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CYBA cytochrome b-245 alpha chain [ Homo sapiens (human) ]

Gene ID: 1535, updated on 11-Apr-2024

Summary

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Official Symbol
CYBAprovided by HGNC
Official Full Name
cytochrome b-245 alpha chainprovided by HGNC
Primary source
HGNC:HGNC:2577
See related
Ensembl:ENSG00000051523 MIM:608508; AllianceGenome:HGNC:2577
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGD4; p22-PHOX
Summary
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]
Expression
Broad expression in bone marrow (RPKM 72.4), spleen (RPKM 55.1) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88643289..88651053, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94711169..94718983, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88709697..88717461, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88701182-88702111 Neighboring gene uncharacterized LOC124903755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88707025-88707852 Neighboring gene interleukin 17C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88715799-88716694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88716695-88717588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88717589-88718483 Neighboring gene mevalonate diphosphate decarboxylase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7866 Neighboring gene SNAI3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88743941-88744698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88744699-88745454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88747432-88748253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11365 Neighboring gene snail family transcriptional repressor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7868

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterization of missense mutations in the NADPH oxidase partner p22(phox) in the A22° subtype of chronic granulomatous disease. Kawai C, et al. Microbiol Immunol, 2023 Apr. PMID 36606663
  2. Impact of CYBA genotypes on severity and progression of multiple sclerosis. Törnell A, et al. Eur J Neurol, 2022 May. PMID 35073438, Free PMC Article
  3. Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia. Hu K, et al. Int J Gynaecol Obstet, 2022 Sep. PMID 34825364
  4. Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase p22phox subunit polymorphisms, systemic oxidative stress, endothelial dysfunction, and atherosclerosis in type 2 diabetes mellitus. Osmenda G, et al. Pol Arch Intern Med, 2021 May 25. PMID 33851807
  5. The association between CYBA gene C242T variant and risk of metabolic syndrome. Pourgholi L, et al. Eur J Clin Invest, 2020 Sep. PMID 32406080

See all (345) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structure of human phagocyte NADPH oxidase in the activated state.
    Title: Structure of human phagocyte NADPH oxidase in the activated state.
  2. CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.
    Title: CYBA as a Potential Biomarker for Renal Cell Carcinoma: Evidence from an Integrated Genetic Analysis.
  3. CYBA allelic variants are associated with severity and recovery in Guillain-Barre syndrome.
    Title: CYBA allelic variants are associated with severity and recovery in Guillain-Barré syndrome.
  4. Characterization of missense mutations in the NADPH oxidase partner p22[phox] in the A22 degrees subtype of chronic granulomatous disease.
    Title: Characterization of missense mutations in the NADPH oxidase partner p22(phox) in the A22° subtype of chronic granulomatous disease.
  5. ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
    Title: ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
  6. Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.
    Title: Polymorphic Variants of AGT, ABCA1, and CYBA Genes Influence the Survival of Patients with Coronary Artery Disease: A Prospective Cohort Study.
  7. Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.
    Title: Association of CYBA C242T and superoxide dismutase 2 A16V genetic variants with preeclampsia.
  8. Impact of CYBA genotypes on severity and progression of multiple sclerosis.
    Title: Impact of CYBA genotypes on severity and progression of multiple sclerosis.
  9. Urinary Sediment mRNA Level of CREBBP and CYBA in Children With Steroid-Resistant Nephrotic Syndrome.
    Title: Urinary Sediment mRNA Level of CREBBP and CYBA in Children With Steroid-Resistant Nephrotic Syndrome.
  10. Myeloperoxidase and CYBA genetic variants in polycystic ovary syndrome.
    Title: Myeloperoxidase and CYBA genetic variants in polycystic ovary syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (247)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef A specific physical association between HIV-1 Nef (amino acids 105-109) and the p22-phox component ( amino acids 126-129) of the NADPH oxidase complex is demonstrated by biochemistry and computer analysis PubMed
Tat tat HIV-1 Tat and cocaine treatment upregulates the expression of NADPH oxidase-p22Phox in human pulmonary arterial smooth muscle cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43590, FLJ99071

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables electron transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to superoxide-generating NAD(P)H oxidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytochrome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in hydrogen peroxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in mucus secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of defense response to bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of interleukin-6 production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mucus secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phagocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of reactive oxygen species biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of toll-like receptor 2 signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of tumor necrosis factor production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
  
involved_in respiratory burst IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in respiratory burst NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in smooth muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in superoxide anion generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in superoxide metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of NADPH oxidase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of NADPH oxidase complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of NADPH oxidase complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in phagocytic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in secretory granule TAS
Traceable Author Statement
more info
 PubMed 
located_in specific granule membrane TAS
Traceable Author Statement
more info
  
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cytochrome b-245 light chain
Names
cytochrome b light chain
cytochrome b(558) alpha chain
cytochrome b(558) alpha-subunit
cytochrome b, alpha polypeptide
cytochrome b-245, alpha polypeptide
cytochrome b558 subunit alpha
flavocytochrome b-558 alpha polypeptide
neutrophil cytochrome b 22 kDa polypeptide
p22 phagocyte B-cytochrome
p22phox
superoxide-generating NADPH oxidase light chain subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007291.1 RefSeqGene

    Range
    4966..12761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_52

mRNA and Protein(s)

  1. NM_000101.4 → NP_000092.2  cytochrome b-245 light chain

    See identical proteins and their annotated locations for NP_000092.2

    Status: VALIDATED

    Source sequence(s)
    AC116552
    Consensus CDS
    CCDS32504.1
    UniProtKB/Swiss-Prot
    P13498, Q14090, Q9BR72
    UniProtKB/TrEMBL
    A0A8Q3WL20
    Related
    ENSP00000261623.3, ENST00000261623.8
    Conserved Domains (1) summary
    pfam05038
    Location:9 → 193
    Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    88643289..88651053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522905.4 → XP_011521207.1  cytochrome b-245 light chain isoform X1

    UniProtKB/TrEMBL
    H3BNP7
    Related
    ENSP00000454951.1, ENST00000567174.5
    Conserved Domains (1) summary
    pfam05038
    Location:9 → 126
    Cytochrom_B558a; Cytochrome Cytochrome b558 alpha-subunit

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    94711169..94718983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379693.1 → XP_054235668.1  cytochrome b-245 light chain isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P13498.3 GenPept UniProtKB/Swiss-Prot:P13498

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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