Cybb Gene Detail

Summary

• Symbol
  Cybb
• Name
  cytochrome b-245, beta polypeptide
• Synonyms
  Cgd, gp91^phox, gp91phox, Nox2

• Feature Type
  protein coding gene
• IDs
  MGI:88574
  NCBI Gene: 13058
• Alliance
  gene page
• Transcription Start Sites
  95 TSS

Location &
Maps

• Sequence Map
  ChrX:9301493-9354005 bp, - strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome X, 4.30 cM
• Mapping Data
  22 experiments

Strain
Comparison

• SNPs within 2kb
  1386 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  3

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88574	protein coding gene	ChrX:9301491-9354010 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035556	protein coding gene	ChrX:4146699-4201883 (-)
A/J	MGP_AJ_G0035533	protein coding gene	ChrX:4263291-4316617 (-)
AKR/J	MGP_AKRJ_G0035465	protein coding gene	ChrX:4322992-4384770 (-)
BALB/cJ	MGP_BALBcJ_G0035526	protein coding gene	ChrX:4189693-4246630 (-)
C3H/HeJ	MGP_C3HHeJ_G0035243	protein coding gene	ChrX:4286458-4345934 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036056	protein coding gene	ChrX:4228779-4279479 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032925	protein coding gene	ChrX:3510805-3559616 (+)
CAST/EiJ	MGP_CASTEiJ_G0034535	protein coding gene	ChrX:4056000-4103435 (-)
CBA/J	MGP_CBAJ_G0035212	protein coding gene	ChrX:4612821-4666863 (-)
DBA/2J	MGP_DBA2J_G0035365	protein coding gene	ChrX:4194420-4248324 (-)
FVB/NJ	MGP_FVBNJ_G0035312	protein coding gene	ChrX:4009238-4059149 (-)
LP/J	MGP_LPJ_G0035447	protein coding gene	ChrX:4342992-4400853 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035355	protein coding gene	ChrX:4461077-4515978 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036068	protein coding gene	ChrX:4113609-4168649 (-)
PWK/PhJ	MGP_PWKPhJ_G0034235	protein coding gene	ChrX:3690094-3743410 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034076	protein coding gene	ChrX:4222674-4276227 (-)
WSB/EiJ	MGP_WSBEiJ_G0034671	protein coding gene	ChrX:4186528-4239771 (-)

Homology

• Human Ortholog
  CYBB, cytochrome b-245 beta chain

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  CYBB, cytochrome b-245 beta chain
  
• Synonyms
  AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
• Links
  HGNC:2578

  NCBI Gene ID: 1536

  neXtProt AC: NX_P04839

  UniProt: P04839

  
  
• Chr Location
  Xp21.1-p11.4; chrX:37780018-37813461 (+)  GRCh38

---

• MGI Vertebrate Homology
  Cybb stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: CYBB
• Gene Tree
  Cybb
  

Human Diseases

• Diseases
  2 with Cybb mouse models; 3 with human CYBB associations

Human Disease

Mouse Models

chronic granulomatous disease

IDs

chronic granulomatous disease      

DOID:3265
ICD10CM:D71
MESH:D006105
NCI:C26788
OMIM:PS306400
ORDO:379
UMLS_CUI:C0018203

View 2 models

Mouse Models

Human Disease Modeled: chronic granulomatous disease

Allelic Composition	Genetic Background	Reference	Phenotypes
Cybbtm1Din/Cybbtm1Din	B6.129S-Cybb^tm1Din	J:146231	View
Cybbtm1Din/Y	involves: 129S/SvEv * C57BL/6	J:22868	View

systemic lupus erythematosus

IDs

systemic lupus erythematosus      

DOID:9074
ICD10CM:M32.9
ICD9CM:710.0
KEGG:05322
MESH:D008180
NCI:C3201
OMIM:152700
OMIM:300809
OMIM:605480
OMIM:608437
OMIM:609903
OMIM:609939
OMIM:610065
OMIM:610066
OMIM:612254
OMIM:612378
OMIM:613145
OMIM:614420
ORDO:536
UMLS_CUI:C0024141

View 1 model

Mouse Models

Human Disease Modeled: systemic lupus erythematosus

Allelic Composition	Genetic Background	Reference	Phenotypes
Cybbtm1Din/Cybbtm1Din	B6.129S-Cybb^tm1Din/J	J:235399	View

immunodeficiency 34

IDs

immunodeficiency 34      

DOID:0112000
MESH:C567068
OMIM:300645
UMLS_CUI:C1970859

X-linked chronic granulomatous disease

IDs

X-linked chronic granulomatous disease      

DOID:0070195
OMIM:306400

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  4 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  97 phenotypes from 3 alleles in 5 genetic backgrounds
  8 phenotypes from multigenic genotypes
  521 phenotype references
  

• All Mutations and Alleles
  17
• Endonuclease-mediated
  8
• Targeted
  8
• Transgenic
  1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  42 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. Homozygotes for a null allele show postnatal lethality, decreased birth weight, cardiac septal and valve defects, and impaired atrioventricular cushion development.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  53
• GO References
  14

Expression

• Assay Results
  879
• Tissues
  77
• cDNA Data
  84
• Literature Summary
  13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase cybb
  ZFIN cybb

Sequences &
Gene Models

• All Sequences
  67
• RefSeq
  4
• UniProt
  8
• CCDS
  CCDS30010.1

• Ensembl
  ENSMUSG00000015340 (Evidence)
• NCBI Gene
  13058

Representative Sequences			Length	Strain/Species
genomic	13058	NCBI Gene Model | MGI Sequence Detail	52513	C57BL/6J
transcript	NM_007807	RefSeq | MGI Sequence Detail	4750	C57BL/6
polypeptide	Q61093	UniProt | EBI | MGI Sequence Detail	570	Not Applicable

Protein
Information

• UniProt
  8 Sequences
• Protein Ontology
  PR:000006087 cytochrome b-245 heavy chain
  (term hierarchy)
• EC
  1.-.-.-
• InterPro Domains
  IPR000778 Cytochrome b245, heavy chain
  IPR013112 FAD-binding 8
  IPR017927 FAD-binding domain, ferredoxin reductase-type
  IPR039261 Ferredoxin-NADP reductase (FNR), nucleotide-binding domain
  IPR013121 Ferric reductase, NAD binding domain
  IPR013130 Ferric reductase transmembrane component-like domain
  IPR050369 Respiratory burst oxidase/Ferric reductase
  IPR017938 Riboflavin synthase-like beta-barrel
• GlyGen
  Q61093 1 site

Molecular
Reagents

• All nucleic 93

  cDNA 87

  Primer pair 5

  Other 1

  
  

  Microarray probesets 7

Other
Accession IDs

MGD-MRK-1965, MGD-MRK-2263, MGI:2148082

References

• Summaries
  All 667

  Developmental Gene Expression 13

  Diseases 4

  Gene Ontology 14

  Phenotypes 521
• Earliest
  J:9438 Ryder-Cook AS, et al., Localization of the mdx mutation within the mouse dystrophin gene. EMBO J. 1988 Oct;7(10):3017-21
• Latest
  J:353920 Liu S, et al., NADPH oxidase exerts a B cell-intrinsic contribution to lupus risk by modulating endosomal TLR signals. J Exp Med. 2024 Apr 1;221(4)

TSS for Cybb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162967	ChrX:9337265-9337268 (-)	16,738 bp
Tssr162966	ChrX:9335719-9335743 (-)	18,274 bp
Tssr162965	ChrX:9335675-9335685 (-)	18,325 bp
Tssr162964	ChrX:9335527-9335570 (-)	18,456 bp
Tssr162963	ChrX:9335489-9335520 (-)	18,500 bp
Tssr162962	ChrX:9334229-9334235 (-)	19,773 bp
Tssr162961	ChrX:9334134-9334158 (-)	19,859 bp
Tssr162960	ChrX:9333470-9333479 (-)	20,530 bp
Tssr162959	ChrX:9333343-9333431 (-)	20,618 bp
Tssr162958	ChrX:9332966-9332970 (-)	21,037 bp
Tssr162957	ChrX:9331911-9332001 (-)	22,049 bp
Tssr162956	ChrX:9331871-9331887 (-)	22,126 bp
Tssr162955	ChrX:9331639-9331650 (-)	22,360 bp
Tssr162954	ChrX:9331535-9331558 (-)	22,458 bp
Tssr162953	ChrX:9330319-9330330 (-)	23,680 bp
Tssr162952	ChrX:9330078-9330088 (-)	23,922 bp
Tssr162951	ChrX:9330042-9330053 (-)	23,957 bp
Tssr162950	ChrX:9329737-9329749 (-)	24,262 bp
Tssr162949	ChrX:9329705-9329717 (-)	24,294 bp
Tssr162948	ChrX:9329662-9329679 (-)	24,334 bp
Tssr162947	ChrX:9329118-9329129 (-)	24,881 bp
Tssr162946	ChrX:9329001-9329034 (-)	24,987 bp
Tssr162945	ChrX:9328953-9328971 (-)	25,043 bp
Tssr162944	ChrX:9328292-9328304 (-)	25,707 bp
Tssr162943	ChrX:9328168-9328181 (-)	25,830 bp
Tssr162942	ChrX:9328102-9328113 (-)	25,897 bp
Tssr162941	ChrX:9328042-9328065 (-)	25,951 bp
Tssr162940	ChrX:9327666-9327670 (-)	26,337 bp
Tssr162939	ChrX:9327224-9327255 (-)	26,765 bp
Tssr162938	ChrX:9326941-9326957 (-)	27,056 bp
Tssr162937	ChrX:9326921-9326932 (-)	27,078 bp
Tssr162936	ChrX:9325703-9325733 (-)	28,287 bp
Tssr162935	ChrX:9325680-9325702 (-)	28,314 bp
Tssr162934	ChrX:9325631-9325645 (-)	28,367 bp
Tssr162933	ChrX:9325609-9325620 (-)	28,390 bp
Tssr162932	ChrX:9325560-9325571 (-)	28,439 bp
Tssr162931	ChrX:9325448-9325462 (-)	28,550 bp
Tssr162930	ChrX:9323228-9323293 (-)	30,744 bp
Tssr162929	ChrX:9321408-9321526 (-)	32,538 bp
Tssr162928	ChrX:9319912-9320008 (-)	34,045 bp
Tssr162927	ChrX:9319866-9319910 (-)	34,117 bp
Tssr162926	ChrX:9316997-9317055 (-)	36,979 bp
Tssr162925	ChrX:9315896-9315978 (-)	38,068 bp
Tssr162924	ChrX:9313162-9313171 (-)	40,838 bp
Tssr162923	ChrX:9313091-9313107 (-)	40,906 bp
Tssr162922	ChrX:9313047-9313089 (-)	40,937 bp
Tssr162921	ChrX:9313021-9313033 (-)	40,978 bp
Tssr162920	ChrX:9312966-9312998 (-)	41,023 bp
Tssr162919	ChrX:9312351-9312363 (-)	41,648 bp
Tssr162918	ChrX:9312311-9312322 (-)	41,688 bp
Tssr162917	ChrX:9312080-9312100 (-)	41,915 bp
Tssr162916	ChrX:9311926-9311961 (-)	42,061 bp
Tssr162915	ChrX:9310884-9310953 (-)	43,086 bp
Tssr162914	ChrX:9310821-9310883 (-)	43,153 bp
Tssr162913	ChrX:9310692-9310705 (-)	43,306 bp
Tssr162912	ChrX:9308846-9308920 (-)	45,122 bp
Tssr162911	ChrX:9306241-9306270 (-)	47,749 bp
Tssr162910	ChrX:9306187-9306232 (-)	47,795 bp
Tssr162909	ChrX:9306162-9306185 (-)	47,831 bp
Tssr162908	ChrX:9304557-9304575 (-)	49,439 bp
Tssr162907	ChrX:9304533-9304544 (-)	49,466 bp
Tssr162906	ChrX:9304460-9304472 (-)	49,539 bp
Tssr162905	ChrX:9304456-9304457 (-)	49,548 bp
Tssr162904	ChrX:9304372-9304383 (-)	49,627 bp
Tssr162903	ChrX:9304271-9304276 (-)	49,731 bp
Tssr162902	ChrX:9304210-9304222 (-)	49,789 bp
Tssr162901	ChrX:9304128-9304139 (-)	49,871 bp
Tssr162900	ChrX:9304097-9304110 (-)	49,901 bp
Tssr162899	ChrX:9304087-9304092 (-)	49,915 bp
Tssr162898	ChrX:9303941-9303952 (-)	50,058 bp
Tssr162897	ChrX:9303917-9303932 (-)	50,080 bp
Tssr162896	ChrX:9303890-9303901 (-)	50,109 bp
Tssr162895	ChrX:9303864-9303874 (-)	50,136 bp
Tssr162894	ChrX:9303804-9303818 (-)	50,194 bp
Tssr162893	ChrX:9303774-9303782 (-)	50,227 bp
Tssr162892	ChrX:9303670-9303677 (-)	50,331 bp
Tssr162891	ChrX:9303617-9303622 (-)	50,385 bp
Tssr162890	ChrX:9303583-9303594 (-)	50,416 bp
Tssr162889	ChrX:9303523-9303524 (-)	50,481 bp
Tssr162888	ChrX:9303493-9303506 (-)	50,505 bp
Tssr162887	ChrX:9303440-9303452 (-)	50,559 bp
Tssr162886	ChrX:9303413-9303414 (-)	50,591 bp
Tssr162885	ChrX:9303366-9303394 (-)	50,625 bp
Tssr162884	ChrX:9303322-9303358 (-)	50,665 bp
Tssr162883	ChrX:9303280-9303293 (-)	50,718 bp
Tssr162882	ChrX:9302900-9302903 (-)	51,103 bp
Tssr162881	ChrX:9302589-9302603 (-)	51,409 bp
Tssr162880	ChrX:9302553-9302585 (-)	51,436 bp
Tssr162879	ChrX:9302487-9302499 (-)	51,512 bp
Tssr162878	ChrX:9302378-9302393 (-)	51,619 bp
Tssr162877	ChrX:9302326-9302341 (-)	51,671 bp
Tssr162876	ChrX:9302305-9302322 (-)	51,691 bp
Tssr162875	ChrX:9302149-9302166 (-)	51,847 bp
Tssr162874	ChrX:9302123-9302143 (-)	51,872 bp
Tssr162873	ChrX:9301848-9301887 (-)	52,137 bp