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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000433 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_000433.3, 189083740
Length 2429 bp
Structure linear
Update Date 03-MAY-2014
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
12+dbSNP:
12+a, gdbSNP: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
264+c, tdbSNP:11540867
272+a, tdbSNP:35681596
complement(298)-c, adbSNP:368880633
complement(325)-g, adbSNP:201589700
complement(368)-g, adbSNP:143889676
complement(369)-t, cdbSNP:201869337
complement(378)-t, gdbSNP:368781381
complement(387)-g, adbSNP:200824291
complement(388)-t, cdbSNP:147415774
400+a, gdbSNP:137854514
405+c, g, tdbSNP:137854510
complement(468)-dbSNP:
complement(468)-t, cdbSNP:111532709
complement(472)-t, cdbSNP:142803799
505+a, gdbSNP:119103275
508+a, gdbSNP:137854519
510+a, gdbSNP:137854512
complement(518)-g, adbSNP:143178891
complement(519)-t, adbSNP:201003183
554+dbSNP:
554+c, gdbSNP:137854507
573+c, tdbSNP:119103276
complement(579)-g, adbSNP:374402066
580+c, gdbSNP:137854515
598+a, tdbSNP:137854509
complement(613)-t, cdbSNP:200286542
658+dbSNP:
658+c, tdbSNP:119103274
684+a, tdbSNP:137854516
694+a, cdbSNP:137854520
complement(752)-t, gdbSNP:369845453
754+a, tdbSNP:267606912
complement(756)-t, cdbSNP:137878529
complement(760)-g, adbSNP:376994104
complement(763)-g, adbSNP:372773130
780+dbSNP:
780+c, gdbSNP:137854517
complement(786)-g, adbSNP:145354685
complement(817)-t, cdbSNP:2274064
826+c, gdbSNP:137854518
complement(838)-t, cdbSNP:115365142
880+c, tdbSNP: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(1082)-g, adbSNP:371493437
1111+c, tdbSNP:13306581
complement(1165)-dbSNP:
complement(1165)-t, cdbSNP:35937854
1170+c, tdbSNP:1126596
complement(1202)-dbSNP:
complement(1202)-t, cdbSNP:112336681
complement(1213)-g, adbSNP:137937390
complement(1220)-g, adbSNP:200655126
complement(1252)-g, adbSNP:369515038
complement(1254)-t, cdbSNP:138860204
1258+a, gdbSNP:137854511
complement(1266)-g, adbSNP:199658789
complement(1356)-dbSNP:
complement(1356)-t, adbSNP:147744729
1380+a, gdbSNP:137854513
complement(1402)-t, cdbSNP:369205421
complement(1432)-t, cdbSNP:147908264
complement(1440)-t, gdbSNP:201325416
complement(1442)-t, gdbSNP:17849502
complement(1458)-dbSNP:
complement(1458)-t, cdbSNP:386528011
complement(1459)-t, cdbSNP:145229115
complement(1462)-t, gdbSNP:371503781
complement(1464)-g, adbSNP:145970396
complement(1465)-t, cdbSNP:370251291
complement(1475)-g, adbSNP:148005568
complement(1517)-c, adbSNP:377591562
complement(1531)-t, adbSNP:35012521
complement(1548)-g, adbSNP:373876135
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(1806)-dbSNP:
complement(1806)-t, cdbSNP:376920441
complement(1816)-t, cdbSNP:183100144
complement(1818)-t, cdbSNP:369006606
complement(1827)-g, cdbSNP:143901397
complement(1837)-t, cdbSNP:374667798
complement(1843)-t, cdbSNP:139108402
complement(1858)-t, adbSNP:200240164
complement(1863)-g, adbSNP:370795833
complement(1940)-t, cdbSNP:187489898
complement(1953)-t, gdbSNP:367946786
complement(2084)-g, cdbSNP:182819269
complement(2118)-g, adbSNP:201050705
complement(2130..2131)-, ttcdbSNP:34035622
complement(2146..2147)-, aacdbSNP:376644780
complement(2228..2229)-, acdbSNP:202202602
complement(2254..2255)-, atgdbSNP:397951870
complement(2254)-c, adbSNP:796860
complement(2254)-c, a, atgadbSNP:369000587
complement(2257..2258)-, gat, atgdbSNP:61684650
complement(2258..2259)-, atc, acdbSNP:13306577
complement(2323)-g, adbSNP:375774362
complement(2350)-t, gdbSNP:200423742
complement(2372..2373)-, adbSNP:369352446
complement(2399..2402)-, aaacdbSNP:376681445
Gene SymbolNCF2
Gene SynonymNCF-2; NOXA2; P67-PHOX; P67PHOX
Chromosome1
Locus Map1q25
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001190789 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 4, mRNA. On-demand $699.00 18
NM_000433 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. On-demand $699.00 18
NM_001127651 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 2, mRNA. On-demand $699.00 18
NM_001190794 Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 3, mRNA. On-demand $699.00 18
XM_005245207 PREDICTED: Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant X1, mRNA. On-demand $699.00 18
Title Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications .
Author Tarazona-Santos E, Machado M, Magalhaes WC, Chen R, Lyon F, Burdett L, Crenshaw A, Fabbri C, Pereira L, Pinto L, Redondo RA, Sestanovich B, Yeager M and Chanock SJ.
Journal Mol. Biol. Evol. 30 (9), 2157-2167 (2013)
Title Identification of NCF2/p67phox as a novel p53 target gene .
Author Italiano D, Lena AM, Melino G and Candi E.
Journal Cell Cycle 11 (24), 4589-4596 (2012)
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 MR, Tajik S, Bemanian MH, 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 JP, 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 JL, Hermine O, Blanche S, Blot N, Rubie H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P and Stasia MJ.
Journal J. Clin. Immunol. 32 (5), 942-958 (2012)
Title AP-1 is essential for p67(phox) promoter activity .
Author Gauss KA, Bunger PL and Quinn MT.
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 RT, Malech HL, Epstein ND, Roberts RL and Leto TL.
Journal Blood 82 (12), 3739-3744 (1993)
Title Chronic Granulomatous Disease .
Author Leiding,J.W. and Holland,S.M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A HindIII polymorphism in the human NCF2 gene .
Author Kenney RT and Leto TL.
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 CL, Foellmer BE, Lomax KJ, Malech HL and Leto TL.
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 TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark RA, Gallin JI and Malech HL.
Journal Science 248 (4956), 727-730 (1990)

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