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Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_000433 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. ORF Sequence $458.49
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RefSeq Version NM_000433.3, 189083740
Length 2429 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.
Product neutrophil cytosol factor 2 isoform 1
Comment

Summary: This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010].


Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).

RefSeq NP_000424.2
CDS 276..1856
Misc Feature(1)189..191
Misc Feature(2)306..569
Misc Feature(3)306..569
Misc Feature(4)order(306..308,315..320,396..401,405..410,417..422,
Misc Feature(5)order(312..314,348..350,360..362,369..371,405..407,
Misc Feature(6)384..485
Misc Feature(7)396..569
Misc Feature(8)486..587
Misc Feature(9)636..737
Misc Feature(10)1005..1166
Misc Feature(11)order(1020..1022,1026..1028,1035..1037,1047..1049,
Misc Feature(12)1326..1562
Misc Feature(13)order(1338..1340,1368..1370,1419..1421,1527..1529)
Misc Feature(14)1656..1814
Misc Feature(15)order(1671..1679,1689..1700,1734..1748,1752..1757,
Exon (1)1..449
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (2)450..532
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (3)533..641
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (4)642..776
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (5)777..884
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (6)885..944
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (7)945..988
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (8)989..1130
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (9)1131..1199
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (10)1200..1275
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (11)1276..1301
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (12)1302..1453
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (13)1454..1565
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (14)1566..1743
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Exon (15)1744..2412
Gene:NCF2
Gene Synonym:NCF-2; NOXA2; P67-PHOX; P67PHOX
Translation MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAF TRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFA CEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAMECVWKQKLYEPVVIPVG KLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELR IHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKY TVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNY CLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV
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Position Chain Variation Link
complement(12)-dbSNP:
complement(12)-g, adbSNP:150182900
complement(27..28)-, adbSNP:35066000
complement(36)-c, adbSNP:2274065
complement(37..39)-, aagdbSNP:199728796
complement(147)-t, cdbSNP:34501573
complement(181)-t, cdbSNP:184020650
complement(187)-, tdbSNP:35116326
complement(264)-t, cdbSNP:11540867
complement(272)-t, adbSNP:35681596
complement(325)-g, adbSNP:201589700
complement(368)-g, adbSNP:143889676
complement(369)-t, cdbSNP:201869337
complement(387)-g, adbSNP:200824291
complement(388)-t, cdbSNP:147415774
complement(400)-g, adbSNP:137854514
complement(405)-t, g, cdbSNP:137854510
complement(468)-dbSNP:
complement(468)-t, cdbSNP:111532709
complement(472)-t, cdbSNP:142803799
complement(505)-g, adbSNP:119103275
complement(508)-g, adbSNP:137854519
complement(510)-g, adbSNP:137854512
complement(518)-g, adbSNP:143178891
complement(519)-t, adbSNP:201003183
complement(554)-dbSNP:
complement(554)-g, cdbSNP:137854507
complement(573)-t, cdbSNP:119103276
complement(580)-g, cdbSNP:137854515
complement(598)-t, adbSNP:137854509
complement(613)-t, cdbSNP:200286542
complement(658)-dbSNP:
complement(658)-t, cdbSNP:119103274
complement(684)-t, adbSNP:137854516
complement(694)-c, adbSNP:137854520
754+a, tdbSNP:267606912
complement(756)-t, g, cdbSNP:137878529
complement(780)-dbSNP:
complement(780)-g, cdbSNP:137854517
complement(786)-g, adbSNP:145354685
complement(817)-t, cdbSNP:2274064
complement(826)-g, cdbSNP:137854518
complement(838)-t, cdbSNP:115365142
complement(880)-t, cdbSNP:137854508
complement(881)-t, cdbSNP:17849501
complement(884)-t, cdbSNP:147657171
complement(936)-dbSNP:
complement(936)-g, adbSNP:140028944
complement(967)-dbSNP:
complement(967)-g, adbSNP:144451516
complement(978)-t, cdbSNP:150595188
complement(1111)-t, cdbSNP:13306581
complement(1165)-dbSNP:
complement(1165)-t, cdbSNP:35937854
complement(1170)-t, cdbSNP:1126596
complement(1202)-dbSNP:
complement(1202)-t, cdbSNP:112336681
complement(1213)-g, adbSNP:137937390
complement(1220)-g, adbSNP:200655126
complement(1254)-t, cdbSNP:138860204
complement(1258)-g, adbSNP:137854511
complement(1266)-g, adbSNP:199658789
complement(1356)-dbSNP:
complement(1356)-t, adbSNP:147744729
complement(1380)-g, adbSNP:137854513
complement(1432)-t, cdbSNP:147908264
complement(1440)-t, gdbSNP:201325416
complement(1442)-t, gdbSNP:17849502
complement(1458)-dbSNP:
complement(1458)-t, cdbSNP:13306575
complement(1459)-t, cdbSNP:145229115
complement(1464)-g, adbSNP:145970396
complement(1475)-g, adbSNP:148005568
complement(1531)-t, adbSNP:35012521
complement(1617)-dbSNP:
complement(1617)-t, cdbSNP:141569987
complement(1635)-g, adbSNP:55761650
complement(1639)-t, cdbSNP:142633260
complement(1721)-g, adbSNP:146762552
complement(1727)-g, adbSNP:139817332
complement(1816)-dbSNP:
complement(1816)-t, cdbSNP:183100144
complement(1827)-g, cdbSNP:143901397
complement(1843)-t, cdbSNP:139108402
complement(1858)-t, adbSNP:200240164
complement(1940)-t, cdbSNP:187489898
complement(2084)-g, cdbSNP:182819269
complement(2118)-g, adbSNP:201050705
complement(2127..2128)-, agadbSNP:71790724
complement(2129..2130)-, gaadbSNP:71718514
complement(2130..2131)-, ttcdbSNP:34035622
complement(2228..2229)-, acdbSNP:202202602
complement(2251..2252)-, gatdbSNP:71699593
complement(2254..2255)-, atgdbSNP:61684650
complement(2254)-c, adbSNP:796860
complement(2257..2258)-, gatdbSNP:71725366
complement(2258..2259)-, gatdbSNP:140957014
complement(2258..2259)-, atc, acdbSNP:13306577
complement(2350)-t, gdbSNP:200423742
Gene SymbolNCF2
Gene SynonymNCF-2; NOXA2; P67-PHOX; P67PHOX
Chromosome1
Locus Map1q25
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000433 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. Full Length $704.41
ORF Sequence $458.49
NM_001127651 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 2, mRNA. Full Length $654.53
ORF Sequence $458.49
NM_001190789 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 4, mRNA. Full Length $633.94
ORF Sequence $388.02
NM_001190794 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 3, mRNA. Full Length $662.65
ORF Sequence $419.34
Title Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox .
Author Badalzadeh,M., Fattahi,F., Fazlollahi,M.R., Tajik,S., Bemanian,M.H., Behmanesh,F., Movahedi,M., Houshmand,M. and Pourpak,Z.
Journal Iran J Allergy Asthma Immunol 11 (4), 340-344 (2012)
Title Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes .
Author Martel,C., Mollin,M., Beaumel,S., Brion,J.P., Coutton,C., Satre,V., Vieville,G., Callanan,M., Lefebvre,C., Salmon,A., Pagnier,A., Plantaz,D., Bost-Bru,C., Eitenschenck,L., Durieu,I., Floret,D., Galambrun,C., Chambost,H., Michel,G., Stephan,J.L., Hermine,O., Blanche,S., Blot,N., Rubie,H., Pouessel,G., Drillon-Haus,S., Conrad,B., Posfay-Barbe,K.M., Havlicekova,Z., Voskresenky-Baricic,T., Jadranka,K., Arriazu,M.C., Garcia,L.A., Sfaihi,L., Bordigoni,P. and Stasia,M.J.
Journal J. Clin. Immunol. 32 (5), 942-958 (2012)
Title Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of .
Author Jacob,C.O., Eisenstein,M., Dinauer,M.C., Ming,W., Liu,Q., John,S., Quismorio,F.P. Jr., Reiff,A., Myones,B.L., Kaufman,K.M., McCurdy,D., Harley,J.B., Silverman,E., Kimberly,R.P., Vyse,T.J., Gaffney,P.M., Moser,K.L., Klein-Gitelman,M., Wagner-Weiner,L., Langefeld,C.D., Armstrong,D.L. and Zidovetzki,R.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (2), E59-E67 (2012)
Title Stable accumulation of p67phox at the phagosomal membrane and ROS production within the phagosome .
Author Tlili,A., Erard,M., Faure,M.C., Baudin,X., Piolot,T., Dupre-Crochet,S. and Nusse,O.
Journal J. Leukoc. Biol. 91 (1), 83-95 (2012)
Title Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus .
Author Cunninghame Graham,D.S., Morris,D.L., Bhangale,T.R., Criswell,L.A., Syvanen,A.C., Ronnblom,L., Behrens,T.W., Graham,R.R. and Vyse,T.J.
Journal PLoS Genet. 7 (10), E1002341 (2011)
Title AP-1 is essential for p67(phox) promoter activity .
Author Gauss,K.A., Bunger,P.L. and Quinn,M.T.
Journal J. Leukoc. Biol. 71 (1), 163-172 (2002)
Title Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease .
Author Kenney,R.T., Malech,H.L., Epstein,N.D., Roberts,R.L. and Leto,T.L.
Journal Blood 82 (12), 3739-3744 (1993)
Title A HindIII polymorphism in the human NCF2 gene .
Author Kenney,R.T. and Leto,T.L.
Journal Nucleic Acids Res. 18 (23), 7193 (1990)
Title Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1) .
Author Francke,U., Hsieh,C.L., Foellmer,B.E., Lomax,K.J., Malech,H.L. and Leto,T.L.
Journal Am. J. Hum. Genet. 47 (3), 483-492 (1990)
Title Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src .
Author Leto,T.L., Lomax,K.J., Volpp,B.D., Nunoi,H., Sechler,J.M., Nauseef,W.M., Clark,R.A., Gallin,J.I. and Malech,H.L.
Journal Science 248 (4956), 727-730 (1990)

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