Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1535
Gene name	Cytochrome b-245 alpha chain
Gene symbol	CYBA
Synonyms (NCBI Gene)	CGD4p22-PHOX
Chromosome	16
Chromosome location	16q24.2
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

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4673	A>G,T	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs28941476	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894510	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894511	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894513	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894514	G>A,T	Not-provided, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs104894515	G>T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs114610092	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, stop gained
rs119103269	C>A,T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs179363890	A>G	Pathogenic	Coding sequence variant, missense variant
rs179363892	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs377055239	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs779809359	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1352931329	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1439134665	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567607736	G>-	Pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, frameshift variant
rs1567608830	CACCGAGAGCCTGGGG>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1567608853	G>C	Pathogenic	Intron variant
rs1567609091	C>T	Pathogenic	Splice donor variant
rs1597374562	G>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046446	hsa-miR-15b-5p	CLASH	23622248
MIRT044553	hsa-miR-320a	CLASH	23622248

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0003106	Process	Negative regulation of glomerular filtration by angiotensin	IEA
GO:0005515	Function	Protein binding	IPI	3305576, 11733522, 15824103, 16326715, 16460309, 17126813, 17140397, 17803994, 22808130, 23957209, 35031518
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA	17140397
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	IMP	1763037, 2243141
GO:0006954	Process	Inflammatory response	IMP	2243141
GO:0009055	Function	Electron transfer activity	IDA	12042318
GO:0009055	Function	Electron transfer activity	TAS	2243141
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0014823	Process	Response to activity	IEA
GO:0014895	Process	Smooth muscle hypertrophy	IEA
GO:0014895	Process	Smooth muscle hypertrophy	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IMP	1763037
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0017004	Process	Cytochrome complex assembly	IDA	7938008
GO:0017124	Function	SH3 domain binding	IPI	7938008
GO:0020037	Function	Heme binding	IEA
GO:0030141	Component	Secretory granule	TAS	12005167
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	22423966
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	22423966
GO:0032930	Process	Positive regulation of superoxide anion generation	IEA
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IDA	22423966
GO:0035579	Component	Specific granule membrane	TAS
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042554	Process	Superoxide anion generation	IMP	2243141
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	3305576, 22423966, 36241643, 36413210, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	IMP	1763037
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043025	Component	Neuronal cell body	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	2243141
GO:0045087	Process	Innate immune response	ISS
GO:0045730	Process	Respiratory burst	IMP	2243141
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12042318
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IDA	22423966
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070254	Process	Mucus secretion	IEA
GO:0070257	Process	Positive regulation of mucus secretion	IEA
GO:0070555	Process	Response to interleukin-1	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0097038	Component	Perinuclear endoplasmic reticulum	IEA
GO:1900426	Process	Positive regulation of defense response to bacterium	IDA	22423966
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	IDA	22423966
GO:1904044	Process	Response to aldosterone	IEA
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904628	Process	Cellular response to phorbol 13-acetate 12-myristate	IEA
GO:1904845	Process	Cellular response to L-glutamine	IEA

MIM	HGNC	e!Ensembl
608508	2577	ENSG00000051523

P13498

Protein name

Cytochrome b-245 light chain (Cytochrome b(558) alpha chain) (Cytochrome b558 subunit alpha) (Neutrophil cytochrome b 22 kDa polypeptide) (Superoxide-generating NADPH oxidase light chain subunit) (p22 phagocyte B-cytochrome) (p22-phox) (p22phox)

Protein function

Subunit of NADPH oxidase complexes that is required for the NADPH oxidase activity that generates, in various cell types, superoxide from molecular oxygen utilizing NADPH as an electron donor (PubMed:15824103, PubMed:17140397, PubMed:38355798).

PDB

1WLP , 7U8G , 7YXW , 8GZ3 , 8KEI , 8WEJ , 8X2L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05038	Cytochrom_B558a	2 → 193	Cytochrome Cytochrome b558 alpha-subunit	Family

Sequence

MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRK
KGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGI
YLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPP
GGPQVNPIPVTDEVV

Sequence length

195

Interactions

View interactions

	KEGG		Reactome
	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation NOD-like receptor signaling pathway Leukocyte transendothelial migration Prion disease Leishmaniasis Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy Lipid and atherosclerosis Fluid shear stress and atherosclerosis		ROS and RNS production in phagocytes Cross-presentation of particulate exogenous antigens (phagosomes) Detoxification of Reactive Oxygen Species VEGFA-VEGFR2 Pathway RHO GTPases Activate NADPH Oxidases Neutrophil degranulation WNT5:FZD7-mediated leishmania damping

530

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chronic granulomatous disease	Likely pathogenic; Pathogenic	rs1191361764, rs1352931329, rs1272232395, rs104894514, rs104894515, rs104894511, rs28941476, rs1567608830, rs779809359, rs771926427, rs179363892, rs179363894, rs113932941, rs747774702	RCV001826131 RCV001831390 RCV005429377 RCV001731273 RCV000208600 RCV001826407 RCV001274006 RCV003317353 RCV001830682 RCV004526773 RCV001271457 RCV004526610 RCV001828796 RCV001828951
CYBA-related disorder	Likely pathogenic; Pathogenic	rs179363892, rs1439134665	RCV003893090 RCV004757277
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Pathogenic; Likely pathogenic	rs1284271131, rs905944088, rs2142873834, rs2142875237, rs1445023836, rs1191361764, rs1352931329, rs2142877263, rs1272232395, rs1326361967, rs758709616, rs179363892, rs2142883490, rs1907355667, rs104894513 View all (33 more)	RCV001335108 RCV001377368 RCV001377396 RCV001378333 RCV001379559 RCV001377848 RCV001384757 RCV001383797 RCV002015070 RCV001975164 RCV001864543 RCV002036378 RCV001975001 RCV002001450 RCV000002346 RCV000002347 RCV000002348 RCV000002350 RCV000002352 RCV000002353 RCV000002354 RCV000002355 RCV003064361 RCV003064363 RCV002754998 RCV002736564 RCV002876405 RCV002966868 RCV003021493 RCV003498167 RCV003499993 RCV003498480 RCV003604268 RCV003602901 RCV003603018 RCV003603771 RCV003821216 RCV003842991 RCV003867025 RCV003990745 RCV002536414 RCV000757944 RCV000757945 RCV001384756 RCV000818649 RCV000805167 RCV000796683 RCV000687649 RCV003497833 RCV001069145 RCV001580564 RCV001211585 RCV001225987 RCV001225583 RCV001240485
Polyglandular autoimmune syndrome, type 1	Likely pathogenic; Pathogenic	rs179363894	RCV004542731

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs200590340	RCV005900217
Colon adenocarcinoma	Uncertain significance	rs868210009	RCV005902035
CYBA POLYMORPHISM	Benign	rs4673	RCV000002351
Familial cancer of breast	Uncertain significance	rs200590340	RCV005900216
Granulomatous disease, chronic, X-linked	Likely benign	rs758314115	RCV001271477
See cases	Conflicting classifications of pathogenicity	rs377055239	RCV002252083
Very early onset inflammatory bowel disease	Benign	rs4673	RCV000736011

Show/Hide Text Mining Associations (77)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Stimulate	23506637
Alzheimer Disease	Associate	35954209
Anal Gland Neoplasms	Associate	29454792
Arthritis Rheumatoid	Associate	33145364
Atherosclerosis	Associate	16788250, 17620958, 21622150, 33851807
Autoimmune enteropathy	Associate	32081864
Brain Abscess	Associate	36705996
Carcinoma Hepatocellular	Associate	27740521
Carcinoma Renal Cell	Associate	37643785
Cardiotoxicity	Associate	23576480
Cardiovascular Diseases	Associate	15255799, 21045268, 21622150, 22919264
Cerebral Infarction	Associate	21963893
Chest Pain	Associate	16788250
Chromosome Aberrations	Associate	18422995
Cognition Disorders	Associate	21902598
Colitis Ulcerative	Associate	25599773
Coronary Artery Disease	Associate	15255799, 16788250, 24477591, 27314008, 36421822
Coronary Disease	Associate	20581851, 34883250
Coronary Stenosis	Associate	16788250
Coronary Vasospasm	Associate	16998253
Crohn Disease	Associate	29454792
Death	Associate	36421822
Diabetes Mellitus	Associate	12226552, 21622150
Diabetes Mellitus Type 1	Associate	21962117
Diabetes Mellitus Type 2	Associate	21622150, 23701472, 33851807, 34883250
Diabetic Nephropathies	Associate	21962117, 33161510
Dystonic Disorders	Associate	19279361
Endometrial Neoplasms	Associate	37322935
Essential Hypertension	Associate	17620958, 23701472
Fabry Disease	Associate	30261035
Glioblastoma	Associate	34646273
Glomerulonephritis	Associate	26627442
Granulomatous Disease Chronic	Associate	10627478, 10706888, 10759707, 10910929, 1332032, 1415254, 1763037, 18422995, 22924696, 28356734, 28830888, 29132304, 30506560, 31364312, 33717137 View all (11 more)
Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I	Associate	10910929, 18422995
Heart Diseases	Associate	23576480
Hodgkin Disease	Associate	24376854
Hypertension	Associate	15671602, 17620958, 19516159, 21884584, 24339896, 27314008
Hypertrophy Left Ventricular	Associate	27314008
Hypoxia	Associate	30367082
Idiopathic Pulmonary Fibrosis	Associate	40294812
Immune System Diseases	Associate	35482138
Inflammation	Associate	21054584, 28830888, 34944413
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	30709874
Inflammatory Bowel Diseases	Associate	30709874, 39273699
Insulin Resistance	Associate	12226552
Kidney Diseases	Associate	21962117
Kidney Failure Chronic	Associate	21045268, 26627442
Leukemia Myeloid Acute	Associate	22807997
Macular Degeneration	Stimulate	31485293
MASS syndrome	Associate	21884584
Melanoma	Associate	29342889
Metabolic Syndrome	Associate	22396743
Methemoglobin Reductase Deficiency	Associate	29132304
Multiple Sclerosis	Associate	35073438
Multiple Sclerosis Chronic Progressive	Associate	35073438
Myelodysplastic Syndromes	Associate	24719867
Myocardial Infarction	Associate	15255799, 16998253
Necrosis	Associate	23576480
Neoplasms	Inhibit	20304964
Neoplasms	Associate	37322935, 37643785
Nephrotic Syndrome	Inhibit	35173708
Neural Tube Defects	Associate	12962720
Obesity	Associate	24477591, 27765769
Osteoarthritis	Associate	38292759
Overweight	Associate	24477591
Pancreatic Neoplasms	Associate	21118808
Primary Immunodeficiency Diseases	Associate	32081864, 36122532
Pulmonary Arterial Hypertension	Associate	15255799, 23701472
Pulmonary Edema	Associate	34883250
Sleep Apnea Obstructive	Associate	21872458, 21902598, 31819149
Sleep Wake Disorders	Associate	31819149
Squamous Cell Carcinoma of Head and Neck	Associate	25686830
Subarachnoid Hemorrhage	Associate	16998253
Uterine Cervical Neoplasms	Associate	25307973
Vascular Diseases	Associate	33851807
von Hippel Lindau Disease	Inhibit	17200123
Weight Loss	Associate	34883250

CYBA (cytochrome b-245 alpha chain)