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
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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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