Gene table of CYBB : cytochrome b-245 beta chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CYBB	OMIM link	Number of associated genes	genes
300645	IMMUNODEFICIENCY 34	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CYBB
PS306400	GRANULOMATOUS DISEASE, CHRONIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	CYBA, CYBB, NCF1, NCF2, NCF4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
HIF-1 signaling pathway	hsa04066	5.9
Leukocyte transendothelial migration	hsa04670	5.74
Phagosome	hsa04145	5.27
Osteoclast differentiation	hsa04380	5.64

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Infectious disease	R-HSA-5663205	4.47
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7
RHO GTPase Effectors	R-HSA-195258	4.94
RHO GTPases Activate NADPH Oxidases	R-HSA-5668599	9.52
Signaling by VEGF	R-HSA-194138	4.66
Antigen processing-Cross presentation	R-HSA-1236975	5.88
Cross-presentation of particulate exogenous antigens (phagosomes)	R-HSA-1236973	9.98
Immune System	R-HSA-168256	2.37
Signaling by Rho GTPases	R-HSA-194315	4.43
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Signal Transduction	R-HSA-162582	1.78
Latent infection of Homo sapiens with Mycobacterium tuberculosis	R-HSA-1222352	7.89
Phagosomal maturation (early endosomal stage)	R-HSA-1222556	7.89
Adaptive Immune System	R-HSA-1280218	3.19
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
superoxide-generating NADPH oxidase activity	GO:0016175	7.34
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
oxidoreductase activity	GO:0016491	3.12
coenzyme binding	GO:0050662	4.53
flavin adenine dinucleotide binding	GO:0050660	5.41
oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	GO:0050664	6.97
protein heterodimerization activity	GO:0046982	3.64
ion binding	GO:0043167	1.36
substrate-specific channel activity	GO:0022838	3.67
passive transmembrane transporter activity	GO:0022803	3.6
metal ion binding	GO:0046872	1.41
gated channel activity	GO:0022836	3.96
heme binding	GO:0020037	4.86
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
electron carrier activity	GO:0009055	4.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
tetrapyrrole binding	GO:0046906	4.8
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
oxidoreductase activity, acting on NAD(P)H	GO:0016651	5.13
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
voltage-gated ion channel activity	GO:0005244	4.49