Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CYBA Gene

protein-coding   GIFtS: 65
GCID: GC16M088709

Cytochrome B-245, Alpha Polypeptide

  See CYBA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Cytochrome B-245, Alpha Polypeptide1 2     p22phox2 3
Flavocytochrome B-558 Alpha Polypeptide1 2     Cytochrome B Light Chain2
Cytochrome B(558) Alpha Chain2 3     Cytochrome B(558) Alpha-Subunit2
Cytochrome B558 Subunit Alpha2 3     Cytochrome B, Alpha Polypeptide2
Neutrophil Cytochrome B 22 KDa Polypeptide2 3     Cytochrome B-245 Light Chain2
Superoxide-Generating NADPH Oxidase Light Chain Subunit2 3     p22-PHOX2
P22 Phagocyte B-Cytochrome2 3     p22-phox3

External Ids:    HGNC: 25771   Entrez Gene: 15352   Ensembl: ENSG000000515237   OMIM: 6085085   UniProtKB: P134983   

Export aliases for CYBA gene to outside databases

Previous GC identifers: GC16M080145 GC16M089678 GC16M088413 GC16M088453 GC16M087237 GC16M074403


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 polypeptide) is a protein-coding gene. Diseases associated with CYBA include chronic granulomatous disease, autosomal recessive, cytochrome b-negative, and chronic granulomatous disease, autosomal, due to deficiency of cyba. GO annotations related to this gene include protein heterodimerization activity and heme binding.

UniProtKB/Swiss-Prot: CY24A_HUMAN, P13498
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

Gene Wiki entry for CYBA (Cytochrome b-245, alpha polypeptide) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYBA gene promoter:
         Sp1   AP-1   p53   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYBA promoter sequence
   Search Chromatin IP Primers for CYBA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYBA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24

CYBA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYBA gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M088709:  view genomic region     (about GC identifiers)

Start:
88,709,691 bp from pter      End:
88,717,560 bp from pter
Size:
7,870 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CY24A_HUMAN, P13498 (See protein sequence)
Recommended Name: Cytochrome b-245 light chain  
Size: 195 amino acids; 21013 Da
Subunit: 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)
1 PDB 3D structure from and Proteopedia for CYBA:
1WLP (3D)    
Secondary accessions: Q14090 Q9BR72

Explore the universe of human proteins at neXtProt for CYBA: NX_P13498

Explore proteomics data for CYBA at MOPED

Post-translational modifications: 

  • 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-2451
  • Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYBA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000092.2  
    ENSEMBL proteins: 
     ENSP00000261623   ENSP00000455537   ENSP00000457060   ENSP00000454951   ENSP00000456079  
     ENSP00000455506  
    Reactome Protein details: P13498

    CYBA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CYBA
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CYBA
    GenScript Custom Purified and Recombinant Proteins Services for CYBA
    Novus Biologicals CYBA Protein
    Novus Biologicals CYBA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CYBA 

    CYBA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CYBA
    Novus Biologicals CYBA Antibodies
    Abcam antibodies for CYBA
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for CYBA
    LSBio Antibodies in human, mouse, rat for CYBA

    CYBA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CYBA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYBA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CYBA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CYB: Cytochrome b genes

    1 InterPro protein domain:
     IPR007732 Cyt_b558_asu

    Graphical View of Domain Structure for InterPro Entry P13498

    ProtoNet protein and cluster: P13498

    1 Blocks protein domain: IPB007732 Cytochrome b558 alpha-subunit

    UniProtKB/Swiss-Prot: CY24A_HUMAN, P13498
    Similarity: Belongs to the p22phox family


    Find genes that share domains with CYBA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CY24A_HUMAN, P13498
    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

         Genatlas biochemistry entry for CYBA:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11733522
    GO:0009055electron carrier activity TAS2243141
    GO:0016175contributes to superoxide-generating NADPH oxidase activity IMP1763037
    GO:0017124SH3 domain binding IPI7938008
    GO:0020037heme binding IEA--
         
    Find genes that share ontologies with CYBA           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CYBA:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cyba):
     behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     respiratory system 

    Find genes that share phenotypes with CYBA           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYBA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYBA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYBA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYBA

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYBA:
    hsa-mir-15b-5p (MIRT046446), hsa-mir-320a (MIRT044553)

    Block miRNA regulation of human, mouse, rat CYBA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CYBA
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYBA
    Predesigned siRNA for gene silencing in human, mouse, rat CYBA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYBA

    Clone
    Products:
         
    OriGene clones in human, mouse for CYBA (see all 6)
    OriGene ORF clones in mouse, rat for CYBA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYBA (NM_000101)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYBA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CYBA
    Browse ESI BIO Cell Lines and PureStem Progenitors for CYBA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYBA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CY24A_HUMAN, P13498: Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    extracellular2
    golgi apparatus2
    mitochondrion2
    endoplasmic reticulum1
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0030141secretory granule TAS12005167

    Find genes that share ontologies with CYBA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CYBA About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    2CDK-mediated phosphorylation and removal of Cdc6
    Antigen processing-Cross presentation0.80
    Cross-presentation of particulate exogenous antigens (phagosomes)0.00
    3Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    4Inhibitory action of Lipoxins on Superoxide production in neutrophils
    Inhibitory action of Lipoxins on Superoxide production in neutrophils0.48
    5Integrin Pathway
    Transendothelial Migration of Leukocytes0.38


    Find genes that share SuperPaths with CYBA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CYBA
        Transendothelial Migration of Leukocytes

    4 GeneGo (Thomson Reuters) Pathways for CYBA
        G-protein signaling Rac2 regulation pathway
    Inhibitory action of Lipoxins on Superoxide production in neutrophils
    G-protein signaling RAC1 in cellular process
    Immune response CCR3 signaling in eosinophils

    2 BioSystems Pathways for CYBA
        Oxidative Stress
    RAC1 signaling pathway

    2 Reactome Pathways for CYBA
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)

    1 PharmGKB Pathway for CYBA
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    4 Kegg Pathways  (Kegg details for CYBA):
        Phagosome
    Osteoclast differentiation
    Leukocyte transendothelial migration
    Leishmaniasis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYBA
    Interactions:

        GeneGlobe Interaction Network for CYBA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for CYBA (P134981, 2, 3 ENSP000002616234) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF1P145981, 2, 3, ENSP000002894734EBI-986058,EBI-395044 MINT-6175930 I2D: score=4 STRING: ENSP00000289473
    NCF4Q150802, 3MINT-6175915 I2D: score=3 
    NOXO1Q8NFA21, 2, 3, ENSP000003804504EBI-986058,EBI-7130806 MINT-7147838 MINT-7147990 MINT-8109354 I2D: score=1 STRING: ENSP00000380450
    NCF2P198783, ENSP000003565054I2D: score=3 STRING: ENSP00000356505
    NOX1Q9Y5S83, ENSP000003620574I2D: score=2 STRING: ENSP00000362057
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001938positive regulation of endothelial cell proliferation IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0003106negative regulation of glomerular filtration by angiotensin IEA--
    GO:0006801superoxide metabolic process IMP1763037

    Find genes that share ontologies with CYBA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYBA (CY24A)

    2 HMDB Compounds for CYBA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    Selected Novoseek inferred chemical compound relationships for CYBA gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 93 204 10893420 (5), 16759310 (5), 10593961 (4), 15210651 (4) (see all 99)
    superoxide 81.1 40 16460309 (3), 10788501 (2), 9856978 (2), 17880563 (2) (see all 29)
    diphenyleneiodonium 77.5 5 15683718 (1), 18958420 (1), 11980681 (1)
    apocynin 72.3 1 18092937 (1)
    oxygen 65 16 15994299 (4), 10996353 (1), 16754784 (1), 18660448 (1) (see all 13)
    nadh 63.4 16 10583446 (1), 10720412 (1), 11133215 (1), 9445163 (1) (see all 14)
    hocl 41.5 1 12440767 (1)
    n-formylmethionyl-leucylphenylalanine 41.5 1 10893420 (1)
    nitric oxide 38.1 13 12514663 (1), 16738684 (1), 14561241 (1), 17081080 (1) (see all 8)
    h2o2 37.7 6 15683718 (2), 8917565 (1), 12440767 (1), 18717627 (1)

    2 PharmGKB related drug/compound annotations for CYBA gene    About this table
    Drug/compound PharmGKB Annotation
    doxorubicinCA  
    simvastatinCA  



    Find genes that share compounds with CYBA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CYBA gene: 
    NM_000101.3  

    Unigene Cluster for CYBA:

    Cytochrome b-245, alpha polypeptide
    Hs.513803  [show with all ESTs]
    Unigene Representative Sequence: BQ711094
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261623(uc002flb.3) ENST00000565588 ENST00000566534(uc010chx.1)
    ENST00000566229 ENST00000567174 ENST00000569359(uc002fld.1) ENST00000563526
    ENST00000568278 ENST00000562209 ENST00000561972
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CYBA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CYBA
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CYBA
    Predesigned siRNA for gene silencing in human, mouse, rat CYBA
    Clone
    Products:
         
    OriGene clones in human, mouse for CYBA (see all 6)
    OriGene ORF clones in mouse, rat for CYBA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CYBA (NM_000101)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYBA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CYBA
    OriGene qSTAR qPCR primer pairs in human, mouse for CYBA
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CYBA
      QuantiTect SYBR Green Assays in human, mouse, rat CYBA
      QuantiFast Probe-based Assays in human, mouse, rat CYBA

    Additional mRNA sequence: 

    AK300049.1 BC006465.1 BT006861.1 M21186.1 

    18 DOTS entries:

    DT.449843  DT.112624  DT.92060078  DT.100817057  DT.95363376  DT.317715  DT.40297132  DT.95166994 
    DT.75195756  DT.120656538  DT.40114988  DT.100817058  DT.120656519  DT.86835803  DT.92432291  DT.99965841 
    DT.120656543  DT.121394457 

    Selected AceView cDNA sequences (see all 375):

    AI076057 AI686369 CA489753 BI524270 AA284138 AW268707 BE675554 BE676504 
    AW152064 AI810889 AI673477 AA766274 BI521876 AI222391 AW196420 AA644008 
    AI867529 AW276645 AI202296 AW662521 BF063215 AI538549 BG757634 CB529173 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYBA (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CYBA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CYBA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCGCCGTGG
    CYBA Expression
    About this image


    CYBA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Gall Bladder (Hepatobiliary System)
    CYBA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYBA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513803
        Custom PCR Arrays for CYBA
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CYBA
    OriGene qSTAR qPCR primer pairs in human, mouse for CYBA
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CYBA
    QuantiTect SYBR Green Assays in human, mouse, rat CYBA
    QuantiFast Probe-based Assays in human, mouse, rat CYBA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYBA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for CYBA gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyba1 , 5 cytochrome b-245, alpha polypeptide1, 5 82.81(n)1
    90.53(a)1
      8 (71.04 cM)5
    130571  NM_007806.31  NP_031832.21 
     1224247725 
    chicken
    (Gallus gallus)
    Aves CYBA6
    cytochrome b-245, alpha polypeptide
    77(a)
    1 ↔ 1
    11(17893779-17895490)
    lizard
    (Anolis carolinensis)
    Reptilia CYBA6
    cytochrome b-245, alpha polypeptide
    75(a)
    1 ↔ 1
    GL343670.1(98511-111451)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.59672 Xenopus laevis transcribed sequence with weak similarity more 73.19(n)    CF270763.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660772 hypothetical protein MGC66077 70.31(n)   393551  BC056702.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CYBA (see all 320)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945141,2,,4
    CGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4 pathogenic189714529(-) GCGAGA/C/TGGCAT 2 R S mis10--------
    rs1793638921,2,,4
    CGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4 untested189715172(-) ATGTTC/TGGGCC 2 R W mis10--------
    rs289414761,2,,4
    CGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4 pathogenic189716501(-) TCACCA/GGGGGC 2 R G mis1 ese30--------
    VAR_0051264
    Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4--see VAR_0051262 P Q mis40--------
    VAR_0051244
    Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4--see VAR_0051242 H R mis40--------
    VAR_0051234
    Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4--see VAR_0051232 R Q mis40--------
    VAR_0605814
    Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)4--see VAR_0605812 A T mis40--------
    rs46731,2,,4
    C,F,A,Hnon-pathogenic189715226(-) AGAAGC/TACATG 2 H Y mis1 ese344Minor allele frequency- T:0.33MN EA NA NS WA CSA EU 11100
    rs1048945151,2
    Cpathogenic189711872(-) CCCCCA/CGCCGC 2 Q P mis10--------
    rs1048945101,2
    Cpathogenic189715159(-) CCTGCA/GTCTCC 2 H R mis10--------

    HapMap Linkage Disequilibrium report for CYBA (88709691 - 88717560 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CYBA (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1926CNV Insertion18451855
    nsv907283CNV Loss21882294
    nsv471113CNV Loss18288195
    dgv2980n71CNV Loss21882294
    nsv907278CNV Loss21882294
    dgv2977n71CNV Loss21882294
    nsv907268CNV Loss21882294
    nsv907264CNV Loss21882294
    nsv907255CNV Loss21882294
    dgv2978n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CYBA
    Locus Specific Mutation Databases (LSDB): CYBA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYBA
    DNA2.0 Custom Variant and Variant Library Synthesis for CYBA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608508   
    OMIM disorders: 233690  
    UniProtKB/Swiss-Prot: CY24A_HUMAN, P13498
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for CYBA:    
    About MalaCards
    chronic granulomatous disease, autosomal recessive, cytochrome b-negative    chronic granulomatous disease, autosomal, due to deficiency of cyba    chronic granulomatous disease    pulmonary edema
    obstructive sleep apnea    aggressive periodontitis    coronary artery disease    tetralogy of fallot
    artery disease    essential hypertension

    3 diseases from the University of Copenhagen DISEASES database for CYBA:
    Chronic granulomatous disease     Hypertension     Atherosclerosis

    Find genes that share disorders with CYBA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CYBA gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulomatous disease chronic 87.8 17 10910929 (2), 19292887 (2), 10452961 (1), 17101097 (1) (see all 15)
    atherosclerosis 49.7 11 12547880 (2), 11914250 (1), 18801380 (1), 10510050 (1) (see all 8)
    coronary artery disease 47.7 10 20100625 (2), 17627182 (1), 10996353 (1), 10700443 (1) (see all 8)
    cardiovascular diseases 40.1 2 17880563 (1), 15255799 (1)
    coronary heart disease 30.5 7 12905852 (2), 15193812 (1), 18324526 (1), 15461271 (1) (see all 6)
    hypercholesterolemia 20.3 4 17627182 (1), 12683949 (1), 15135268 (1)
    genetic disorder 18.4 2 17101097 (1), 12440767 (1)
    necrosis 12.2 1 11359957 (1)
    diabetes mellitus 7.97 2 15135268 (1)
    hypertension arterial 7.69 1 15255799 (1)

    Genatlas disease: CYBA
    chronic granulomatous disease,autosomal (cypb558 deficiency)

    Genetic Association Database (GAD): CYBA
    Human Genome Epidemiology (HuGE) Navigator: CYBA (123 documents)

    Export disorders for CYBA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for CYBA gene, integrated from 10 sources (see all 436):
    (articles sorted by number of sources associating them with CYBA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. (PubMed id 19388116)1, 2, 4, 9 Bedard K.... Krause K.-H. (Hum. Mutat. 2009)
    2. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. (PubMed id 2243141)1, 2, 3 Dinauer M.C.... Orkin S.H. (J. Clin. Invest. 1990)
    3. Relationship between reduced nicotinamide adenine dinucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive sleep apnea-hypopnea syndrome in the Chinese Han population. (PubMed id 19567155)1, 4, 9 Liu H.G....Xu Y.J. (Chin. Med. J. 2009)
    4. Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. (PubMed id 10759707)1, 2, 9 Yamada M.... Sakiyama Y. (Br. J. Haematol. 2000)
    5. Association of p22phox gene C242T polymorphism with coronary artery disease: a meta-analysis. (PubMed id 20100625)1, 4, 9 Fang S....Jia C. (Thromb. Res. 2010)
    6. G allele of the -930A&gt;G polymorphism of the CYBA gene is associated with insulin resistance in obese subjects. (PubMed id 19043982)1, 4, 9 Ochoa M.C....Marti A. (J. Physiol. Biochem. 2008)
    7. C242T polymorphism in CYBA gene (p22phox) and risk of coronary artery disease in a population of Caucasian Italians. (PubMed id 16788250)1, 4, 9 Nasti S....Ghigliotti G. (Dis. Markers 2006)
    8. [Association of C242T and A640G polymorphisms in the gene for p22phox subunit of NADPH oxidase with the risk of bronchial asthma: a pilot study]. (PubMed id 18672803)1, 4, 9 Ivanov V.P....Panfilov V.I. (Genetika 2008)
    9. The 242T variant of the CYBA gene polymorphism increases the risk of coronary artery disease associated with cigarette smoking and hypercholesterolemia. (PubMed id 17627182)1, 4, 9 Niemiec P....Wita K. (Coron. Artery Dis. 2007)
    10. Associations of polymorphism of P22(phox) C242T, plasma levels of vitamin E, and smoking with coronary heart disease in China. (PubMed id 17383305)1, 4, 9 He M.A....Wu T.C. (Am. Heart J. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 1535 HGNC: 2577 AceView: CYBA Ensembl:ENSG00000051523 euGenes: HUgn1535
    ECgene: CYBA Kegg: 1535 H-InvDB: CYBA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CYBA Pharmacogenomics, SNPs, Pathways
    CYBAbasehttp://bioinf.uta.fi/CYBAbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYBA[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=C&genename=CYBB+%40+GP91-PHOX

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CYBA gene:
    Search GeneIP for patents involving CYBA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CYBA  
     OriGene qPCR primer pairs and template standards for CYBA   OriGene Protein Over-expression Lysate for CYBA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CYBA  
     OriGene qSTAR qPCR primer pairs in human, mouse for CYBA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CYBA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CYBA   OriGene Custom Protein Services for CYBA  

     
     
     Block miRNA regulation of human, mouse, rat CYBA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CYBA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYBA Predesigned siRNA for gene silencing in human, mouse, rat CYBA
     QuantiFast Probe-based Assays in human, mouse, rat CYBA QuantiTect SYBR Green Assays in human, mouse, rat CYBA
     Custom PCR Arrays for CYBA Search Chromatin IP Primers for CYBA
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CYBA  GeneGlobe Interaction Network for CYBA
     Regulatory tfbs in CYBA promoter
     GenScript Custom Purified and Recombinant Proteins Services for CYBA GenScript cDNA clones with any tag delivered in your preferred vector for CYBA
     GenScript Custom Assay Services for CYBA GenScript Custom overexpressing Cell Line Services for CYBA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CYBA (CY24A)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CYBA antibodies
     CYBA proteins
     CYBA lysates
     Antibodies for CYBA
     See all of Abcam's Antibodies, Kits and Proteins for CYBA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for CYBA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYBA
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CYBA
     SwitchGear Promoter luciferase reporter plasmids for CYBA
     Search ThermoFisher Antibodies for CYBA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYBA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYBA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYBA
     LSBio Antibodies in human, mouse, rat for CYBA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CYBA
      Search eBioscience for proteins for CYBA
      Search eBioscience for elisas for CYBA
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CYBA gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4