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Aliases for CYBA Gene

Aliases for CYBA Gene

  • Cytochrome B-245 Alpha Chain 2 3
  • Cytochrome B-245, Alpha Polypeptide 2 3 5
  • Superoxide-Generating NADPH Oxidase Light Chain Subunit 3 4
  • Neutrophil Cytochrome B 22 KDa Polypeptide 3 4
  • Flavocytochrome B-558 Alpha Polypeptide 2 3
  • Cytochrome B(558) Alpha Chain 3 4
  • Cytochrome B558 Subunit Alpha 3 4
  • P22 Phagocyte B-Cytochrome 3 4
  • P22-PHOX 3 4
  • P22phox 3 4
  • Cytochrome B(558) Alpha-Subunit 3
  • Cytochrome B, Alpha Polypeptide 3
  • Cytochrome B Light Chain 3

External Ids for CYBA Gene

Previous GeneCards Identifiers for CYBA Gene

  • GC16M080145
  • GC16M089678
  • GC16M088413
  • GC16M088453
  • GC16M087237
  • GC16M088709
  • GC16M074403

Summaries for CYBA Gene

Entrez Gene Summary for CYBA Gene

  • Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYBA Gene

CYBA (Cytochrome B-245 Alpha Chain) is a Protein Coding gene. Diseases associated with CYBA include chronic granulomatous disease, autosomal, due to deficiency of cyba and chronic granulomatous disease. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include protein heterodimerization activity and SH3 domain binding.

UniProtKB/Swiss-Prot for CYBA Gene

  • Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.

Gene Wiki entry for CYBA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYBA Gene

Genomics for CYBA Gene

Regulatory Elements for CYBA Gene

Promoters for CYBA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYBA on UCSC Golden Path with GeneCards custom track

Genomic Location for CYBA Gene

Chromosome:
16
Start:
88,643,283 bp from pter
End:
88,651,152 bp from pter
Size:
7,870 bases
Orientation:
Minus strand

Genomic View for CYBA Gene

Genes around CYBA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYBA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYBA Gene

Proteins for CYBA Gene

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

    Protein Symbol:
    P13498-CY24A_HUMAN
    Recommended name:
    Cytochrome b-245 light chain
    Protein Accession:
    P13498
    Secondary Accessions:
    • Q14090
    • Q9BR72

    Protein attributes for CYBA Gene

    Size:
    195 amino acids
    Molecular mass:
    21013 Da
    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 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).

    Three dimensional structures from OCA and Proteopedia for CYBA Gene

neXtProt entry for CYBA Gene

Proteomics data for CYBA Gene at MOPED

Post-translational modifications for CYBA Gene

  • Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.
  • The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYBA Gene

No data available for DME Specific Peptides for CYBA Gene

Domains & Families for CYBA Gene

Protein Domains for CYBA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYBA Gene

Graphical View of Domain Structure for InterPro Entry

P13498

UniProtKB/Swiss-Prot:

CY24A_HUMAN :
  • Belongs to the p22phox family.
Family:
  • Belongs to the p22phox family.
genes like me logo Genes that share domains with CYBA: view

No data available for Gene Families for CYBA Gene

Function for CYBA Gene

Molecular function for CYBA Gene

GENATLAS Biochemistry:
cytochrome b-558,alpha polypeptide,(22kDa,membrane bound component of the NADPH oxidase system,cypb245),p22-phox,mainly expressed in neutrophiles,oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot Function:
Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.
genes like me logo Genes that share phenotypes with CYBA: view

Human Phenotype Ontology for CYBA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYBA Gene

MGI Knock Outs for CYBA:
  • Cyba tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for CYBA Gene

miRTarBase miRNAs that target CYBA

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CYBA Gene

Localization for CYBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYBA Gene

Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYBA Gene COMPARTMENTS Subcellular localization image for CYBA gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
mitochondrion 3
cytosol 2
endosome 2
extracellular 2
golgi apparatus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0030425 dendrite IEA --
GO:0030670 phagocytic vesicle membrane TAS --
GO:0043020 NADPH oxidase complex IEA,IMP 1763037
GO:0097038 perinuclear endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with CYBA: view

Pathways & Interactions for CYBA Gene

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

Gene Ontology (GO) - Biological Process for CYBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0003106 negative regulation of glomerular filtration by angiotensin IEA --
GO:0006801 superoxide metabolic process IEA,IMP 1763037
genes like me logo Genes that share ontologies with CYBA: view

No data available for SIGNOR curated interactions for CYBA Gene

Drugs & Compounds for CYBA Gene

(17) Drugs for CYBA Gene - From: Novoseek, DrugBank, PharmGKB, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 122
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1582
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 493
heme Pharma Agonist 0

(14) Additional Compounds for CYBA 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 CYBA: view

Transcripts for CYBA Gene

Unigene Clusters for CYBA Gene

Cytochrome b-245, alpha polypeptide:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - -
SP5: - -
SP6:

Relevant External Links for CYBA Gene

GeneLoc Exon Structure for
CYBA
ECgene alternative splicing isoforms for
CYBA

Expression for CYBA Gene

mRNA expression in normal human tissues for CYBA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYBA Gene

This gene is overexpressed in Whole Blood (x19.7) and Spleen (x5.6).

Protein differential expression in normal tissues from HIPED for CYBA Gene

This gene is overexpressed in Nasal epithelium (24.0), Neutrophil (16.5), and Monocytes (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYBA Gene



SOURCE GeneReport for Unigene cluster for CYBA Gene Hs.513803

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

Protein tissue co-expression partners for CYBA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CYBA Gene

Orthologs for CYBA Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYBA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYBA 35
  • 85.51 (n)
  • 89.01 (a)
CYBA 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYBA 35
  • 83.42 (n)
  • 85.13 (a)
CYBA 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyba 35
  • 82.81 (n)
  • 90.53 (a)
Cyba 16
Cyba 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYBA 35
  • 98.8 (n)
  • 98.97 (a)
CYBA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyba 35
  • 84.2 (n)
  • 90.62 (a)
oppossum
(Monodelphis domestica)
Mammalia CYBA 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYBA 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYBA 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYBA 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyba 35
  • 64.88 (n)
  • 72.19 (a)
Str.15394 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5967 35
zebrafish
(Danio rerio)
Actinopterygii cyba 35
  • 58.67 (n)
  • 62.86 (a)
zgc66077 35
cyba 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8225 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for CYBA:
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYBA Gene

ENSEMBL:
Gene Tree for CYBA (if available)
TreeFam:
Gene Tree for CYBA (if available)

Paralogs for CYBA Gene

No data available for Paralogs for CYBA Gene

Variants for CYBA Gene

Sequence variations from dbSNP and Humsavar for CYBA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4673 - 88,646,828(-) AGAAG(C/T)ACATG reference, missense
VAR_005123 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
VAR_005124 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
rs104894514 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) 88,646,131(-) GCGAG(A/C/T)GGCAT reference, synonymous-codon, missense
VAR_005126 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)

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

Variant ID Type Subtype PubMed ID
nsv907226 CNV Loss 21882294
nsv907255 CNV Loss 21882294
nsv907264 CNV Loss 21882294
nsv833325 CNV Loss 17160897
nsv907268 CNV Loss 21882294
dgv2977n71 CNV Loss 21882294
dgv2978n71 CNV Loss 21882294
dgv2979n71 CNV Loss 21882294
nsv907278 CNV Loss 21882294
nsv1926 CNV Insertion 18451855
dgv2980n71 CNV Loss 21882294
nsv907283 CNV Loss 21882294
dgv2981n71 CNV Loss 21882294
nsv907288 CNV Loss 21882294
nsv471113 CNV Loss 18288195

Variation tolerance for CYBA Gene

Gene Damage Index Score: 4.16; 61.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYBA Gene

HapMap Linkage Disequilibrium report
CYBA
Human Gene Mutation Database (HGMD)
CYBA

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

Disorders for CYBA Gene

MalaCards: The human disease database

(4) MalaCards diseases for CYBA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease, autosomal, due to deficiency of cyba
  • chronic granulomatous disease, autosomal recessive, cytochrome b-negative
chronic granulomatous disease
  • bridges-good syndrome
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
tetralogy of fallot
  • tetrology of fallot
- elite association - COSMIC cancer census association via MalaCards
Search CYBA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CY24A_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: 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:10759707, ECO:0000269 PubMed:10910929, ECO:0000269 PubMed:10914676, ECO:0000269 PubMed:1415254, ECO:0000269 PubMed:1763037, ECO:0000269 PubMed:18422995, ECO:0000269 PubMed:2243141, ECO:0000269 PubMed:23910690, ECO:0000269 PubMed:8168815}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CYBA Gene

chronic granulomatous disease,autosomal (cypb558 deficiency)

Relevant External Links for CYBA

Genetic Association Database (GAD)
CYBA
Human Genome Epidemiology (HuGE) Navigator
CYBA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYBA
genes like me logo Genes that share disorders with CYBA: view

Publications for CYBA Gene

  1. Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. (PMID: 19388116) Bedard K. … Krause K.-H. (Hum. Mutat. 2009) 3 4 23 48 67
  2. Association of p22phox gene C242T polymorphism with coronary artery disease: a meta-analysis. (PMID: 20100625) Fang S. … Jia C. (Thromb. Res. 2010) 3 23
  3. Haplotype analysis of the NADPH oxidase p22 phox gene in patients with bronchial asthma. (PMID: 18716406) Izakovicova Holla L. … Znojil V. (Int. Arch. Allergy Immunol. 2009) 3 23
  4. Effects of cyclic strain on endothelial cell apoptosis and tubulogenesis are dependent on ROS production via NAD(P)H subunit p22phox. (PMID: 18801380) Kou B. … Singer D.R. (Microvasc. Res. 2009) 3 23
  5. [Expression of WAVE1 and p22phox in children with acute lymphocytic leukemia and the relationship of WAVE1 with oxidative stress]. (PMID: 19222940) He Y.L. … Shi Z. (Zhongguo Dang Dai Er Ke Za Zhi 2009) 3 23

Products for CYBA Gene

Sources for CYBA Gene

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