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2024-03-29 00:14:27, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_138639               1893 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript
            variant 1, mRNA.
ACCESSION   NM_138639
VERSION     NM_138639.1  GI:20336329
KEYWORDS    RefSeq.
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 1893)
  AUTHORS   Thomadaki,H., Floros,K.V., Pavlovic,S., Tosic,N., Gourgiotis,D.,
            Colovic,M. and Scorilas,A.
  TITLE     Overexpression of the novel member of the BCL2 gene family,
            BCL2L12, is associated with the disease outcome in patients with
            acute myeloid leukemia
  JOURNAL   Clin. Biochem. 45 (16-17), 1362-1367 (2012)
   PUBMED   22728012
  REMARK    GeneRIF: BCL2L12 can be considered as a new independent prognostic
            and chemotherapy response marker in acute myeloid leukemia.
REFERENCE   2  (bases 1 to 1893)
  AUTHORS   Kontos,C.K. and Scorilas,A.
  TITLE     Molecular cloning of novel alternatively spliced variants of
            BCL2L12, a new member of the BCL2 gene family, and their expression
            analysis in cancer cells
  JOURNAL   Gene 505 (1), 153-166 (2012)
   PUBMED   22664385
  REMARK    GeneRIF: Molecular cloning of novel alternatively spliced variants
            of BCL2L12, a new member of the BCL2 gene family, and their
            expression analysis in cancer cells.
REFERENCE   3  (bases 1 to 1893)
  AUTHORS   Chou,C.H., Chou,A.K., Lin,C.C., Chen,W.J., Wei,C.C., Yang,M.C.,
            Hsu,C.M., Lung,F.W., Loh,J.K., Howng,S.L. and Hong,Y.R.
  TITLE     GSK3beta regulates Bcl2L12 and Bcl2L12A anti-apoptosis signaling in
            glioblastoma and is inhibited by LiCl
  JOURNAL   Cell Cycle 11 (3), 532-542 (2012)
   PUBMED   22262180
  REMARK    GeneRIF: The BCL2L12(153-191) fragment directly interrupted
            GSK3beta mediated Tau phosphorylation.
REFERENCE   4  (bases 1 to 1893)
  AUTHORS   Kouri,F.M., Jensen,S.A. and Stegh,A.H.
  TITLE     The role of Bcl-2 family proteins in therapy responses of malignant
            astrocytic gliomas: Bcl2L12 and beyond
  JOURNAL   ScientificWorldJournal 2012, 838916 (2012)
   PUBMED   22431925
  REMARK    GeneRIF: studies began to define the molecular mechanisms
            underlying therapy resistance of GBM tumors, and pointed to the
            Bcl-2 protein family, in particular the atypical member Bcl2-Like
            12 (Bcl2L12), as important regulators of therapy-induced cell death
            Review article
REFERENCE   5  (bases 1 to 1893)
  AUTHORS   Papageorgiou,S.G., Kontos,C.K., Pappa,V., Thomadaki,H.,
            Kontsioti,F., Dervenoulas,J., Papageorgiou,E., Economopoulos,T. and
            Scorilas,A.
  TITLE     The novel member of the BCL2 gene family, BCL2L12, is substantially
            elevated in chronic lymphocytic leukemia patients, supporting its
            value as a significant biomarker
  JOURNAL   Oncologist 16 (9), 1280-1291 (2011)
   PUBMED   21737576
  REMARK    GeneRIF: BCL2L12 mRNA expression is significantly higher in CLL
            patients than in healthy blood donors.
REFERENCE   6  (bases 1 to 1893)
  AUTHORS   Mathioudaki,K., Scorilas,A., Papadokostopoulou,A., Xynopoulos,D.,
            Arnogianaki,N., Agnanti,N. and Talieri,M.
  TITLE     Expression analysis of BCL2L12, a new member of apoptosis-related
            genes, in colon cancer
  JOURNAL   Biol. Chem. 385 (9), 779-783 (2004)
   PUBMED   15493871
  REMARK    GeneRIF: The BCL2L12-A transcript appears to be of importance for
            colon cancer since its expression is associated with disease
            progression.
REFERENCE   7  (bases 1 to 1893)
  AUTHORS   Hillman,R.T., Green,R.E. and Brenner,S.E.
  TITLE     An unappreciated role for RNA surveillance
  JOURNAL   Genome Biol. 5 (2), R8 (2004)
   PUBMED   14759258
REFERENCE   8  (bases 1 to 1893)
  AUTHORS   Talieri,M., Diamandis,E.P., Katsaros,N., Gourgiotis,D. and
            Scorilas,A.
  TITLE     Expression of BCL2L12, a new member of apoptosis-related genes, in
            breast tumors
  JOURNAL   Thromb. Haemost. 89 (6), 1081-1088 (2003)
   PUBMED   12783122
  REMARK    GeneRIF: RT-PCR in 70 breast cancer tissues demonstrated that
            BCL2L12 positive breast tumors are mainly of lower stage (I/II) or
            grade (I/II) and BCL2L12 expression is positively related to
            disease-free and overall survival
REFERENCE   9  (bases 1 to 1893)
  AUTHORS   Hammond,P.W., Alpin,J., Rise,C.E., Wright,M. and Kreider,B.L.
  TITLE     In vitro selection and characterization of Bcl-X(L)-binding
            proteins from a mix of tissue-specific mRNA display libraries
  JOURNAL   J. Biol. Chem. 276 (24), 20898-20906 (2001)
   PUBMED   11283018
REFERENCE   10 (bases 1 to 1893)
  AUTHORS   Scorilas,A., Kyriakopoulou,L., Yousef,G.M., Ashworth,L.K.,
            Kwamie,A. and Diamandis,E.P.
  TITLE     Molecular cloning, physical mapping, and expression analysis of a
            novel gene, BCL2L12, encoding a proline-rich protein with a highly
            conserved BH2 domain of the Bcl-2 family
  JOURNAL   Genomics 72 (2), 217-221 (2001)
   PUBMED   11401436
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC007724.2 and AF289220.1.
            
            Summary: The protein encoded by this gene belongs to the BCL-2
            protein family. BCL-2 family members form hetero- or homodimers and
            act as anti- or pro-apoptotic regulators that are involved in a
            wide variety of cellular activities. This protein contains a Bcl-2
            homology domain 2 (BH2). The function of this gene has not yet been
            determined. Two alternatively spliced transcript variants of this
            gene encoding distinct isoforms have been reported. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: BC007724.2, BC104005.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.3"
     gene            1..1893
                     /gene="BCL2L12"
                     /note="BCL2-like 12 (proline rich)"
                     /db_xref="GeneID:83596"
                     /db_xref="HGNC:13787"
                     /db_xref="HPRD:16543"
                     /db_xref="MIM:610837"
     exon            1..926
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     STS             425..1800
                     /gene="BCL2L12"
                     /db_xref="UniSTS:487127"
     variation       complement(473)
                     /gene="BCL2L12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2304206"
     variation       complement(529)
                     /gene="BCL2L12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2304205"
     variation       complement(542)
                     /gene="BCL2L12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3204440"
     variation       complement(622)
                     /gene="BCL2L12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2304204"
     misc_feature    665..667
                     /gene="BCL2L12"
                     /note="upstream in-frame stop codon"
     CDS             683..1687
                     /gene="BCL2L12"
                     /note="isoform 1 is encoded by transcript variant 1; Bcl-2
                     related proline-rich protein; bcl-2-like protein 12;
                     bcl2-L-12; bcl-2-related proline-rich protein"
                     /codon_start=1
                     /product="bcl-2-like protein 12 isoform 1"
                     /protein_id="NP_619580.1"
                     /db_xref="GI:20336330"
                     /db_xref="CCDS:CCDS12776.1"
                     /db_xref="GeneID:83596"
                     /db_xref="HGNC:13787"
                     /db_xref="HPRD:16543"
                     /db_xref="MIM:610837"
                     /translation="
MGRPAGLFPPLCPFLGFRPEACWERHMQIERAPSVPPFLRWAGYRPGPVRRRGKVELIKFVRVQWRRPQVEWRRRRWGPGPGASMAGSEELGLREDTLRVLAAFLRRGEAAGSPVPTPPRSPAQEEPTDFLSRLRRCLPCSLGRGAAPSESPRPCSLPIRPCYGLEPGPATPDFYALVAQRLEQLVQEQLKSPPSPELQGPPSTEKEAILRRLVALLEEEAEVINQKLASDPALRSKLVRLSSDSFARLVELFCSRDDSSRPSRACPGPPPPSPEPLARLALAMELSRRVAGLGGTLAGLSVEHVHSFTPWIQAHGGWEGILAVSPVDLNLPLD
"
     misc_feature    1019..1021
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9HB09.1); phosphorylation site"
     misc_feature    1031..1033
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine; propagated from
                     UniProtKB/Swiss-Prot (Q9HB09.1); phosphorylation site"
     misc_feature    1043..1045
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9HB09.1); phosphorylation site"
     misc_feature    1406..1408
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9HB09.1); phosphorylation site"
     misc_feature    1406..1408
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1409..1411
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q9HB09.1); phosphorylation site"
     misc_feature    1613..1648
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9HB09.1);
                     Region: BH2"
     exon            927..1041
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     exon            1042..1184
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     exon            1185..1271
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     exon            1272..1363
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     exon            1364..1636
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     exon            1637..1855
                     /gene="BCL2L12"
                     /inference="alignment:Splign:1.39.8"
     STS             1660..1780
                     /gene="BCL2L12"
                     /standard_name="STS-H72005"
                     /db_xref="UniSTS:24135"
     STS             1698..1828
                     /gene="BCL2L12"
                     /standard_name="SGC33962"
                     /db_xref="UniSTS:59826"
     STS             1706..1815
                     /gene="BCL2L12"
                     /standard_name="RH18543"
                     /db_xref="UniSTS:63833"
     polyA_signal    1812..1817
                     /gene="BCL2L12"
     polyA_site      1855
                     /gene="BCL2L12"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      
aagtaagtatccccactttcagggtagcatcctctttccctagttatttcagtgcagaatcgattcacgtgtaagcctctacctcctgcacttaccccaatgtagacccccttccacagtccccctacagaagatctcccaaaacatttccaacacagaacttccattcaattcccctccgactgcccgcctccctcctccaggacagagcacgccccaggtttcgagactgaactacccccatctacggagtccacccctccctctctagaaccccctcagtgtagacgcctcctcttttcctctttcctccctactttttctagtttttctgcagccgacctccagcgtcggccactgtagctccttccttgctccactttccccagagtacacagcctgcctttccactctccgtgcagacccatcctctttcccgctcctcgctctcggacgccaccaacgctctcccgggctcttccgcgttacctacgatggaaggtcggggcgtgcgggcagctggaacccacccctgtcttggagctccgggtagctctcaaactcgaggctgcgcaccccctttcccgtcagctgagctctagagcgctggggctttctttttgatcgacttcttgaaataaaaccaactttatcattctttgggtaacagacccaaaagccgatgggacggcccgctgggctgttcccgcccctatgcccttttttgggtttccggccagaggcatgctgggagcgtcacatgcaaattgagcgtgcacccagcgttccgccctttctacgctgggccggttatcgacccggcccagtgcgcaggcgcgggaaagttgaactaataaagtttgtacgagttcagtggaggagaccgcaagttgagtggaggaggcggcggtggggccccggaccaggtgcctccatggcaggctctgaagagctggggctccgggaagacacgctgagggtcctagctgccttccttaggcgtggtgaggctgccgggtctcctgttccaactccacctagaagccctgcccaagaagagccaacagacttcctgagccgccttcgaagatgtcttccctgctccctggggcgaggagcagccccctctgagtcccctcggccttgctctctgcccatccgcccctgctatggtttagagcctggcccagctactccagacttctatgctttggtggcccagcggctggaacagctggtccaagagcagctgaaatctccgcccagcccagaattacagggtcccccatcgacagagaaggaagccatactgcggaggctggtggccctgctggaggaggaggcagaagtcattaaccagaagctggcctcggaccccgccctgcgcagcaagctggtccgcctgtcctccgactctttcgcccgcctggtggagctgttctgtagccgggatgacagctctcgcccaagccgagcatgccccgggcccccgcctccttccccggagcccctggcccgcctggccctagccatggagctgagccggcgcgtggccgggctggggggcaccctggccggactcagcgtggagcacgtgcacagcttcacgccctggatccaggcccacgggggctgggagggcatcctggctgtttcacccgtggacttgaacttgccattggactgagctctttctcagaagctgctacaagatgacacctcatgtccctgccctcttcgtgtgcttttccaagtcttcctattccactcagggctgtggggtggtggttgccctacctgtttttgccaaaaataaattgtttaaaacttttcttattaaaaacgttacaaagtaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:83596 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA

by @meso_cacase at DBCLS
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