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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYBA Gene

protein-coding   GIFtS: 65
GCID: GC16M088709

Cytochrome B-245, Alpha Polypeptide

Microbiology & Infectious Diseases Congress
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(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

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

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, and among its related super-pathways are Insulin receptor recycling and Immune System. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010542.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CYBA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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). Interacts with SH3PXD2A (By similarity).
Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9)
Subcellular location: Cell membrane
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:

  • UniProtKB: 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
  • UniProtKB: Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13498

  • CYBA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYBA Protein Expression
    REFSEQ proteins: NP_000092.2  
    ENSEMBL proteins: 
     ENSP00000261623   ENSP00000455537   ENSP00000457060   ENSP00000454951   ENSP00000456079  
     ENSP00000455506  
    Reactome Protein details: P13498
    Human Recombinant Protein Products for CYBA: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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

    CYBA for ontologies           About GeneDecksing



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


    CYBA for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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--
         
    CYBA for ontologies           About GeneDecksing


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

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

    CYBA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYBA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CYBA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYBA 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYBA About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Phagosomal maturation (early endosomal stage)0.64
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Antigen processing: Ubiquitination & Proteasome degradation
    Class I MHC mediated antigen processing & presentation0.83
    4CDK-mediated phosphorylation and removal of Cdc6
    Antigen processing-Cross presentation0.81
    5Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for CYBA
        G-protein signaling RAC1 in cellular process
    G-protein signaling Rac2 regulation pathway
    Immune response CCR3 signaling in eosinophils

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/8        Reactome Pathways for CYBA (see all 8)
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)
    Antigen processing-Cross presentation
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Adaptive Immune System

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

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


    CYBA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYBA

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

    5/27 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 
    NOXO1Q8NFA22, 3, ENSP000003804504MINT-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): 5/29 biological process terms (GO ID links to tree view) (see all 29):    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

    CYBA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYBA for compounds           About GeneDecksing

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

    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--

    10/27 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)

    1 PharmGKB related drug/compound annotation for CYBA gene    About this table
    Drug/compound PharmGKB Annotation
    doxorubicinCA  

    Search CenterWatch for drugs/clinical trials and news about CYBA / CY24A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/375 AceView cDNA sequences (see all 375):

    AA766274 AA644008 AI686369 AW276645 AI673477 AI076057 AW662521 AW268707 
    AI810889 AI202296 BF063215 AI867529 AI222391 AW152064 AW196420 BE675554 
    AI538549 AA284138 BE676504 CA489753 BI524270 BI521876 AI637488 AA621587 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYBA expression in normal human tissues (normalized intensities)      CYBA embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, pre-menopause ; cells in endometrial stroma   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   

    See CYBA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYBA

    SOURCE GeneReport for Unigene cluster: Hs.513803
        SABiosciences Custom PCR Arrays for CYBA
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    In Situ
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    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for CYBA gene from 5/14 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 81.94(n)1
    88.02(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
    76(a)
    1 ↔ 1
    11(17893779-17895490)
    lizard
    (Anolis carolinensis)
    Reptilia CYBA6
    Uncharacterized protein
    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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/320 SNPs in CYBA are shown (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
    ----------
    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--------
    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--------
    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) 10/15 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/70 diseases for CYBA (see all 70):    About MalaCards
    chronic granulomatous disease, autosomal recessive, cytochrome b-negative    chronic granulomatous disease, autosomal, due to deficiency of cyba    chronic granulomatous disease    aggressive periodontitis
    pulmonary edema    gastroduodenitis    arterial occlusive disease    thoracic aortic aneurysm
    gitelman syndrome    coronary heart disease    dyspepsia    tetralogy of fallot
    leber hereditary optic neuropathy    intracranial aneurysm    essential hypertension    cerebrovascular disease
    sleep apnea    acute lymphocytic leukemia    primary ciliary dyskinesia    type 1 diabetes mellitus

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

    CYBA for disorders           About GeneDecksing

    10/17 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

    PubMed articles for CYBA gene, integrated from 9 sources (see all 430):
    (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. (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. (1990)
    3. Relationship between reduced nicotinamide adenine din ucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive s leep apnea-hypopnea syndrome in the Chinese Han population. (PubMed id 19567155)1, 4, 9 Liu H.G....Xu Y.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. (2000)
    5. Association of p22phox gene C242T polymorphism with c oronary artery disease: a meta-analysis. (PubMed id 20100625)1, 4, 9 Fang S....Jia C. (2010)
    6. G allele of the -930A>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. (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. (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. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 1535 HGNC: 2577 AceView: CYBA Ensembl:ENSG00000051523 euGenes: HUgn1535
    ECgene: CYBA Kegg: 1535 H-InvDB: CYBA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYBA Pharmacogenomics, SNPs, Pathways
    CYBAbasehttp://bioinf.uta.fi/CYBAbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYBA
    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
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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