2
  • EC 1.-.-.- 4
  • GP91-PHOX 3
  • Gp91-Phox 4
  • GP91PHOX 3
  • P91-PHOX 3
  • EC 1.6.3 54
  • AMCBX2 3
  • GP91-1 3
  • Gp91-1 4
  • IMD34 3
  • CGD 3

External Ids for CYBB Gene

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

Entrez Gene Summary 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 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.

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.

Gene Wiki entry for CYBB Gene

Additional gene information for CYBB Gene

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 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
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
- 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 UCSC Golden Path with GeneCards custom track

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

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)
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:
CYBB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYBB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYBB Gene

Proteins for CYBB Gene

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  • Protein details for CYBB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04839-CY24B_HUMAN
    Recommended name:
    Cytochrome b-245 heavy chain
    Protein Accession:
    P04839
    Secondary Accessions:
    • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYBB Gene

neXtProt entry for CYBB Gene

Protein Expression for CYBB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Ubiquitination at Lys161, Lys255, Lys294, Lys299, Lys306, Lys328, Lys334, Lys381, Lys506, and Lys567
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CY24B_HUMAN (1165)

Other Protein References for CYBB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody 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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYBB Gene

GenScript: Design optimal peptide antigens:
  • p22 phagocyte B-cytochrome (CY24B_HUMAN)
genes like me logo Genes that share domains with CYBB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CYBB Gene

Function for CYBB Gene

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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

Gene Ontology (GO) - Molecular Function 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 IBA,TAS 12716910
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYBB: view
genes like me logo Genes that share phenotypes with CYBB: view

Human Phenotype Ontology for CYBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYBB Gene

MGI Knock Outs for CYBB:
  • Cybb Cybb<tm1Din>
  • Cybb Cybb<tm2b(KOMP)Wtsi>

Animal Model Products

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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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYBB gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
nucleus 3
extracellular 2
mitochondrion 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYBB Gene

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 --
genes like me logo Genes that share ontologies with CYBB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYBB Gene

Pathways & Interactions for CYBB Gene

genes like me logo Genes that share pathways with CYBB: view

SIGNOR curated interactions for CYBB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CYBB Gene

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 --
genes like me logo Genes that share ontologies with CYBB: view

Drugs & Compounds for CYBB Gene

Products:

  1. Drug

(21) Drugs for CYBB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 162
FAD Approved Pharma 0
heme Pharma Agonist 0

(20) Additional Compounds for CYBB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
genes like me logo Genes that share compounds with CYBB: view

Transcripts for CYBB Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CYBB Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(142) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYBB Gene

No ASD Table

Relevant External Links for CYBB Gene

GeneLoc Exon Structure for
CYBB
ECgene alternative splicing isoforms for
CYBB

Expression for CYBB Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYBB Gene

mRNA expression in normal human tissues for CYBB Gene
mRNA expression by BioGPS for CYBB GenemRNA expression by GTEx for CYBB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CYBB Gene

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



Protein tissue co-expression partners for CYBB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYBB Gene:

CYBB

SOURCE GeneReport for Unigene cluster for CYBB Gene:

Hs.292356

mRNA 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
genes like me logo Genes that share expression patterns with CYBB: view

Orthologs for CYBB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYBB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CYBB 33
  • 100 (a)
 OneToOne
LOC465566 32
  • 99.77 (n)
dog
(Canis familiaris)
 Mammalia NOX2 33
  • 93 (a)
 OneToOne
CYBB 32
  • 89.77 (n)
cow
(Bos Taurus)
 Mammalia CYBB 33 32
  • 90.23 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cybb 32
  • 88.13 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CYBB 33
  • 88 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CYBB 33
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cybb 17 33 32
  • 87.6 (n)
chicken
(Gallus gallus)
 Aves NOX2 33
  • 84 (a)
 OneToOne
CYBB 32
  • 77.89 (n)
lizard
(Anolis carolinensis)
 Reptilia CYBB 33
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cybb 32
  • 72.16 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19943 32
zebrafish
(Danio rerio)
 Actinopterygii cybb 33 32
  • 66.31 (n)
 OneToOne
zgc64144 32
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G19230 32
  • 49.13 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0453700 32
  • 51.7 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 52 (a)
 OneToMany
Cin.3138 32
bread mold
(Neurospora crassa)
 Ascomycetes NCU10775 32
  • 50.46 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.3138 32
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

Paralogs for CYBB Gene

(3) SIMAP similar genes for CYBB Gene using alignment to 6 proteins:

  • CY24B_HUMAN
  • F5GWD2_HUMAN
  • F5GWU5_HUMAN
  • G8Z8Y8_HUMAN
  • V9GZH6_HUMAN
  • V9GZN7_HUMAN
genes like me logo Genes that share paralogs with CYBB: view

Variants for CYBB Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CYBB Gene

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

Structural Variations from Database of Genomic Variants (DGV) for CYBB Gene

Variant ID Type Subtype PubMed ID
esv3573862 CNV loss 25503493

Variation tolerance for CYBB Gene

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

Human Gene Mutation Database (HGMD)
CYBB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYBB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYBB Gene

Disorders for CYBB Gene

MalaCards: The human disease database

(17) MalaCards diseases for CYBB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 34
  • imd34
granulomatous disease, chronic, x-linked
  • cdgx
chronic granulomatous disease
  • granulomatous disease, chronic, x-linked
atypical mycobacteriosis, familial
  • atypical mycobacterial infection, disseminated
human granulocytic anaplasmosis
  • hge
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with CYBB: view

Publications for CYBB Gene

  1. 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 43 56
  2. CYBB mutation analysis in X-linked chronic granulomatous disease. (PMID: 12139950) Jirapongsananuruk O … Fleisher TA (Clinical immunology (Orlando, Fla.) 2002) 3 4 23 56
  3. 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 23 56
  4. 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 23 56
  5. 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 23 56

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