LOCUS       NM_000433               2267 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript
            variant 1, mRNA.
ACCESSION   NM_000433
VERSION     NM_000433.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2267)
  AUTHORS   Miyazawa,H., Muraoka,M., Matsuda,Y., Toma,T., Morio,T.,
            Shigemura,T., Haraguchi,K., Matsubayashi,T., Kawai,T., Shirai,Y.
            and Wada,T.
  TITLE     Clinical and molecular significance of flow cytometric analysis for
            reactive oxygen species production and residual p67phox expression
            in p67phox-deficient chronic granulomatous disease
  JOURNAL   Scand J Immunol 100 (1), e13372 (2024)
   PUBMED   38654426
  REMARK    GeneRIF: Clinical and molecular significance of flow cytometric
            analysis for reactive oxygen species production and residual
            p67[phox] expression in p67[phox]-deficient chronic granulomatous
            disease.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Jia,Y., Nie,J., Wang,H., Han,Z., Zhang,Z. and Li,L.
  TITLE     [Correlation study of NCF2 in chronic rhinosinusitis with nasal
            polyps]
  JOURNAL   Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 38 (4), 303-309
            (2024)
   PUBMED   38563173
  REMARK    GeneRIF: [Correlation study of NCF2 in chronic rhinosinusitis with
            nasal polyps].
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Liu,X., Shi,Y., Liu,R., Song,K. and Chen,L.
  TITLE     Structure of human phagocyte NADPH oxidase in the activated state
  JOURNAL   Nature 627 (8002), 189-195 (2024)
   PUBMED   38355798
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Xie,J., Zhang,H., Wang,K., Ni,J., Ma,X., Khoury,C.J., Prifti,V.,
            Hoard,B., Cerenzia,E.G., Yin,L., Zhang,H., Wang,R., Zhuo,D., Mao,W.
            and Peng,B.
  TITLE     M6A-mediated-upregulation of lncRNA BLACAT3 promotes bladder cancer
            angiogenesis and hematogenous metastasis through YBX3 nuclear
            shuttling and enhancing NCF2 transcription
  JOURNAL   Oncogene 42 (40), 2956-2970 (2023)
   PUBMED   37612524
  REMARK    GeneRIF: M6A-mediated-upregulation of lncRNA BLACAT3 promotes
            bladder cancer angiogenesis and hematogenous metastasis through
            YBX3 nuclear shuttling and enhancing NCF2 transcription.
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Gauss,K.A., Bunger,P.L. and Quinn,M.T.
  TITLE     AP-1 is essential for p67(phox) promoter activity
  JOURNAL   J Leukoc Biol 71 (1), 163-172 (2002)
   PUBMED   11781392
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Prigmore,E., Ahmed,S., Best,A., Kozma,R., Manser,E., Segal,A.W. and
            Lim,L.
  TITLE     A 68-kDa kinase and NADPH oxidase component p67phox are targets for
            Cdc42Hs and Rac1 in neutrophils
  JOURNAL   J Biol Chem 270 (18), 10717-10722 (1995)
   PUBMED   7738010
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Leiding,J.W. and Holland,S.M.
  TITLE     Chronic Granulomatous Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22876374
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Kenney,R.T. and Leto,T.L.
  TITLE     A HindIII polymorphism in the human NCF2 gene
  JOURNAL   Nucleic Acids Res 18 (23), 7193 (1990)
   PUBMED   1979859
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Francke,U., Hsieh,C.L., Foellmer,B.E., Lomax,K.J., Malech,H.L. and
            Leto,T.L.
  TITLE     Genes for two autosomal recessive forms of chronic granulomatous
            disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1)
  JOURNAL   Am J Hum Genet 47 (3), 483-492 (1990)
   PUBMED   2393022
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   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.
  TITLE     Cloning of a 67-kD neutrophil oxidase factor with similarity to a
            noncatalytic region of p60c-src
  JOURNAL   Science 248 (4956), 727-730 (1990)
   PUBMED   1692159
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001606.1, BP193903.1,
            AK312666.1 and BU617086.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000433.3.
            
            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).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001606.1, AF527950.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367535.8/ ENSP00000356505.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-671               BC001606.1         123-793
            672-753             BP193903.1         501-582
            754-1711            AK312666.1         809-1766
            1712-2267           BU617086.1         18-573              c
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.3"
     gene            1..2267
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="neutrophil cytosolic factor 2"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
     exon            1..304
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..1711
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neutrophil cytosolic factor 2 (65kD, chronic granulomatous
                     disease, autosomal 2); NADPH oxidase activator 2;
                     neutrophil cytosol factor 2; 67 kDa neutrophil oxidase
                     factor; neutrophil NADPH oxidase factor 2"
                     /codon_start=1
                     /product="neutrophil cytosol factor 2 isoform 1"
                     /protein_id="NP_000424.2"
                     /db_xref="CCDS:CCDS1356.1"
                     /db_xref="GeneID:4688"
                     /db_xref="HGNC:HGNC:7661"
                     /db_xref="MIM:608515"
                     /translation="MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIG
                     CMYTILKNMTEAEKAFTRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLR
                     GNQLIDYKILGLQFKLFACEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKID
                     KAMECVWKQKLYEPVVIPVGKLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFA
                     PLQPQAAEPPPRPKTPEIFRALEGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDN
                     WATVMFNGQKGLVPCNYLEPVELRIHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPG
                     QKQKEEPKEVKLSVPMPYTLKVHYKYTVVMKTQPGLPYSQVRDMVSKKLELRLEHTKL
                     SYRPRDSNELVPLSEDSMKDAWGQVKNYCLTLWCENTVGDQGFPDEPKESEKADANNQ
                     TTEPQLKKGSQVEALFSYEATQPEDLEFQEGDIILVLSKVNEEWLEGECKGKVGIFPK
                     VFVEDCATTDLESTRREV"
     exon            305..387
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            388..496
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            497..631
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            632..739
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            740..799
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            800..843
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            844..985
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1054
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1130
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1156
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1308
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1420
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1598
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..2267
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2241..2246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      2267
                     /gene="NCF2"
                     /gene_synonym="NCF-2; NOXA2; P67-PHOX; P67PHOX"
                     /note="major polyA site"
ORIGIN      
        1 attctactca tctggcccag aaagtgaaca ccttgggggc cactaaggca gccctgctag
       61 gggagacgct ccaacctgtc ttctctctgt ctcctggcag ctctcttggc ctcctagttt
      121 ctacctaatc atgtccctgg tggaggccat cagcctctgg aatgaagggg tgctggcagc
      181 ggacaagaag gactggaagg gagccctgga tgccttcagt gccgtccagg acccccactc
      241 ccggatttgc ttcaacattg gctgcatgta cactatcctg aagaacatga ctgaagcaga
      301 gaaggccttt accagaagca ttaaccgaga caagcacttg gcagtggctt acttccaacg
      361 agggatgctc tactaccaga cagagaaata tgatttggct atcaaagacc ttaaagaagc
      421 cttgattcag cttcgaggga accagctgat agactataag atcctggggc tccagttcaa
      481 gctgtttgcc tgtgaggtgt tatataacat tgctttcatg tatgccaaga aggaggaatg
      541 gaaaaaagct gaagaacagt tagcattggc cacgagcatg aagtctgagc ccagacattc
      601 caaaatcgac aaggcgatgg agtgtgtctg gaagcagaag ctatatgagc cagtggtgat
      661 ccctgtgggc aagctgtttc gaccaaatga gagacaagtg gctcagctgg ccaagaagga
      721 ttacctaggc aaggcgacgg tcgtggcatc tgtggtggat caagacagtt tctctgggtt
      781 tgcccctctg caaccacagg cagctgagcc tccacccaga ccgaaaaccc cagagatctt
      841 cagggctctg gaaggggagg ctcaccgtgt gctatttggg tttgtgcctg agacaaaaga
      901 agagctccag gtcatgccag ggaacattgt ctttgtcttg aagaagggca atgataactg
      961 ggccacggtc atgttcaacg ggcagaaggg gcttgttccc tgcaactacc ttgaaccagt
     1021 tgagctgcgg atccaccctc agcagcagcc ccaggaggaa agctctccgc agtccgacat
     1081 cccagctcct cctagttcca aagcccctgg aagaccccag ctgtcaccag gccagaaaca
     1141 aaaagaagag cctaaggaag tgaagctcag tgttcccatg ccctacacac tcaaggtgca
     1201 ctacaagtac acggtagtca tgaagactca gcccgggctc ccctacagcc aggtccggga
     1261 catggtgtct aagaaactgg agctccggct ggaacacact aagctgagct atcggcctcg
     1321 ggacagcaat gagctggtgc ccctttcaga agacagcatg aaggatgcct ggggccaggt
     1381 gaaaaactac tgcctgactc tgtggtgtga gaacacagtg ggtgaccaag gctttccaga
     1441 tgaacccaag gaaagtgaaa aagctgatgc taataaccag acaacagaac ctcagcttaa
     1501 gaaaggcagc caagtggagg cactcttcag ttatgaggct acccaaccag aggacctgga
     1561 gtttcaggaa ggggatataa tcctggtgtt atcaaaggtg aatgaagaat ggctggaagg
     1621 ggagtgcaaa gggaaggtgg gcattttccc caaagttttt gttgaagact gcgcaactac
     1681 agatttggaa agcactcgga gagaagtcta ggatgtttca caaactacaa agctgaagaa
     1741 aatgaagccc tattacttgt ttgtaagatt tagcaccctt ctgctgtata ctgtactgag
     1801 acattacagt ttggaagtgt taactattta ttccctgtta aaatttaacc tactagacaa
     1861 tgatgtgagt acccaggatg atttcctggg gcacagtggg tgaggagatg gggacaggtg
     1921 aatggaggag ttaggggaga ggaaaagtgg atggaagtgt ctggaaaggg cacgagagag
     1981 tcttccaggt actgatcctg tttcttgctc tgagtgctag ctagccagct gtgttcacac
     2041 tgtaaacatt catcaagctg tacatttggt gcacttttct gtgtcatacc acaataaaaa
     2101 aaaacctagc atcttacaaa aacaagacac ccaagtccag gcccaaggag taagtacaaa
     2161 tattcctgtt tctgaaccat tactgtaatt ggctcttaag gcttgaagta accttatagg
     2221 ttactcataa ggcatataca aataaacttg tttgttttct tttttca
//
