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

CYBA Gene

protein-coding   GIFtS: 63
GCID: GC16M088709

cytochrome b-245, alpha polypeptide

 Explore 76 diseases affiliated with
CYBA via our new
 Human Malady Compendium 
Biological research products
for CYBA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cytochrome B-245, Alpha Polypeptide1 2     P22phox1
P22-PHOX1     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     Flavocytochrome B-558 Alpha Polypeptide2
P22 Phagocyte B-Cytochrome2 3     P22-Phox1

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13498

  • CYBA Protein expression data from MOPED and PaxDb:    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 Proteins at Uscn

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CYBA for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007732 Cyt_b558_asu

    Graphical View of Domain Structure for InterPro Entry P13498

    ProtoNet protein and cluster: P13498

    1 Blocks protein family: IPB007732 Cytochrome b558 alpha-subunit

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyba):
     behavior/neurological  hearing/vestibular/ear  immune system  respiratory system 

    CYBA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYBA 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling_RAC1 in cellular process
    G-protein signaling RAC1 in cellular process1.00
    RAC1 signaling pathway0.34
    G-protein signaling_RAC1 in cellular process1.00
    2Immune response _CCR3 signaling in eosinophils
    Immune response _CCR3 signaling in eosinophils1.00
    Immune response CCR3 signaling in eosinophils1.00
    3Immune System
    Immune System1.00
    Adaptive Immune System0.59
    4Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)0.64
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    5G-protein signaling Regulation of RAC1 activity
    G-protein signaling Rac2 regulation pathway0.16
    G-protein signaling_Rac2 regulation pathway0.16

    Pathway sources
    See GeneCards unified pathways
    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 IMP2243141

    CYBA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for CYBA

    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 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 235 Homo sapiens; Mar 10 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,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

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    Additional cDNA 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):

    BI524270 AW152064 AA766274 AI673477 AI867529 BI521876 AI222391 AW268707 
    AI076057 BE676504 AI686369 CA489753 AA644008 AW276645 AI810889 BE675554 
    AI202296 AW662521 AW196420 BF063215 AI538549 AA284138 AI637488 BM148016 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCGCCGTGG
    CYBA Expression
    About this image
    See CYBA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYBA

    SOURCE GeneReport for Unigene cluster: Hs.513803
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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 4/15 species (see all 15)    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 
    lizard
    (Anolis carolinensis)
    Reptilia CYBA6
    --
    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, UniProtKB, 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

    10/285 NCBI SNPs in CYBA are shown (see all 285    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46731,2
    C,F,A,Hnon-pathogenic88713236(-) AGAAGC/TACATG 2 H Y mis1 ese344Minor allele frequency- T:0.33MN EA NA NS WA CSA EU 11100
    rs1048945151,2
    Cpathogenic74403913(-) CCCCCA/CGCCGC 2 Q P mis10--------
    rs1048945141,2
    Cpathogenic74406570(-) GCGAGA/C/TGGCAT 3 R S mis1 syn10--------
    rs1048945101,2
    Cpathogenic74407200(-) CCTGCA/GTCTCC 2 H R mis10--------
    rs1048945131,2
    Cpathogenic74407212(-) TGTTCA/GGGCCG 2 Q R mis10--------
    rs289414761,2
    Cpathogenic74408542(-) TCACCG/AGGGGC 2 /R /G mis1 ese31Minor allele frequency- A:0.00NA 2
    rs1048945111,2
    Cpathogenic74411446(-) TGGGGC/TAGATC 2 Q * stg10--------
    rs1793638921,2
    Cuntested74407213(-) ATGTTC/TGGGCC 2 R W mis10--------
    rs725546861,2
    F--74403634(-) CGGGCC/TGCATT 1 -- int16Minor allele frequency- T:0.01MN NA 524
    rs340066451,2
    C,F--74403659(-) GGCAGG/TCACCC 1 -- int15Minor allele frequency- T:0.01MN 380

    HapMap Linkage Disequilibrium report for CYBA (88709691 - 88717560 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CYBA
         2 CNVs: 4973 30011
    Human Gene Mutation Database (HGMD): CYBA

    Locus Specific Mutation Databases (LSDB): CYBA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    CYBA for disorders           About GeneDecksing

    OMIM gene information: 608508   
    OMIM disorders: 233690  
    UniProtKB/Swiss-Prot: CY24A_HUMAN, P13498
  • Defects in CYBA are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD)
  • [MIM:233690]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of
    neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening
    bacterial/fungal infections

    20/76 diseases for CYBA (see all 76):    About MalaCards
    chronic granulomatous disease    chronic granulomatous disease, autosomal, due to deficiency of cyba    chronic granulomatous disease, autosomal recessive, cytochrome b-negative    diffuse large b-cell lymphoma
    leber hereditary optic neuropathy    arterial occlusive disease    thoracic aortic aneurysm    peripheral arterial occlusive disease
    b-cell lymphomas    non-hodgkin lymphoma    aortic aneurysm    type 1 diabetes mellitus
    coronary heart disease    chronic obstructive pulmonary disease    sleep apnea    diabetes mellitus
    insulin resistance    tetralogy of fallot    ectodermal dysplasia    essential hypertension

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

    10/17 Novoseek 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 419):
    (articles sorted by number of sources associating them with CYBA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. (PubMed id 19388116)1, 2, 9 Bedard K.... Krause K.-H. (2009)
    4. Functional effect of the p22phox -930A/G polymorphism on p22phox expression and NADPH oxidase activity in hypertension. (PubMed id 15210651)1, 4, 9 San Jose G....Zalba G. (2004)
    5. Angiotensin-converting enzyme and p22(phox) polymorphisms and the risk of coronary heart disease in a low-risk Spanish population. (PubMed id 15193812)1, 4, 9 Mata-Balaguer T....Ruiz-Rejon F. (2004)
    6. Functional effects of NAD(P)H oxidase p22(phox) C242T mutation in human leukocytes and association with thrombotic cerebral infarction. (PubMed id 15186954)1, 4, 9 Shimo-Nakanishi Y....Urabe T. (2004)
    7. Endothelial venodilator response in carriers of genetic polymorphisms involved in NO synthesis and degradation. (PubMed id 15255799)1, 4, 9 Fricker R....Haefeli W.E. (2004)
    8. Nicotinamide adenine dinucleotide phosphate oxidase (NADPH oxidase) P22 Phox C242T gene polymorphism in type 1 diabetes. (PubMed id 14679084)1, 4, 9 Matsunaga S....Saruta T. (2003)
    9. 156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox. (PubMed id 7964505)1, 2, 9 Leusen J.H.... Verhoeven A.J. (1994)
    10. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). (PubMed id 1415254)1, 2, 9 de Boer M.... Roos D. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (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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