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

Summary

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: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88643289..88651053, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94711169..94718983, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88709697..88717461, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population.
Title: Effect of the CYBA C242T Polymorphism on Preeclampsia Pathogenesis in the Chinese Population.
Structure of human phagocyte NADPH oxidase in the activated state.
Title: Structure of human phagocyte NADPH oxidase in the activated state.
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.
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.
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.
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.
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.
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.
Impact of CYBA genotypes on severity and progression of multiple sclerosis.
Title: Impact of CYBA genotypes on severity and progression of multiple sclerosis.
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.

Submit: New GeneRIF Correction See all GeneRIFs (248)

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

Associated conditions

Description	Tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MedGen: C1856255 OMIM: 233690 GeneReviews: Chronic Granulomatous Disease	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

STS-U49260 (e-PCR)
- UniSTS:38465

SHGC-60170 (e-PCR)
- UniSTS:58221

G62102 (e-PCR)
- UniSTS:139133

SHGC-60150 (e-PCR)
- UniSTS:26494

RH80030 (e-PCR)
- UniSTS:87680

D11S3114 (e-PCR)
- UniSTS:152207

RH68091 (e-PCR)
- UniSTS:26588

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 more info	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

NG_007291.1 RefSeqGene

Range

4966..12761

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_52

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

88643289..88651053 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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