LOCUS       NM_138723               1897 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens BCL2 like 14 (BCL2L14), transcript variant 4, mRNA.
ACCESSION   NM_138723
VERSION     NM_138723.2
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 1897)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   2  (bases 1 to 1897)
  AUTHORS   Shelton,J.F., Shastri,A.J., Ye,C., Weldon,C.H.,
            Filshtein-Sonmez,T., Coker,D., Symons,A., Esparza-Gordillo,J.,
            Aslibekyan,S. and Auton,A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     Trans-ancestry analysis reveals genetic and nongenetic associations
            with COVID-19 susceptibility and severity
  JOURNAL   Nat Genet 53 (6), 801-808 (2021)
   PUBMED   33888907
REFERENCE   3  (bases 1 to 1897)
  AUTHORS   Lee,S., Hu,Y., Loo,S.K., Tan,Y., Bhargava,R., Lewis,M.T. and
            Wang,X.S.
  TITLE     Landscape analysis of adjacent gene rearrangements reveals
            BCL2L14-ETV6 gene fusions in more aggressive triple-negative breast
            cancer
  JOURNAL   Proc Natl Acad Sci U S A 117 (18), 9912-9921 (2020)
   PUBMED   32321829
  REMARK    GeneRIF: these data reveal adjacent gene rearrangements as a class
            of underexplored genetic aberrations that could be pathological in
            breast cancer, and identify BCL2L14-ETV6 as a recurrent gene fusion
            in more aggressive form of Triple-negative breast cancer tumor
REFERENCE   4  (bases 1 to 1897)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1897)
  AUTHORS   Liu,X., Pan,Z., Zhang,L., Sun,Q., Wan,J., Tian,C., Xing,G.,
            Yang,J., Liu,X., Jiang,J. and He,F.
  TITLE     JAB1 accelerates mitochondrial apoptosis by interaction with
            proapoptotic BclGs
  JOURNAL   Cell Signal 20 (1), 230-240 (2008)
   PUBMED   18006276
  REMARK    GeneRIF: JAB1 is involved in the regulation of mitochondrial
            apoptotic pathway through specific interaction with BclGs.
REFERENCE   6  (bases 1 to 1897)
  AUTHORS   Montpetit,A., Larose,J., Boily,G., Langlois,S., Trudel,N. and
            Sinnett,D.
  TITLE     Mutational and expression analysis of the chromosome 12p candidate
            tumor suppressor genes in pre-B acute lymphoblastic leukemia
  JOURNAL   Leukemia 18 (9), 1499-1504 (2004)
   PUBMED   15284860
REFERENCE   7  (bases 1 to 1897)
  AUTHORS   Kutsenko,A.S., Gizatullin,R.Z., Al-Amin,A.N., Wang,F., Kvasha,S.M.,
            Podowski,R.M., Matushkin,Y.G., Gyanchandani,A., Muravenko,O.V.,
            Levitsky,V.G., Kolchanov,N.A., Protopopov,A.I., Kashuba,V.I.,
            Kisselev,L.L., Wasserman,W., Wahlestedt,C. and Zabarovsky,E.R.
  TITLE     NotI flanking sequences: a tool for gene discovery and verification
            of the human genome
  JOURNAL   Nucleic Acids Res 30 (14), 3163-3170 (2002)
   PUBMED   12136098
REFERENCE   8  (bases 1 to 1897)
  AUTHORS   Montpetit,A., Boily,G. and Sinnett,D.
  TITLE     A detailed transcriptional map of the chromosome 12p12 tumour
            suppressor locus
  JOURNAL   Eur J Hum Genet 10 (1), 62-71 (2002)
   PUBMED   11896457
REFERENCE   9  (bases 1 to 1897)
  AUTHORS   Ozalp,S.S., Yalcin,O.T., Tanir,H.M., Dundar,E. and Yildirim,S.
  TITLE     Bcl-2 expression in preinvasive and invasive cervical lesions
  JOURNAL   Eur J Gynaecol Oncol 23 (5), 419-422 (2002)
   PUBMED   12440815
REFERENCE   10 (bases 1 to 1897)
  AUTHORS   Guo,B., Godzik,A. and Reed,J.C.
  TITLE     Bcl-G, a novel pro-apoptotic member of the Bcl-2 family
  JOURNAL   J Biol Chem 276 (4), 2780-2785 (2001)
   PUBMED   11054413
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007537.3 and BC025778.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_138723.1.
            
            Summary: The protein encoded by this gene belongs to the BCL2
            protein family. BCL2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. Overexpression of this gene
            has been shown to induce apoptosis in cells. Three alternatively
            spliced transcript variants encoding two distinct isoforms have
            been reported for this gene. [provided by RefSeq, May 2009].
            
            Transcript Variant: This variant (4) contains a distinct 5' UTR
            region, and encodes the identical isoform (1), when compared to
            variant 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 :: BC025778.1, AK223415.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000308721.9/ ENSP00000309132.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC007537.3         40145-40149
            6-1897              BC025778.1         1-1892
FEATURES             Location/Qualifiers
     source          1..1897
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.2"
     gene            1..1897
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="BCL2 like 14"
                     /db_xref="GeneID:79370"
                     /db_xref="HGNC:HGNC:16657"
                     /db_xref="MIM:606126"
     exon            1..199
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     exon            200..639
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     CDS             207..1190
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="isoform 1 is encoded by transcript variant 4;
                     apoptosis regulator BCL-G; apoptosis facilitator
                     Bcl-2-like protein 14; bcl2-L-14; BCL2-like 14 (apoptosis
                     facilitator); testicular tissue protein Li 26"
                     /codon_start=1
                     /product="apoptosis facilitator Bcl-2-like protein 14
                     isoform 1"
                     /protein_id="NP_620049.1"
                     /db_xref="CCDS:CCDS8645.1"
                     /db_xref="GeneID:79370"
                     /db_xref="HGNC:HGNC:16657"
                     /db_xref="MIM:606126"
                     /translation="MCSTSGCDLEEIPLDDDDLNTIEFKILAYYTRHHVFKSTPALFS
                     PKLLRTRSLSQRGLGNCSANESWTEVSWPCRNSQSSEKAINLGKKKSSWKAFFGVVEK
                     EDSQSTPAKVSAQGQRTLEYQDSHSQQWSRCLSNVEQCLEHEAVDPKVISIANRVAEI
                     VYSWPPPQATQAGGFKSKEIFVTEGLSFQLQGHVPVASSSKKDEEEQILAKIVELLKY
                     SGDQLERKLKKDKALMGHFQDGLSYSVFKTITDQVLMGVDPRGESEVKAQGFKAALVI
                     DVTAKLTAIDNHPMNRVLGFGTKYLKENFSPWIQQHGGWEKILGISHEEVD"
     exon            640..813
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     exon            814..884
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1151
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1897
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="hexamer: GATAAA"
     polyA_site      1575
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="major polyA site"
     regulatory      1868..1873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="hexamer: AATAAA"
     regulatory      1872..1877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
                     /note="hexamer: AATACA"
     polyA_site      1886
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
     polyA_site      1897
                     /gene="BCL2L14"
                     /gene_synonym="BCLG"
ORIGIN      
        1 ctcttttcag gctgagtcct aaacctgaag aaagtttaga gcctggggct ctaaactacc
       61 tgagtctttc caaacgacaa gccaagaaga cctgttgaaa gtttcctctt aagtttcgtg
      121 gagagagact caggtataga aatatcctta ctgccacctg acctgaagca gaagaaatca
      181 cagacagctt ccagaccagg cccaacatgt gtagcaccag tgggtgtgac ctggaagaaa
      241 tccccctaga tgatgatgac ctaaacacca tagaattcaa aatcctcgcc tactacacca
      301 gacatcatgt cttcaagagc acccctgctc tcttctcacc aaagctgctg agaacaagaa
      361 gtttgtccca gaggggcctg gggaattgtt cagcaaatga gtcatggaca gaggtgtcat
      421 ggccttgcag aaattcccaa tccagtgaga aggccataaa ccttggcaag aaaaagtctt
      481 cttggaaagc attctttgga gtagtggaga aggaagattc gcagagcacg cctgccaagg
      541 tctctgctca gggtcaaagg acgttggaat accaagattc gcacagccag cagtggtcca
      601 ggtgtctttc taacgtggag cagtgcttgg agcatgaagc tgtggacccc aaagtcattt
      661 ccattgccaa ccgagtagct gaaattgttt actcctggcc accaccacaa gcgacccagg
      721 caggaggctt caagtccaaa gagatttttg taactgaggg tctctccttc cagctccaag
      781 gccacgtgcc tgtagcttca agttctaaga aagatgaaga agaacaaata ctagccaaaa
      841 ttgttgagct gctgaaatat tcaggagatc agttggaaag aaagctgaag aaagataagg
      901 ctttgatggg ccacttccag gatgggctgt cctactctgt tttcaagacc atcacagacc
      961 aggtcctaat gggtgtggac cccaggggag aatcagaggt caaagctcag ggctttaagg
     1021 ctgcccttgt aatagacgtc acggccaagc tcacagctat tgacaaccac ccgatgaaca
     1081 gggtcctggg ctttggcacc aagtacctga aagagaactt ctcgccatgg atccagcagc
     1141 acggtggatg ggaaaaaata cttgggatat cacatgaaga agtagactga aatatcagat
     1201 ttgtcatcag gaatactctt tgtctactgt ggtcctgtgc acgttggcct cagatggact
     1261 acaggagatt acaacgtaca aggcagatgg agcattgacg ttttcaaaac cattattcct
     1321 gtgactggag aggcatcagg agaggtctcg ttcgtctcca gctcataaaa tgtagcagca
     1381 tcatccttga cagtgatgtt tttcaggccc tccattgaga acctgaggaa atctgtaaag
     1441 ataagtggtg atgttgtttc aaacgttcag aacagatacc atcatcctgc ctttgttagc
     1501 tgctgtaggg aaagtgcgtt acagatgtct gctgacctca caagagtgaa aagataaact
     1561 gtgcatgtgt ttccacttcc gtttctagta ctatttattt ttaaactaca cttggggtgg
     1621 cctaatacct aggaagatgt tgctattcac gttagtaaac agcctaaaga aactcttagg
     1681 tttactgcta catccatttg tttggagagg taactgttgt ctgtgccttt ttgaaaaact
     1741 tccatttggt acaaaatttt tactccaaca ccccctcaac ccttttctca gggaccacac
     1801 ctcttcttcc caaggtccct gggacttcct cattctttgt ggtagtacaa tgattggtag
     1861 caggtaaaat aaatacatag aaagactact gtcaaaa
//
