LOCUS       NM_000633               6881 bp    mRNA    linear   PRI 13-NOV-2024
DEFINITION  Homo sapiens BCL2 apoptosis regulator (BCL2), transcript variant
            alpha, mRNA.
ACCESSION   NM_000633
VERSION     NM_000633.3
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 6881)
  AUTHORS   Lin,C.Y., Liang,W.C., Yu,Y.C., Chang,S.C., Lai,M.C. and Jong,Y.J.
  TITLE     ETFDH mutation involves excessive apoptosis and neurite outgrowth
            defect via Bcl2 pathway
  JOURNAL   Sci Rep 14 (1), 25374 (2024)
   PUBMED   39455656
  REMARK    GeneRIF: ETFDH mutation involves excessive apoptosis and neurite
            outgrowth defect via Bcl2 pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6881)
  AUTHORS   Westaby,D., Jimenez-Vacas,J.M., Figueiredo,I., Rekowski,J.,
            Pettinger,C., Gurel,B., Lundberg,A., Bogdan,D., Buroni,L., Neeb,A.,
            Padilha,A., Taylor,J., Zeng,W., Das,S., Hobern,E., Riisnaes,R.,
            Crespo,M., Miranda,S., Ferreira,A., Hanratty,B.P., Nava
            Rodrigues,D., Bertan,C., Seed,G., Fenor de La Maza,M.L.D., Guo,C.,
            Carmichael,J., Grochot,R., Chandran,K., Stavridi,A., Varkaris,A.,
            Stylianou,N., Hollier,B.G., Tunariu,N., Balk,S.P., Carreira,S.,
            Yuan,W., Nelson,P.S., Corey,E., Haffner,M., de Bono,J. and Sharp,A.
  TITLE     BCL2 expression is enriched in advanced prostate cancer with
            features of lineage plasticity
  JOURNAL   J Clin Invest 134 (18), e179998 (2024)
   PUBMED   39286979
  REMARK    GeneRIF: BCL2 expression is enriched in advanced prostate cancer
            with features of lineage plasticity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6881)
  AUTHORS   Beigl,T.B., Paul,A., Fellmeth,T.P., Nguyen,D., Barber,L.,
            Weller,S., Schafer,B., Gillissen,B.F., Aulitzky,W.E., Kopp,H.G.,
            Rehm,M., Andrews,D.W., Pluhackova,K. and Essmann,F.
  TITLE     BCL-2 and BOK regulate apoptosis by interaction of their C-terminal
            transmembrane domains
  JOURNAL   EMBO Rep 25 (9), 3896-3924 (2024)
   PUBMED   39048751
  REMARK    GeneRIF: BCL-2 and BOK regulate apoptosis by interaction of their
            C-terminal transmembrane domains.
REFERENCE   4  (bases 1 to 6881)
  AUTHORS   Wise,A.R., Maloney,S., Hering,A., Zabala,S., Richmond,G.E.,
            VanKlompenberg,M.K., Nair,M.T. and Prosperi,J.R.
  TITLE     Bcl-2 Up-Regulation Mediates Taxane Resistance Downstream of APC
            Loss
  JOURNAL   Int J Mol Sci 25 (12), 6745 (2024)
   PUBMED   38928449
  REMARK    GeneRIF: Bcl-2 Up-Regulation Mediates Taxane Resistance Downstream
            of APC Loss.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6881)
  AUTHORS   Salomons,G.S., Buitenhuis,C.K., Martinez Munoz,C.,
            Verwijs-Jassen,M., Behrendt,H., Zsiros,J. and Smets,L.A.
  TITLE     Mutational analysis of Bax and Bcl-2 in childhood acute
            lymphoblastic leukaemia
  JOURNAL   Int J Cancer 79 (3), 273-277 (1998)
   PUBMED   9645350
REFERENCE   6  (bases 1 to 6881)
  AUTHORS   Harigai,M., Miyashita,T., Hanada,M. and Reed,J.C.
  TITLE     A cis-acting element in the BCL-2 gene controls expression through
            translational mechanisms
  JOURNAL   Oncogene 12 (6), 1369-1374 (1996)
   PUBMED   8649841
REFERENCE   7  (bases 1 to 6881)
  AUTHORS   Hockenbery,D.M.
  TITLE     The bcl-2 oncogene and apoptosis
  JOURNAL   Semin Immunol 4 (6), 413-420 (1992)
   PUBMED   1286168
  REMARK    Review article
REFERENCE   8  (bases 1 to 6881)
  AUTHORS   Borzillo,G.V., Endo,K. and Tsujimoto,Y.
  TITLE     Bcl-2 confers growth and survival advantage to interleukin
            7-dependent early pre-B cells which become factor independent by a
            multistep process in culture
  JOURNAL   Oncogene 7 (5), 869-876 (1992)
   PUBMED   1373874
REFERENCE   9  (bases 1 to 6881)
  AUTHORS   Tanaka,S., Louie,D.C., Kant,J.A. and Reed,J.C.
  TITLE     Frequent incidence of somatic mutations in translocated BCL2
            oncogenes of non-Hodgkin's lymphomas
  JOURNAL   Blood 79 (1), 229-237 (1992)
   PUBMED   1339299
REFERENCE   10 (bases 1 to 6881)
  AUTHORS   Dublanchet,A. and Durieux,R.
  TITLE     [Isolation of a strain of Streptococcus pneumoniae multiresistant
            to antibiotics]
  JOURNAL   Nouv Presse Med 8 (11), 872 (1979)
   PUBMED   36599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021803.8 and AC022726.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 14, 2020 this sequence version replaced NM_000633.2.
            
            Summary: This gene encodes an integral outer mitochondrial membrane
            protein that blocks the apoptotic death of some cells such as
            lymphocytes. Constitutive expression of BCL2, such as in the case
            of translocation of BCL2 to Ig heavy chain locus, is thought to be
            the cause of follicular lymphoma. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2016].
            
            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 :: BC027258.1, SRR14038191.1064725.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000333681.5/
                                                  ENSP00000329623.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            regulatory uORF                    :: PMID: 9645350
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-596               AC021803.8         37756-38351
            597-1467            AC021803.8         38573-39443
            1468-6881           AC022726.13        127195-132608
FEATURES             Location/Qualifiers
     source          1..6881
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     gene            1..6881
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="BCL2 apoptosis regulator"
                     /db_xref="GeneID:596"
                     /db_xref="HGNC:HGNC:990"
                     /db_xref="MIM:151430"
     exon            1..596
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /inference="alignment:Splign:2.1.0"
     exon            597..1467
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      764..799
                     /regulatory_class="uORF"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:9645350]"
                     /note="this uORF is predicted to encode a 11 aa peptide
                     (PMID:9645350)"
     CDS             883..1602
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; protein phosphatase 1, regulatory subunit 50;
                     B-cell CLL/lymphoma 2"
                     /codon_start=1
                     /product="apoptosis regulator Bcl-2 isoform alpha"
                     /protein_id="NP_000624.2"
                     /db_xref="CCDS:CCDS11981.1"
                     /db_xref="GeneID:596"
                     /db_xref="HGNC:HGNC:990"
                     /db_xref="MIM:151430"
                     /translation="MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAP
                     APGIFSSQPGHTPHPAASRDPVARTSPLQTPAAPGAAAGPALSPVPPVVHLTLRQAGD
                     DFSRRYRRDFAEMSSQLHLTPFTARGRFATVVEELFRDGVNWGRIVAFFEFGGVMCVE
                     SVNREMSPLVDNIALWMTEYLNRHLHTWIQDNGGWDAFVELYGPSMRPLFDFSWLSLK
                     TLLSLALVGACITLGAYLGHK"
     exon            1468..6881
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6570..6575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="hexamer: AATAAA"
     polyA_site      6591
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="major polyA site"
     regulatory      6858..6863
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="hexamer: AATAAA"
     polyA_site      6881
                     /gene="BCL2"
                     /gene_synonym="Bcl-2; PPP1R50"
                     /note="major polyA site"
ORIGIN      
        1 acccctcgcc gcaccacaca cagcgcgggc ttctagcgct cggcaccggc gggccaggcg
       61 cgtcctgcct tcatttatcc agcagctttt cggaaaatgc atttgctgtt cggagtttaa
      121 tcagaagagg attcctgcct ccgtccccgg ctccttcatc gtcccctctc ccctgtctct
      181 ctcctgggga ggcgtgaagc ggtcccgtgg atagagattc atgcctgtgc ccgcgcgtgt
      241 gtgcgcgcgt gtaaattgcc gagaagggga aaacatcaca ggacttctgc gaataccgga
      301 ctgaaaattg taattcatct gccgccgccg ctgccttttt tttttctcga gctcttgaga
      361 tctccggttg ggattcctgc ggattgacat ttctgtgaag cagaagtctg ggaatcgatc
      421 tggaaatcct cctaattttt actccctctc cccgcgactc ctgattcatt gggaagtttc
      481 aaatcagcta taactggaga gtgctgaaga ttgatgggat cgttgcctta tgcatttgtt
      541 ttggttttac aaaaaggaaa cttgacagag gatcatgctg tacttaaaaa atacaacatc
      601 acagaggaag tagactgata ttaacaatac ttactaataa taacgtgcct catgaaataa
      661 agatccgaaa ggaattggaa taaaaatttc ctgcatctca tgccaagggg gaaacaccag
      721 aatcaagtgt tccgcgtgat tgaagacacc ccctcgtcca agaatgcaaa gcacatccaa
      781 taaaatagct ggattataac tcctcttctt tctctggggg ccgtggggtg ggagctgggg
      841 cgagaggtgc cgttggcccc cgttgctttt cctctgggaa ggatggcgca cgctgggaga
      901 acagggtacg ataaccggga gatagtgatg aagtacatcc attataagct gtcgcagagg
      961 ggctacgagt gggatgcggg agatgtgggc gccgcgcccc cgggggccgc ccccgcaccg
     1021 ggcatcttct cctcccagcc cgggcacacg ccccatccag ccgcatcccg ggacccggtc
     1081 gccaggacct cgccgctgca gaccccggct gcccccggcg ccgccgcggg gcctgcgctc
     1141 agcccggtgc cacctgtggt ccacctgacc ctccgccagg ccggcgacga cttctcccgc
     1201 cgctaccgcc gcgacttcgc cgagatgtcc agccagctgc acctgacgcc cttcaccgcg
     1261 cggggacgct ttgccacggt ggtggaggag ctcttcaggg acggggtgaa ctgggggagg
     1321 attgtggcct tctttgagtt cggtggggtc atgtgtgtgg agagcgtcaa ccgggagatg
     1381 tcgcccctgg tggacaacat cgccctgtgg atgactgagt acctgaaccg gcacctgcac
     1441 acctggatcc aggataacgg aggctgggat gcctttgtgg aactgtacgg ccccagcatg
     1501 cggcctctgt ttgatttctc ctggctgtct ctgaagactc tgctcagttt ggccctggtg
     1561 ggagcttgca tcaccctggg tgcctatctg ggccacaagt gaagtcaaca tgcctgcccc
     1621 aaacaaatat gcaaaaggtt cactaaagca gtagaaataa tatgcattgt cagtgatgta
     1681 ccatgaaaca aagctgcagg ctgtttaaga aaaaataaca cacatataaa catcacacac
     1741 acagacagac acacacacac acaacaatta acagtcttca ggcaaaacgt cgaatcagct
     1801 atttactgcc aaagggaaat atcatttatt ttttacatta ttaagaaaaa aagatttatt
     1861 tatttaagac agtcccatca aaactcctgt ctttggaaat ccgaccacta attgccaagc
     1921 accgcttcgt gtggctccac ctggatgttc tgtgcctgta aacatagatt cgctttccat
     1981 gttgttggcc ggatcaccat ctgaagagca gacggatgga aaaaggacct gatcattggg
     2041 gaagctggct ttctggctgc tggaggctgg ggagaaggtg ttcattcact tgcatttctt
     2101 tgccctgggg gctgtgatat taacagaggg agggttcctg tggggggaag tccatgcctc
     2161 cctggcctga agaagagact ctttgcatat gactcacatg atgcatacct ggtgggagga
     2221 aaagagttgg gaacttcaga tggacctagt acccactgag atttccacgc cgaaggacag
     2281 cgatgggaaa aatgccctta aatcatagga aagtattttt ttaagctacc aattgtgccg
     2341 agaaaagcat tttagcaatt tatacaatat catccagtac cttaagccct gattgtgtat
     2401 attcatatat tttggatacg caccccccaa ctcccaatac tggctctgtc tgagtaagaa
     2461 acagaatcct ctggaacttg aggaagtgaa catttcggtg acttccgcat caggaaggct
     2521 agagttaccc agagcatcag gccgccacaa gtgcctgctt ttaggagacc gaagtccgca
     2581 gaacctgcct gtgtcccagc ttggaggcct ggtcctggaa ctgagccggg gccctcactg
     2641 gcctcctcca gggatgatca acagggcagt gtggtctccg aatgtctgga agctgatgga
     2701 gctcagaatt ccactgtcaa gaaagagcag tagaggggtg tggctgggcc tgtcaccctg
     2761 gggccctcca ggtaggcccg ttttcacgtg gagcatggga gccacgaccc ttcttaagac
     2821 atgtatcact gtagagggaa ggaacagagg ccctgggccc ttcctatcag aaggacatgg
     2881 tgaaggctgg gaacgtgagg agaggcaatg gccacggccc attttggctg tagcacatgg
     2941 cacgttggct gtgtggcctt ggcccacctg tgagtttaaa gcaaggcttt aaatgacttt
     3001 ggagagggtc acaaatccta aaagaagcat tgaagtgagg tgtcatggat taattgaccc
     3061 ctgtctatgg aattacatgt aaaacattat cttgtcactg tagtttggtt ttatttgaaa
     3121 acctgacaaa aaaaaagttc caggtgtgga atatgggggt tatctgtaca tcctggggca
     3181 ttaaaaaaaa aatcaatggt ggggaactat aaagaagtaa caaaagaagt gacatcttca
     3241 gcaaataaac taggaaattt ttttttcttc cagtttagaa tcagccttga aacattgatg
     3301 gaataactct gtggcattat tgcattatat accatttatc tgtattaact ttggaatgta
     3361 ctctgttcaa tgtttaatgc tgtggttgat atttcgaaag ctgctttaaa aaaatacatg
     3421 catctcagcg tttttttgtt tttaattgta tttagttatg gcctatacac tatttgtgag
     3481 caaaggtgat cgttttctgt ttgagatttt tatctcttga ttcttcaaaa gcattctgag
     3541 aaggtgagat aagccctgag tctcagctac ctaagaaaaa cctggatgtc actggccact
     3601 gaggagcttt gtttcaacca agtcatgtgc atttccacgt caacagaatt gtttattgtg
     3661 acagttatat ctgttgtccc tttgaccttg tttcttgaag gtttcctcgt ccctgggcaa
     3721 ttccgcattt aattcatggt attcaggatt acatgcatgt ttggttaaac ccatgagatt
     3781 cattcagtta aaaatccaga tggcaaatga ccagcagatt caaatctatg gtggtttgac
     3841 ctttagagag ttgctttacg tggcctgttt caacacagac ccacccagag ccctcctgcc
     3901 ctccttccgc gggggctttc tcatggctgt ccttcagggt cttcctgaaa tgcagtggtg
     3961 cttacgctcc accaagaaag caggaaacct gtggtatgaa gccagacctc cccggcgggc
     4021 ctcagggaac agaatgatca gacctttgaa tgattctaat ttttaagcaa aatattattt
     4081 tatgaaaggt ttacattgtc aaagtgatga atatggaata tccaatcctg tgctgctatc
     4141 ctgccaaaat cattttaatg gagtcagttt gcagtatgct ccacgtggta agatcctcca
     4201 agctgcttta gaagtaacaa tgaagaacgt ggacgttttt aatataaagc ctgttttgtc
     4261 ttttgttgtt gttcaaacgg gattcacaga gtatttgaaa aatgtatata tattaagagg
     4321 tcacgggggc taattgctgg ctggctgcct tttgctgtgg ggttttgtta cctggtttta
     4381 ataacagtaa atgtgcccag cctcttggcc ccagaactgt acagtattgt ggctgcactt
     4441 gctctaagag tagttgatgt tgcattttcc ttattgttaa aaacatgtta gaagcaatga
     4501 atgtatataa aagcctcaac tagtcatttt tttctcctct tctttttttt cattatatct
     4561 aattattttg cagttgggca acagagaacc atccctattt tgtattgaag agggattcac
     4621 atctgcatct taactgctct ttatgaatga aaaaacagtc ctctgtatgt actcctcttt
     4681 acactggcca gggtcagagt taaatagagt atatgcactt tccaaattgg ggacaagggc
     4741 tctaaaaaaa gccccaaaag gagaagaaca tctgagaacc tcctcggccc tcccagtccc
     4801 tcgctgcaca aatactccgc aagagaggcc agaatgacag ctgacagggt ctatggccat
     4861 cgggtcgtct ccgaagattt ggcaggggca gaaaactctg gcaggcttaa gatttggaat
     4921 aaagtcacag aattaaggaa gcacctcaat ttagttcaaa caagacgcca acattctctc
     4981 cacagctcac ttacctctct gtgttcagat gtggccttcc atttatatgt gatctttgtt
     5041 ttattagtaa atgcttatca tctaaagatg tagctctggc ccagtgggaa aaattaggaa
     5101 gtgattataa atcgagagga gttataataa tcaagattaa atgtaaataa tcagggcaat
     5161 cccaacacat gtctagcttt cacctccagg atctattgag tgaacagaat tgcaaatagt
     5221 ctctatttgt aattgaactt atcctaaaac aaatagttta taaatgtgaa cttaaactct
     5281 aattaattcc aactgtactt ttaaggcagt ggctgttttt agactttctt atcacttata
     5341 gttagtaatg tacacctact ctatcagaga aaaacaggaa aggctcgaaa tacaagccat
     5401 tctaaggaaa ttagggagtc agttgaaatt ctattctgat cttattctgt ggtgtctttt
     5461 gcagcccaga caaatgtggt tacacacttt ttaagaaata caattctaca ttgtcaagct
     5521 tatgaaggtt ccaatcagat ctttattgtt attcaatttg gatctttcag ggattttttt
     5581 tttaaattat tatgggacaa aggacatttg ttggaggggt gggagggagg aagaattttt
     5641 aaatgtaaaa cattcccaag tttggatcag ggagttggaa gttttcagaa taaccagaac
     5701 taagggtatg aaggacctgt attggggtcg atgtgatgcc tctgcgaaga accttgtgtg
     5761 acaaatgaga aacattttga agtttgtggt acgaccttta gattccagag acatcagcat
     5821 ggctcaaagt gcagctccgt ttggcagtgc aatggtataa atttcaagct ggatatgtct
     5881 aatgggtatt taaacaataa atgtgcagtt ttaactaaca ggatatttaa tgacaacctt
     5941 ctggttggta gggacatctg tttctaaatg tttattatgt acaatacaga aaaaaatttt
     6001 ataaaattaa gcaatgtgaa actgaattgg agagtgataa tacaagtcct ttagtcttac
     6061 ccagtgaatc attctgttcc atgtctttgg acaaccatga ccttggacaa tcatgaaata
     6121 tgcatctcac tggatgcaaa gaaaatcaga tggagcatga atggtactgt accggttcat
     6181 ctggactgcc ccagaaaaat aacttcaagc aaacatccta tcaacaacaa ggttgttctg
     6241 cataccaagc tgagcacaga agatgggaac actggtggag gatggaaagg ctcgctcaat
     6301 caagaaaatt ctgagactat taataaataa gactgtagtg tagatactga gtaaatccat
     6361 gcacctaaac cttttggaaa atctgccgtg ggccctccag atagctcatt tcattaagtt
     6421 tttccctcca aggtagaatt tgcaagagtg acagtggatt gcatttcttt tggggaagct
     6481 ttcttttggt ggttttgttt attatacctt cttaagtttt caaccaaggt ttgcttttgt
     6541 tttgagttac tggggttatt tttgttttaa ataaaaataa gtgtacaata agtgtttttg
     6601 tattgaaagc ttttgttatc aagattttca tacttttacc ttccatggct ctttttaaga
     6661 ttgatacttt taagaggtgg ctgatattct gcaacactgt acacataaaa aatacggtaa
     6721 ggatacttta catggttaag gtaaagtaag tctccagttg gccaccatta gctataatgg
     6781 cactttgttt gtgttgttgg aaaaagtcac attgccatta aactttcctt gtctgtctag
     6841 ttaatattgt gaagaaaaat aaagtacagt gtgagatact g
//
