Human Gene CYBB (uc011mkf.1)
  Description: Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.
RefSeq Summary (NM_000397): Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chrX:37,639,270-37,672,714 Size: 33,445 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chrX:37,639,331-37,670,170 Size: 30,840 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:37,639,270-37,672,714)mRNA (may differ from genome)Protein (538 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5GWD2_HUMAN
DESCRIPTION: SubName: Full=Cytochrome b-245 heavy chain;
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SIMILARITY: Contains 1 ferric oxidoreductase domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CYBB
CDC HuGE Published Literature: CYBB

-  MalaCards Disease Associations
  MalaCards Gene Search: CYBB
Diseases sorted by gene-association score: immunodeficiency 34, mycobacteriosis, x-linked* (1550), chronic granulomatous disease, x-linked* (1319), chronic granulomatous disease* (582), familial atypical mycobacteriosis, x-linked, cybb-related* (100), phagocyte bactericidal dysfunction (19), human granulocytic anaplasmosis (11), ornithine transcarbamylase deficiency (9), ehrlichiosis (8), toxic myocarditis (7), suppurative lymphadenitis (6), vascular disease (3), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.80 RPKM in Whole Blood
Total median expression: 267.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.9561-0.065 Picture PostScript Text
3' UTR -667.792544-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000778 - Cyt_b245_heavy_chain
IPR013112 - FAD-bd_8
IPR017927 - Fd_Rdtase_FAD-bd
IPR013130 - Fe3_Rdtase_TM_dom
IPR013121 - Fe_red_NAD-bd_6
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF00970 - Oxidoreductase FAD-binding domain
PF01794 - Ferric reductase like transmembrane component
PF08022 - FAD-binding domain
PF08030 - Ferric reductase NAD binding domain

SCOP Domains:
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain

ModBase Predicted Comparative 3D Structure on F5GWD2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  HW061178 - JP 2012529430-A/53: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482138 - Sequence 121 from Patent WO2011072091.
JB251986 - Sequence 53 from Patent EP2440214.
JE980430 - Sequence 121 from Patent EP2862929.
LP764885 - Sequence 53 from Patent EP3276004.
AK289753 - Homo sapiens cDNA FLJ75580 complete cds, highly similar to Homo sapiens cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB), mRNA.
BC032720 - Homo sapiens cytochrome b-245, beta polypeptide, mRNA (cDNA clone MGC:45153 IMAGE:5505170), complete cds.
AK304033 - Homo sapiens cDNA FLJ50359 complete cds, highly similar to Cytochrome b-245 heavy chain.
AK301491 - Homo sapiens cDNA FLJ50260 complete cds, highly similar to Cytochrome b-245 heavy chain.
AK312929 - Homo sapiens cDNA, FLJ93379.
AK301476 - Homo sapiens cDNA FLJ60919 complete cds, highly similar to Cytochrome b-245 heavy chain.
X04011 - Human mRNA of X-CGD gene involved in chronic granulomatous disease located on chromosome X.
DQ894032 - Synthetic construct Homo sapiens clone IMAGE:100008492; FLH166722.01L; RZPDo839C0787D cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB) gene, encodes complete protein.
DQ890878 - Synthetic construct clone IMAGE:100003508; FLH166726.01X; RZPDo839C0788D cytochrome b-245, beta polypeptide (chronic granulomatous disease) (CYBB) gene, encodes complete protein.
KJ891009 - Synthetic construct Homo sapiens clone ccsbBroadEn_00403 CYBB gene, encodes complete protein.
KR710891 - Synthetic construct Homo sapiens clone CCSBHm_00017797 CYBB (CYBB) mRNA, encodes complete protein.
KR710892 - Synthetic construct Homo sapiens clone CCSBHm_00017854 CYBB (CYBB) mRNA, encodes complete protein.
KR710893 - Synthetic construct Homo sapiens clone CCSBHm_00017911 CYBB (CYBB) mRNA, encodes complete protein.
KR710894 - Synthetic construct Homo sapiens clone CCSBHm_00017933 CYBB (CYBB) mRNA, encodes complete protein.
KU178009 - Homo sapiens cytochrome b-245 beta polypeptide isoform 1 (CYBB) mRNA, partial cds.
KU178010 - Homo sapiens cytochrome b-245 beta polypeptide isoform 2 (CYBB) mRNA, complete cds, alternatively spliced.
S67289 - CYBB=cytochrome b558 gp91-phox subunit [human, mRNA Partial Mutant, 102 nt].
CU689504 - Synthetic construct Homo sapiens gateway clone IMAGE:100019889 5' read CYBB mRNA.
JD153888 - Sequence 134912 from Patent EP1572962.
JD390979 - Sequence 372003 from Patent EP1572962.
JD264239 - Sequence 245263 from Patent EP1572962.
JD369414 - Sequence 350438 from Patent EP1572962.
JD154417 - Sequence 135441 from Patent EP1572962.
JD181231 - Sequence 162255 from Patent EP1572962.
JD096297 - Sequence 77321 from Patent EP1572962.
JD314587 - Sequence 295611 from Patent EP1572962.
JD304168 - Sequence 285192 from Patent EP1572962.
JD247700 - Sequence 228724 from Patent EP1572962.
JD243745 - Sequence 224769 from Patent EP1572962.
JD286540 - Sequence 267564 from Patent EP1572962.
JD204380 - Sequence 185404 from Patent EP1572962.
JD170534 - Sequence 151558 from Patent EP1572962.
JD235321 - Sequence 216345 from Patent EP1572962.
JD074328 - Sequence 55352 from Patent EP1572962.
JD486824 - Sequence 467848 from Patent EP1572962.
JD108570 - Sequence 89594 from Patent EP1572962.
JD429574 - Sequence 410598 from Patent EP1572962.
JD078618 - Sequence 59642 from Patent EP1572962.
JD493352 - Sequence 474376 from Patent EP1572962.
JD363987 - Sequence 345011 from Patent EP1572962.
JD353251 - Sequence 334275 from Patent EP1572962.
JD189329 - Sequence 170353 from Patent EP1572962.
JD300398 - Sequence 281422 from Patent EP1572962.
JD535842 - Sequence 516866 from Patent EP1572962.
JD057882 - Sequence 38906 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04670 - Leukocyte transendothelial migration

-  Other Names for This Gene
  Alternate Gene Symbols: AK301491, F5GWD2, F5GWD2_HUMAN, NM_000397, NP_000388
UCSC ID: uc011mkf.1
RefSeq Accession: NM_000397
Protein: F5GWD2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CYBB:
cgd (Chronic Granulomatous Disease)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK301491.1
exon count: 12CDS single in 3' UTR: no RNA size: 1822
ORF size: 1617CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 3434.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.