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

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1536
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome b-245 beta chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CYBB
Synonyms (NCBI Gene) Gene synonyms aliases	AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp21.1-p11.4
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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(157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438000	hsa-miR-34a-5p	Western blot	24393844
MIRT438000	hsa-miR-34a-5p	Western blot	24393844
MIRT668855	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668854	hsa-miR-6859-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT668855	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668854	hsa-miR-6859-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT919804	hsa-miR-10a	CLIP-seq
MIRT919805	hsa-miR-10b	CLIP-seq
MIRT919806	hsa-miR-1207-5p	CLIP-seq
MIRT919807	hsa-miR-1245b-3p	CLIP-seq
MIRT919808	hsa-miR-1267	CLIP-seq
MIRT919809	hsa-miR-1298	CLIP-seq
MIRT919810	hsa-miR-1323	CLIP-seq
MIRT919811	hsa-miR-200b	CLIP-seq
MIRT919812	hsa-miR-200c	CLIP-seq
MIRT919813	hsa-miR-219-2-3p	CLIP-seq
MIRT919814	hsa-miR-2964a-3p	CLIP-seq
MIRT919815	hsa-miR-3162-5p	CLIP-seq
MIRT919816	hsa-miR-3190	CLIP-seq
MIRT919817	hsa-miR-345	CLIP-seq
MIRT919818	hsa-miR-3662	CLIP-seq
MIRT919819	hsa-miR-370	CLIP-seq
MIRT919820	hsa-miR-3978	CLIP-seq
MIRT919821	hsa-miR-429	CLIP-seq
MIRT919822	hsa-miR-4293	CLIP-seq
MIRT919823	hsa-miR-4330	CLIP-seq
MIRT919824	hsa-miR-4470	CLIP-seq
MIRT919825	hsa-miR-4517	CLIP-seq
MIRT919826	hsa-miR-4667-5p	CLIP-seq
MIRT919827	hsa-miR-4670-3p	CLIP-seq
MIRT919828	hsa-miR-4700-5p	CLIP-seq
MIRT919829	hsa-miR-4718	CLIP-seq
MIRT919830	hsa-miR-4724-5p	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT919832	hsa-miR-4742-3p	CLIP-seq
MIRT919833	hsa-miR-4752	CLIP-seq
MIRT919834	hsa-miR-4760-3p	CLIP-seq
MIRT919835	hsa-miR-4763-3p	CLIP-seq
MIRT919836	hsa-miR-4797-3p	CLIP-seq
MIRT919837	hsa-miR-486-3p	CLIP-seq
MIRT919838	hsa-miR-495	CLIP-seq
MIRT919839	hsa-miR-548o	CLIP-seq
MIRT919840	hsa-miR-579	CLIP-seq
MIRT919841	hsa-miR-637	CLIP-seq
MIRT919842	hsa-miR-653	CLIP-seq
MIRT919843	hsa-miR-664	CLIP-seq
MIRT919844	hsa-miR-668	CLIP-seq
MIRT919845	hsa-miR-935	CLIP-seq
MIRT1972649	hsa-miR-1237	CLIP-seq
MIRT1972650	hsa-miR-1248	CLIP-seq
MIRT1972651	hsa-miR-128	CLIP-seq
MIRT1972652	hsa-miR-3189-3p	CLIP-seq
MIRT1972653	hsa-miR-4260	CLIP-seq
MIRT1972654	hsa-miR-4659a-3p	CLIP-seq
MIRT1972655	hsa-miR-4659b-3p	CLIP-seq
MIRT1972656	hsa-miR-4778-3p	CLIP-seq
MIRT919811	hsa-miR-200b	CLIP-seq
MIRT919812	hsa-miR-200c	CLIP-seq
MIRT2208253	hsa-miR-205	CLIP-seq
MIRT2208254	hsa-miR-2114	CLIP-seq
MIRT2208255	hsa-miR-3647-3p	CLIP-seq
MIRT2208256	hsa-miR-4282	CLIP-seq
MIRT919821	hsa-miR-429	CLIP-seq
MIRT2208257	hsa-miR-4793-5p	CLIP-seq
MIRT2208258	hsa-miR-513a-3p	CLIP-seq
MIRT2208259	hsa-miR-554	CLIP-seq
MIRT919844	hsa-miR-668	CLIP-seq
MIRT1972649	hsa-miR-1237	CLIP-seq
MIRT1972650	hsa-miR-1248	CLIP-seq
MIRT1972652	hsa-miR-3189-3p	CLIP-seq
MIRT1972654	hsa-miR-4659a-3p	CLIP-seq
MIRT1972655	hsa-miR-4659b-3p	CLIP-seq
MIRT1972656	hsa-miR-4778-3p	CLIP-seq
MIRT2511944	hsa-miR-1238	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT2511945	hsa-miR-490-5p	CLIP-seq
MIRT2511946	hsa-miR-7	CLIP-seq
MIRT2511944	hsa-miR-1238	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT2511945	hsa-miR-490-5p	CLIP-seq
MIRT2511946	hsa-miR-7	CLIP-seq

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(72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	3305576, 22808130, 28351984, 32296183
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15233623, 15338276, 22808130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0006801	Process	Superoxide metabolic process	IDA	12042318
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	TAS	12716910
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006952	Process	Defense response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0006954	Process	Inflammatory response	TAS	7719350
GO:0007584	Process	Response to nutrient	IEA
GO:0009055	Function	Electron transfer activity	IDA	12042318
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IDA	12042318
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS	12716910
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IMP	9774399
GO:0030171	Function	Voltage-gated proton channel activity	IDA	11477065, 12034764
GO:0030425	Component	Dendrite	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	12042318, 15338276, 36241643, 36413210, 38355798
GO:0042554	Process	Superoxide anion generation	TAS	12716910
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	3305576, 15338276, 36241643, 36413210, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043020	Component	NADPH oxidase complex	TAS	12716910
GO:0043025	Component	Neuronal cell body	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	9774399
GO:0045087	Process	Innate immune response	ISS
GO:0045087	Process	Innate immune response	TAS	12716910
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045730	Process	Respiratory burst	IMP	9774399
GO:0045730	Process	Respiratory burst	NAS	27048830
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:0050660	Function	Flavin adenine dinucleotide binding	IMP	9774399
GO:0050664	Function	Oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0070402	Function	NADPH binding	IDA	36413210, 38355798
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:0071456	Process	Cellular response to hypoxia	IEA
GO:0071949	Function	FAD binding	IDA	36413210, 38355798
GO:0097038	Component	Perinuclear endoplasmic reticulum	IEA
GO:0097411	Process	Hypoxia-inducible factor-1alpha signaling pathway	IEA
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IDA	15338276, 36241643, 36413210, 38355798
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IEA
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IMP	15338276
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

NADPH oxidase 2 (EC 1.6.3.-) (CGD91-phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Cytochrome b-245 heavy chain) (Heme-binding membrane glycoprotein gp91phox) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide-generating NADP

Protein function

Catalytic subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:15338276, PubMed:36241643, PubMed:36413210, PubMed:38355798). In the acti

PDB

3A1F , 7U8G , 8GZ3 , 8KEI , 8WEJ , 8X2L

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

Tissue specificity

TISSUE SPECIFICITY: Detected in neutrophils (at protein level). {ECO:0000269|PubMed:19028840}.

Sequence

MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
ALAETLSKQSISNSESGPRGVHFIFNKENF

Sequence length

570

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Granulomatous Disease	granulomatous disease, chronic, x-linked, chronic granulomatous disease	rs886041194, rs137854590, rs1556469197, rs1569478551, rs1602183244, rs151344454, rs886041192, rs137854591, rs1556471620, rs387906486, rs151344455, rs151344481, rs1057517730, rs137854596, rs1569479943 View all (47 more)	N/A

Show/Hide Text Mining Associations (132)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Stimulate	23506637
Acute Lung Injury	Associate	33757467
Adenocarcinoma	Associate	32509861
Adenocarcinoma of Lung	Inhibit	36633128
Adenocarcinoma of Lung	Associate	40682067
Adrenoleukodystrophy	Associate	20724480, 21659519
Anal Gland Neoplasms	Associate	29454792
Anemia Sickle Cell	Stimulate	17654682
Anophthalmia with pulmonary hypoplasia	Associate	38598844
Aortic Aneurysm Abdominal	Associate	28735510, 35320939, 40775512
Arthritis Psoriatic	Stimulate	21811995
Arthritis Rheumatoid	Associate	30915077
Asthma	Stimulate	25514499
Atherosclerosis	Associate	39702436
Atrial Fibrillation	Associate	35305619
Autoimmune Diseases	Associate	28135245, 30924925, 38442270
Bipolar Disorder	Inhibit	28809856
Blood Platelet Disorders	Associate	28630469
Brain Injuries Traumatic	Associate	23894384
Breast Neoplasms	Associate	26177467, 33020304
Bronchopulmonary Dysplasia	Associate	36193058
Carcinoma Hepatocellular	Associate	27740521, 28894215
Carcinoma Non Small Cell Lung	Associate	30273693
Carcinoma Squamous Cell	Associate	31706280
Cardiomyopathies	Associate	24328853
Cardiomyopathy Dilated	Associate	28600985
Cardiovascular Diseases	Associate	36035865
Carotid Artery Diseases	Associate	34140767
Chronic Urticaria	Associate	36531995
Cognition Disorders	Associate	21902598
Colonic Neoplasms	Associate	33838628
Colorectal Neoplasms	Associate	26116564
COVID 19	Associate	34341659, 36493512, 37335656
Crohn Disease	Associate	29454792, 33882797
Cyclic neutropenia	Associate	37705244
Death	Associate	34341659
Diabetes Mellitus Type 2	Stimulate	28076881
Diabetic Nephropathies	Associate	37038746
Down Syndrome	Associate	27173257
Ectodermal Dysplasia	Associate	18523147
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	40646440
Gastritis	Associate	36973348
Gastroesophageal Reflux	Associate	28855537
Glioblastoma	Associate	26136341
Glioma	Associate	37277492
Glomerulonephritis IGA	Associate	34861820, 35418061
Glomerulonephritis Membranous	Associate	37876929
Glucose Intolerance	Stimulate	35334956
Glucosephosphate Dehydrogenase Deficiency	Associate	14978696
Granulomatous Disease Chronic	Associate	10068684, 10233904, 10452961, 10627478, 10706888, 10828042, 11122248, 11435314, 11477065, 11566256, 11926990, 11997079, 11997083, 12094329, 1332032 View all (93 more)
Granulomatous Disease Chronic	Inhibit	33717137
Head and Neck Neoplasms	Associate	26354779
Heart Diseases	Associate	12610097
Hepatic Encephalopathy	Stimulate	36424620
Hereditary leiomyomatosis and renal cell cancer	Associate	24376854
HIV Infections	Stimulate	28314381
Hodgkin Disease	Associate	18671701, 24376854
Hyperinsulinism	Stimulate	28600985
Hypoxia	Associate	22865553
Immune System Diseases	Associate	28314381
Immunoglobulin Light chain Amyloidosis	Associate	32922167
Immunologic Deficiency Syndromes	Inhibit	37434114
Infarction	Associate	34819349
Infections	Stimulate	27048452
Inflammation	Associate	28830888, 34224783, 34834040, 38598844
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	32081864
Inflammatory Bowel Diseases	Associate	22467146, 33098164, 37434114, 39273699
Intraabdominal Infections	Associate	35365205
Klinefelter Syndrome	Associate	23859418
Leiomyoma	Associate	24520084
Leukemia	Associate	2496143, 35172562, 39694125
Leukemia Lymphocytic Chronic B Cell	Associate	36764627, 37629695
Leukemia Myeloid Acute	Associate	22550344, 35073432, 35172562
Leukemia Promyelocytic Acute	Associate	39694125
Lupus Erythematosus Systemic	Associate	28135245, 38442270
Lupus Nephritis	Associate	35418061, 39224582
Lymphadenitis	Associate	33098164
Lymphoma	Associate	22229863
Lymphoma B Cell Marginal Zone	Associate	22229863
Lymphoma Non Hodgkin	Associate	36945359
Melanoma	Associate	11997235
Methemoglobin Reductase Deficiency	Associate	29132304
Mitochondrial Diseases	Associate	36764627
Multiple Myeloma	Associate	32922167
Multiple Sclerosis	Stimulate	33354282
Multiple Sclerosis	Associate	35073438
Multiple Sclerosis Chronic Progressive	Associate	35073438
Mycoses	Associate	37434114
Myelodysplastic Syndromes	Associate	24719867, 34680870, 37705244
Myocardial Infarction	Stimulate	12610097
Myocardial Infarction	Associate	34819349, 37246754
Nasal Polyps	Associate	36466903
Nasopharyngeal Carcinoma	Associate	22013061
Neoplasm Metastasis	Associate	28894215, 38598844
Neoplasms	Associate	1357659, 18671701, 18682599, 26034362, 26136341, 28894215, 33020304, 36633128
Neoplasms Adipose Tissue	Associate	34260117
Neoplastic Syndromes Hereditary	Associate	15629370
Neural Tube Defects	Inhibit	12962720
Neural Tube Defects	Associate	37705244
Neuroacanthocytosis Mcleod Type	Associate	17300882
Niemann Pick Disease Type C	Associate	33204320
Obesity	Stimulate	24973227
Osteoarthritis	Associate	31146598
Osteoarthritis Knee	Associate	27777643
Osteoporosis	Associate	36973348
Ovarian Neoplasms	Associate	29482638, 31641008
Pancreatic Neoplasms	Associate	38598844
pediatric multisystem inflammatory disease COVID 19 related	Associate	34224783
Peri Implantitis	Associate	32996143
Periodontal Diseases	Associate	35766184
Phyllodes Tumor	Associate	37240386
Pneumonia	Associate	24328853, 33098164
Postpartum Thyroiditis	Associate	37569597
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	16138344
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	35603962
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	33022753, 37806599
Proteinuria	Stimulate	39224582
Pulmonary Disease Chronic Obstructive	Inhibit	36846109
Respiratory Tract Infections	Associate	35451380
Sarcoidosis	Associate	24768588
Sarcoidosis Pulmonary	Stimulate	39364409
Serratia Infections	Associate	25537876
Signs and Symptoms Digestive	Associate	37434114
Sinusitis	Associate	33098164
Sleep Apnea Obstructive	Associate	21902598
Spinal Cord Injuries	Associate	33863336
Stomach Neoplasms	Associate	26034362, 32021099, 38425243
Substance Related Disorders	Inhibit	28809856
Tuberculosis	Associate	33098164
Uterine Cervical Neoplasms	Associate	31706280
Vasculitis	Associate	35172670
Venous Insufficiency	Stimulate	32141705

CYBB (cytochrome b-245 beta chain)