LOCUS       NM_000397               4276 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens cytochrome b-245 beta chain (CYBB), mRNA.
ACCESSION   NM_000397
VERSION     NM_000397.4
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 4276)
  AUTHORS   Sridhar,A., DeSantiago,J., Chen,H., Pavel,M.A., Ly,O., Owais,A.,
            Barney,M., Jousma,J., Nukala,S.B., Abdelhady,K., Massad,M.,
            Rizkallah,L.E., Ong,S.G., Rehman,J. and Darbar,D.
  TITLE     Modulation of NOX2 causes obesity-mediated atrial fibrillation
  JOURNAL   J Clin Invest 134 (18), e175447 (2024)
   PUBMED   39146015
  REMARK    GeneRIF: Modulation of NOX2 causes obesity-mediated atrial
            fibrillation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4276)
  AUTHORS   Liang,S., Liu,A., Liu,Y., Wang,F., Zhou,Y., Long,Y., Wang,T.,
            Liu,Z., Ren,R. and Ye,R.D.
  TITLE     Structural basis for EROS binding to human phagocyte NADPH oxidase
            NOX2
  JOURNAL   Proc Natl Acad Sci U S A 121 (23), e2320388121 (2024)
   PUBMED   38805284
  REMARK    GeneRIF: Structural basis for EROS binding to human phagocyte NADPH
            oxidase NOX2.
REFERENCE   3  (bases 1 to 4276)
  AUTHORS   Xu,X., Zhu,M., Zu,Y., Wang,G., Li,X. and Yan,J.
  TITLE     Nox2 inhibition reduces trophoblast ferroptosis in preeclampsia via
            the STAT3/GPX4 pathway
  JOURNAL   Life Sci 343, 122555 (2024)
   PUBMED   38460811
  REMARK    GeneRIF: Nox2 inhibition reduces trophoblast ferroptosis in
            preeclampsia via the STAT3/GPX4 pathway.
REFERENCE   4  (bases 1 to 4276)
  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
  REMARK    GeneRIF: Structure of human phagocyte NADPH oxidase in the
            activated state.
REFERENCE   5  (bases 1 to 4276)
  AUTHORS   Dong,S., Chen,C., Di,C., Wang,S., Dong,Q., Lin,W. and Liu,D.
  TITLE     The Association between NADPH Oxidase 2 (NOX2) and Drug Resistance
            in Cancer
  JOURNAL   Curr Cancer Drug Targets 24 (12), 1195-1212 (2024)
   PUBMED   38362697
  REMARK    GeneRIF: The Association between NADPH Oxidase 2 (NOX2) and Drug
            Resistance in Cancer.
            Review article
REFERENCE   6  (bases 1 to 4276)
  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   7  (bases 1 to 4276)
  AUTHORS   Bolscher,B.G., de Boer,M., de Klein,A., Weening,R.S. and Roos,D.
  TITLE     Point mutations in the beta-subunit of cytochrome b558 leading to
            X-linked chronic granulomatous disease
  JOURNAL   Blood 77 (11), 2482-2487 (1991)
   PUBMED   1710153
REFERENCE   8  (bases 1 to 4276)
  AUTHORS   Nong,Y., Kandil,O., Tobin,E.H., Rose,R.M. and Remold,H.G.
  TITLE     The HIV core protein p24 inhibits interferon-gamma-induced increase
            of HLA-DR and cytochrome b heavy chain mRNA levels in the human
            monocyte-like cell line THP1
  JOURNAL   Cell Immunol 132 (1), 10-16 (1991)
   PUBMED   1905983
REFERENCE   9  (bases 1 to 4276)
  AUTHORS   Dinauer,M.C., Pierce,E.A., Bruns,G.A., Curnutte,J.T. and Orkin,S.H.
  TITLE     Human neutrophil cytochrome b light chain (p22-phox). Gene
            structure, chromosomal location, and mutations in
            cytochrome-negative autosomal recessive chronic granulomatous
            disease
  JOURNAL   J Clin Invest 86 (5), 1729-1737 (1990)
   PUBMED   2243141
REFERENCE   10 (bases 1 to 4276)
  AUTHORS   Royer-Pokora,B., Kunkel,L.M., Monaco,A.P., Goff,S.C.,
            Newburger,P.E., Baehner,R.L., Cole,F.S., Curnutte,J.T. and
            Orkin,S.H.
  TITLE     Cloning the gene for an inherited human disorder--chronic
            granulomatous disease--on the basis of its chromosomal location
  JOURNAL   Nature 322 (6074), 32-38 (1986)
   PUBMED   2425263
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032720.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000397.3.
            
            Summary: 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 chronic granulomatous disease (CGD). In this disorder, there
            is decreased activity of phagocyte NADPH oxidase; neutrophils are
            able to phagocytize bacteria but cannot kill them in the phagocytic
            vacuoles. The cause of the killing defect is an inability to
            increase the cell's respiration and consequent failure to deliver
            activated oxygen into the phagocytic vacuole. [provided by RefSeq,
            Jul 2008].
            
            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 :: BC032720.1, X04011.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378588.5/ ENSP00000367851.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4276              BC032720.1         29-4304
FEATURES             Location/Qualifiers
     source          1..4276
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1-p11.4"
     gene            1..4276
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="cytochrome b-245 beta chain"
                     /db_xref="GeneID:1536"
                     /db_xref="HGNC:HGNC:2578"
                     /db_xref="MIM:300481"
     exon            1..64
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1732
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="cytochrome b-245 heavy chain; CGD91-phox; p22
                     phagocyte B-cytochrome; cytochrome b558 subunit beta;
                     cytochrome b(558) subunit beta; neutrophil cytochrome b 91
                     kDa polypeptide; heme-binding membrane glycoprotein
                     gp91phox; cytochrome b-245 beta polypeptide;
                     superoxide-generating NADPH oxidase heavy chain subunit"
                     /codon_start=1
                     /product="NADPH oxidase 2"
                     /protein_id="NP_000388.2"
                     /db_xref="CCDS:CCDS14242.1"
                     /db_xref="GeneID:1536"
                     /db_xref="HGNC:HGNC:2578"
                     /db_xref="MIM:300481"
                     /translation="MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRK
                     LLGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHK
                     MVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRI
                     KNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIG
                     LAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGP
                     MFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSK
                     LEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFG
                     TASEDVFSYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHA
                     FEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQK
                     TLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFN
                     KENF"
     exon            65..160
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            161..271
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            272..356
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            357..502
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            503..693
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            694..823
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            824..916
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1170
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1333
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1480
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1605
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..4276
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1752..1757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: AATAAA"
     polyA_site      1776
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
     regulatory      2870..2875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: AATACA"
     polyA_site      2893
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
     regulatory      4257..4262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="hexamer: ATTAAA"
     polyA_site      4276
                     /gene="CYBB"
                     /gene_synonym="AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX;
                     GP91PHOX; IMD34; NOX2; p91-PHOX"
                     /note="major polyA site"
ORIGIN      
        1 acattcaacc tctgccacca tggggaactg ggctgtgaat gaggggctct ccatttttgt
       61 cattctggtt tggctggggt tgaacgtctt cctctttgtc tggtattacc gggtttatga
      121 tattccacct aagttctttt acacaagaaa acttcttggg tcagcactgg cactggccag
      181 ggcccctgca gcctgcctga atttcaactg catgctgatt ctcttgccag tctgtcgaaa
      241 tctgctgtcc ttcctcaggg gttccagtgc gtgctgctca acaagagttc gaagacaact
      301 ggacaggaat ctcacctttc ataaaatggt ggcatggatg attgcacttc actctgcgat
      361 tcacaccatt gcacatctat ttaatgtgga atggtgtgtg aatgcccgag tcaataattc
      421 tgatccttat tcagtagcac tctctgaact tggagacagg caaaatgaaa gttatctcaa
      481 ttttgctcga aagagaataa agaaccctga aggaggcctg tacctggctg tgaccctgtt
      541 ggcaggcatc actggagttg tcatcacgct gtgcctcata ttaattatca cttcctccac
      601 caaaaccatc cggaggtctt actttgaagt cttttggtac acacatcatc tctttgtgat
      661 cttcttcatt ggccttgcca tccatggagc tgaacgaatt gtacgtgggc agaccgcaga
      721 gagtttggct gtgcataata taacagtttg tgaacaaaaa atctcagaat ggggaaaaat
      781 aaaggaatgc ccaatccctc agtttgctgg aaaccctcct atgacttgga aatggatagt
      841 gggtcccatg tttctgtatc tctgtgagag gttggtgcgg ttttggcgat ctcaacagaa
      901 ggtggtcatc accaaggtgg tcactcaccc tttcaaaacc atcgagctac agatgaagaa
      961 gaaggggttc aaaatggaag tgggacaata catttttgtc aagtgcccaa aggtgtccaa
     1021 gctggagtgg caccctttta cactgacatc cgcccctgag gaagacttct ttagtatcca
     1081 tatccgcatc gttggggact ggacagaggg gctgttcaat gcttgtggct gtgataagca
     1141 ggagtttcaa gatgcgtgga aactacctaa gatagcggtt gatgggccct ttggcactgc
     1201 cagtgaagat gtgttcagct atgaggtggt gatgttagtg ggagcaggga ttggggtcac
     1261 acccttcgca tccattctca agtcagtctg gtacaaatat tgcaataacg ccaccaatct
     1321 gaagctcaaa aagatctact tctactggct gtgccgggac acacatgcct ttgagtggtt
     1381 tgcagatctg ctgcaactgc tggagagcca gatgcaggaa aggaacaatg ccggcttcct
     1441 cagctacaac atctacctca ctggctggga tgagtctcag gccaatcact ttgctgtgca
     1501 ccatgatgag gagaaagatg tgatcacagg cctgaaacaa aagactttgt atggacggcc
     1561 caactgggat aatgaattca agacaattgc aagtcaacac cctaatacca gaataggagt
     1621 tttcctctgt ggacctgaag ccttggctga aaccctgagt aaacaaagca tctccaactc
     1681 tgagtctggc cctcggggag tgcatttcat tttcaacaag gaaaacttct aacttgtctc
     1741 ttccatgagg aaataaatgt gggttgtgct gccaaatgct caaataatgc taattgataa
     1801 tataaatacc ccctgcttaa aaatggacaa aaagaaacta taatgtaatg gttttccctt
     1861 aaaggaatgt caaagattgt ttgatagtga taagttacat ttatgtggag ctctatggtt
     1921 ttgagagcac ttttacaaac attatttcat ttttttcctc tcagtaatgt cagtggaagt
     1981 tagggaaaag attcttggac tcaattttag aatcaaaagg gaaaggatca aaaggttcag
     2041 taacttccct aagattatga aactgtgacc agatctagcc catcttactc caggtttgat
     2101 actctttcca caatactgag ctgcctcaga atcctcaaaa tcagttttta tattccccaa
     2161 aagaagaagg aaaccaagga gtagctatat atttctactt tgtgtcattt ttgccatcat
     2221 tattatcata ctgaaggaaa ttttccagat cattaggaca taatacatgt tgagagtgtc
     2281 tcaacactta ttagtgacag tattgacatc tgagcatact ccagtttact aatacagcag
     2341 ggtaactggg ccagatgttc tttctacaga agaatattgg attgattgga gttaatgtaa
     2401 tactcatcat ttaccactgt gcttggcaga gagcggatac tcaagtaagt tttgttaaat
     2461 gaatgaatga atttagaacc acacaatgcc aagatagaat taatttaaag ccttaaacaa
     2521 aatttatcta aagaaataac ttctattact gtcatagacc aaaggaatct gattctccct
     2581 agggtcaaga acaggctaag gatactaacc aataggattg cctgaagggt tctgcacatt
     2641 cttatttgaa gcatgaaaaa agagggttgg aggtggagaa ttaacctcct gccatgactc
     2701 tggctcatct agtcctgctc cttgtgctat aaaataaatg cagactaatt tcctgcccaa
     2761 agtggtcttc tccagctagc ccttatgaat attgaactta ggaattgtga caaatatgta
     2821 tctgatatgg tcatttgttt taaataacac ccacccctta ttttccgtaa atacacacac
     2881 aaaatggatc gcatctgtgt gactaatggt ttatttgtat tatatcatca tcatcatcct
     2941 aaaattaaca acccagaaac aaaaatctct atacagagat caaattcaca ctcaatagta
     3001 tgttctgaat atatgttcaa gagagagtct ctaaatcact gttagtgtgg ccaagagcag
     3061 ggttttcttt ttgttcttag aactgctccc atttctggga actaaaacca gttttatttg
     3121 ccccacccct tggagccaca aatgtttaga actcttcaac ttcggtaatg aggaagaagg
     3181 agaaagagct gggggaaggg cagaagactg gtttaggagg aaaaggaaat aaggagaaaa
     3241 gagaatggga gagtgagaga aaataaaaaa ggcaaaaggg agagagaggg gaagggggtc
     3301 tcatattggt cattccctgc cccagatttc ttaaagtttg atatgtatag aatataattg
     3361 aaggaggtat acacatattg atgttgtttt gattatctat ggtattgaat cttttaaaat
     3421 ctggtcacaa attttgatgc tgagggggat tattcaaggg actaggatga actaaataag
     3481 aactcagttg ttctttgtca tactactatt cctttcgtct cccagaatcc tcagggcact
     3541 gagggtaggt ctgacaaata aggcctgctg tgcgaatata gcctttctga aatgtaccag
     3601 gatggtttct gcttagagac acttaggtcc agcctgttca cactgcacct caggtatcaa
     3661 ttcatctatt caacagatat ttattgtgtt attactatga gtcaggctct gtttattgtt
     3721 tcaattcttt acaccaaagt atgaactgga gagggtacct cagttataag gagtctgaga
     3781 atattggccc tttctaacct atgtgcataa ttaaaaccag cttcatttgt tgctccgaga
     3841 gtgtttctcc aaggttttct atcttcaaaa ccaactaagt tatgaaagta gagagatctg
     3901 ccctgtgtta tccagttatg agataaaaaa tgaatataag agtgcttgtc attataaaag
     3961 tttccttttt tattctctca agccaccagc tgccagccac cagcagccag ctgccagcct
     4021 agcttttttt tttttttttt ttttttagca cttagtattt agcatttatt aacaggtact
     4081 ctaagaatga tgaagcattg tttttaatct taagactatg aaggtttttc ttagttcttc
     4141 tgcttttgca attgtgtttg tgaaatttga atacttgcag gctttgtatg tgaataattc
     4201 tagcggggga cctgggagat aattcctacg gggaattctt aaaactgtgc tcaactatta
     4261 aaatgaatga gctttc
//
