CYBA - cytochrome b-245 alpha chain Gene

Also Known as CGD4; p22-PHOX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1535

About CYBA

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:88,643,289-88,651,053 (from NCBI)

This gene has 17 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 72.4), spleen (RPKM 55.1) and 18 other tissues.

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]

CYBA Products (1)

mRNA	Protein	Name
NM_000101.4	NP_000092.2	cytochrome b-245 light chain

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	7938008	GOA
enables electron transfer activity	IDA IDA: Inferred from direct assay	12042318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	3305576	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	12042318	GOA
contributes to superoxide-generating NAD(P)H oxidase activity	IMP IMP: Inferred from mutant phenotype	1763037	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytochrome complex assembly	IDA IDA: Inferred from direct assay	7938008	GOA
involved in inflammatory response	IMP IMP: Inferred from mutant phenotype	2243141	GOA
involved in innate immune response	IMP IMP: Inferred from mutant phenotype	2243141	GOA
involved in positive regulation of defense response to bacterium	IDA IDA: Inferred from direct assay	22423966	GOA
involved in positive regulation of interleukin-6 production	IDA IDA: Inferred from direct assay	22423966	GOA
involved in positive regulation of phagocytosis	IDA IDA: Inferred from direct assay	22423966	GOA
involved in positive regulation of reactive oxygen species biosynthetic process	IDA IDA: Inferred from direct assay	22423966	GOA
involved in positive regulation of toll-like receptor 2 signaling pathway	IDA IDA: Inferred from direct assay	22423966	GOA
involved in positive regulation of tumor necrosis factor production	IDA IDA: Inferred from direct assay	22423966	GOA
involved in respiratory burst	IMP IMP: Inferred from mutant phenotype	2243141	GOA
involved in superoxide anion generation	IMP IMP: Inferred from mutant phenotype	2243141	GOA
involved in superoxide metabolic process	IMP IMP: Inferred from mutant phenotype	1763037	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NADPH oxidase complex	IDA IDA: Inferred from direct assay	3305576	GOA
part of NADPH oxidase complex	IMP IMP: Inferred from mutant phenotype	1763037	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17140397	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYBA Protein Structure

Cytochrom_B558a

0
100
195 a.a.

Protein Preferred Names	Protein Names
cytochrome b-245 light chain	cytochrome b light chain

CYBA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CYBA	P13498	NOXO1	Homo sapiens	Q8NFA2-3	Pull Down	23957209
Intra	CYBA	P13498	NCF1	Homo sapiens	P14598	Far-WB	17803994
Intra	CYBA	P13498	NCF1	Homo sapiens	P14598	NMR	16326715
Intra	CYBA	P13498	NOXO1	Homo sapiens	Q8NFA2	Pull Down	16460309
Intra	CYBA	P13498	NOXO1	Homo sapiens	Q8NFA2	Pull Down	17126813

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Cyba Deficiency CGD4 Cgd Due To Deficiency Of The Alpha Subunit Of Cytochrome B Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative Cgd, Autosomal Recessive Cytochrome B-Negative Chronic Granulomatous Disease 4, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 4 Autosomal Recessive Cytochrome B-Negative Cgd Chronic Granulomatous Disease Due To Deficiency Of Cyba Cgd Due To Deficiency Of Alpha Subunit Of Cytochrome B Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Chronic Granulomatous Disease Due To Deficiency Of Ncf-1 CGD1 Ncf1 Deficiency Soluble Oxidase Component Ii Deficiency Soc2 Deficiency P47-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I Deficiency Of Neutrophil Cytosol Factor 1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Cgd, Autosomal Recessive Cytochrome B-Positive, Type I Granulomatous Disease, Chronic, Due To Ncf1 Deficiency Neutrophil Cytosol Factor 1 Deficiency Chronic Granulomatous Disease 1, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 1 Cdg1 Deficiency Of Ncf1 Deficiency Of P47-Phox Deficiency Of Soc2 Deficiency Of Soluble Oxidase Component Ii Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I Chronic Granulomatous Disease Due To Ncf1 Deficiency
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Chronic Granulomatous Disease Due To Deficiency Of Ncf-2 CGD2 Ncf2 Deficiency P67-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii Granulomatous Disease, Chronic, Due To Ncf2 Deficiency Neutrophil Cytosol Factor 2 Deficiency Chronic Granulomatous Disease 2, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 2 Cdg2 Deficiency Of Ncf2 Deficiency Of P67-Phox Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii Deficiency Of Neutrophil Cytosol Factor 2 Avellino Corneal Dystrophy
Atherosclerosis Susceptibility	Atherosclerosis Atherosclerosis, Susceptibility To ATHS Atherogenic Lipoprotein Phenotype Alp Arteriosclerosis
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Lung Abscess	Apical Lung Abscess Abscess Of Lung Abscess Of Lung Nos Pulmonary Abscess Multiple Abscess Of Lung
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Diabetes Mellitus	Diabetes
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149035	PAA4		/	Unkown
HY-RS03422	CYBA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19890	Cyba Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26390	Cyba Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CYBA	VGNC	VGNC:49140
Felis catus	CYBA	VGNC	VGNC:61312
Canis familiaris	CYBA	VGNC	VGNC:50284
Mus musculus	CYBA	MGD	MGI:1316658
Rattus norvegicus	CYBA	RGD	RGD:620573
Macaca mulatta	CYBA	VGNC	VGNC:71575
Others	CYBA	NCBI