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CYBB (cytochrome b-245 beta chain)

Gene

1536

Cytochrome b-245 beta chain

CYBB

AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX

Xp21.1-p11.4

Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell`s respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]

Show/Hide all(78)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854585	C>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854586	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854587	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854588	C>T	Pathogenic	Coding sequence variant, stop gained
rs137854589	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854590	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854591	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854592	C>T	Pathogenic	Coding sequence variant, stop gained
rs137854593	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854594	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854595	C>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854596	C>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs151344454	T>C	Pathogenic	Missense variant, coding sequence variant
rs151344474	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs151344481	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs151344482	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs151344497	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs151344498	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs193922445	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922446	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922448	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922449	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs193922450	C>A,T	Likely-pathogenic, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs200129367	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs387906485	G>A,T	Pathogenic	Synonymous variant, coding sequence variant
rs387906486	CCG>GGT	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs782424820	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039333	G>T	Pathogenic	Splice donor variant
rs886039334	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039335	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039336	A>T	Pathogenic	Splice acceptor variant
rs886039337	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039338	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039563	G>C	Pathogenic	Missense variant, coding sequence variant
rs886041191	->AGGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041192	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041193	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041194	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886041195	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041312	ATTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041582	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517730	AGTG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1057518579	A>C	Pathogenic	Splice acceptor variant
rs1057521937	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794086	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691401	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691828	G>T	Pathogenic	Splice donor variant
rs1131691836	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1453468510	->T	Pathogenic	Stop gained, coding sequence variant
rs1556464116	TTTGTCATTGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1556464542	GCTGGGGTTGAACGTCTTCCTCTTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556464554	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556464581	G>T	Likely-pathogenic	Splice donor variant
rs1556464882	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556468360	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556468363	->ACTT	Pathogenic	Frameshift variant, coding sequence variant
rs1556469197	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556470775	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556470794	G>T	Pathogenic	Stop gained, coding sequence variant
rs1556471620	G>A	Likely-pathogenic	Splice acceptor variant
rs1556472628	->GTATGTGCTTTTACAGAATGTCTCTTTTTTTTCTGAATTCATGTCCTTTCCTGTAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTCAAGACAATTGCAAGTCAACACCCTAAGTAAGGAGTCTGTCACCAAGATGTTTTTGAGGCTTGCATCTGCCTAAAGCGGCAGCCCCTATACATAT	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1556473078	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556473119	G>A	Pathogenic	Missense variant, coding sequence variant
rs1569478551	T>C	Pathogenic	Intron variant
rs1569479943	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569479953	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569480031	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569480333	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602173465	T>-	Likely-pathogenic	Splice donor variant
rs1602175016	G>A	Pathogenic	Intron variant
rs1602182150	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602183161	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602183244	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602183679	C>G	Pathogenic	Coding sequence variant, stop gained
rs1602183698	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602184316	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602185687	G>A	Likely-pathogenic	Splice acceptor variant
rs1602185766	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438000	hsa-miR-34a-5p	Western blot	24393844
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT668854	hsa-miR-6859-3p	HITS-CLIP	23824327
MIRT668855	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT735084	hsa-miR-106b-5p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28235791
MIRT735085	hsa-miR-148b-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28235791
MIRT735086	hsa-miR-204-5p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28235791

Transcription factors

Show/Hide all(10)

Transcription factor	Regulation	Reference
CUX1	Activation	14605447
ELF1	Unknown	10233904
EP300	Repression	14605447
GATA1	Activation	10734088
GATA2	Repression	10734088
IRF1	Activation	9593745
IRF8	Activation	9593745
SATB1	Repression	14605447
SPI1	Activation	9593745
SPI1	Unknown	10233904

Show/Hide all(54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0005244	Function	Voltage-gated ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	3305576, 28351984, 32296183
GO:0005635	Component	Nuclear envelope	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	15233623
GO:0006801	Process	Superoxide metabolic process	IDA	12042318
GO:0006801	Process	Superoxide metabolic process	TAS	12716910
GO:0006952	Process	Defense response	IBA	21873635
GO:0006954	Process	Inflammatory response	ISS
GO:0007584	Process	Response to nutrient	IEA
GO:0009055	Function	Electron transfer activity	IDA	12042318
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IDA	12042318
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS	12716910
GO:0020037	Function	Heme binding	IMP	9774399
GO:0022900	Process	Electron transport chain	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042493	Process	Response to drug	IEA
GO:0042554	Process	Superoxide anion generation	IBA	21873635
GO:0042554	Process	Superoxide anion generation	IDA	12042318
GO:0042554	Process	Superoxide anion generation	TAS	12716910
GO:0043020	Component	NADPH oxidase complex	IBA	21873635
GO:0043020	Component	NADPH oxidase complex	IDA	3305576
GO:0043020	Component	NADPH oxidase complex	TAS	12716910
GO:0043025	Component	Neuronal cell body	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045087	Process	Innate immune response	IMP	9774399
GO:0045087	Process	Innate immune response	ISS
GO:0045087	Process	Innate immune response	TAS	12716910
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0045730	Process	Respiratory burst	IMP	9774399
GO:0045730	Process	Respiratory burst	TAS	12716910
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12042318
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0050660	Function	Flavin adenine dinucleotide binding	IMP	9774399
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0097038	Component	Perinuclear endoplasmic reticulum	IEA
GO:0097411	Process	Hypoxia-inducible factor-1alpha signaling pathway	IEA
GO:1904044	Process	Response to aldosterone	IEA
GO:1904845	Process	Cellular response to L-glutamine	IEA
GO:1990776	Process	Response to angiotensin	IEA

MIM	HGNC	e!Ensembl
300481	2578	ENSG00000165168

Protein

UniProt ID

P04839

Protein name

Cytochrome b-245 heavy chain (EC 1.-.-.-) (CGD91-phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Heme-binding membrane glycoprotein gp91phox) (NADPH oxidase 2) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide-generating NADPH oxidase heavy chain subunit) (gp91-1) (gp91-phox) (p22 phagocyte B-cytochrome)

Protein function

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.

PDB

3A1F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01794	Ferric_reduct	54 → 220	Ferric reductase like transmembrane component	Family
PF08022	FAD_binding_8	292 → 395	FAD-binding domain	Domain
PF08030	NAD_binding_6	401 → 551	Ferric reductase NAD binding domain	Domain

Sequence

MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
ALAETLSKQSISNSESGPRGVHFIFNKENF

Sequence length

570

Interactions

View interactions

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