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    BCL2L12 BCL2-like 12 (proline rich) [ Homo sapiens ]

    Gene ID: 83596, updated on 20-May-2012
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    Summary

    Official Symbol
    BCL2L12provided by HGNC
    Official Full Name
    BCL2-like 12 (proline rich)provided by HGNC
    Primary source
    HGNC:13787
    See related
    Ensembl:ENSG00000126453; HPRD:16543; MIM:610837
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGC120313; MGC120314; MGC120315
    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]
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    Genomic context

    Location :
    19q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (50168399..50177173)
    See BCL2L12 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene related RAS viral (r-ras) oncogene homolog Neighboring gene SR-related CTD-associated factor 1 Neighboring gene interferon regulatory factor 3 Neighboring gene protein arginine methyltransferase 1 Neighboring gene chromosome 19 open reading frame 76

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. The novel member of the BCL2 gene family, BCL2L12, is substantially elevated in chronic lymphocytic leukemia patients, supporting its value as a significant biomarker. Papageorgiou SG, et al. Oncologist, 2011. PMID 21737576.
    4. BCL2L12 is a novel biomarker for the prediction of short-term relapse in nasopharyngeal carcinoma. Fendri A, et al. Mol Med, 2011 Mar-Apr. PMID 21152697.
    5. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. Kelly JL, et al. Cancer Epidemiol Biomarkers Prev, 2010 Nov. PMID 20855536.

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. BCL2L12 mRNA expression is significantly higher in CLL patients than in healthy blood donors.
      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.
    2. Data indicate BCL2L12 expression to be an unfavorable and independent prognostic indicator of short-term relapse in nasopharyngeal carcinoma.
      Title: BCL2L12 is a novel biomarker for the prediction of short-term relapse in nasopharyngeal carcinoma.
    3. Bortezomib inhibited the proliferation of SHI-1 cells. Bcl2l12 mRNA expression was up-regulated, bcl-2 mRNA expression was down-regulated and bax mRNA expression was not changed.
      Title: [Inducing-apoptosis effect of bortezomib on acute monocytic leukemia cell SHI-1 and its influence on expressions of Bcl2l12, Bcl-2 and Bax genes].
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma.
    6. these results open new horizons for the possible application of BCL2L12 as a novel prognostic indicator of gastric cancer.
      Title: Molecular analysis and prognostic impact of the novel apoptotic gene BCL2L12 in gastric cancer.
    7. both BCL2L12 and BCL2L12A have negative effects on cell growths, and that BCL2L12A is a potential cell cycle regulator that interferes with G2-M transition
      Title: BCL2L12A localizes to the cell nucleus and induces growth inhibition through G2/M arrest in CHO cells.
    8. Results indicate and support the hypothesis that the apoptosis-related genes BCL2 and BCL2L12 respond similarly to treatment
      Title: Molecular response of HL-60 cells to mitotic inhibitors vincristine and taxol visualized with apoptosis-related gene expressions, including the new member BCL2L12.
    9. HSP70 was identified to interact with BCL2L12 and BCL2L12A and protected them from ubiquitinations and degradations in mammalian cells
      Title: HSP70 protects BCL2L12 and BCL2L12A from N-terminal ubiquitination-mediated proteasomal degradation.
    10. Data suggest that BCL2L12 and BCL2L12A may play an important role in cisplatin-induced apoptosis in MDA-MB-231 breast cancer cells.
      Title: Knockdown of BCL2L12 leads to cisplatin resistance in MDA-MB-231 breast cancer cells.
    Submit: New GeneRIF Correction See all (14)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9HB09 Q07817 BCL2L1    HPRD  PubMed  
    BioGRID:123692 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:123692 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    bcl-2-like protein 12
    Names
    bcl-2-like protein 12
    bcl2-L-12
    Bcl-2 related proline-rich protein
    bcl-2-related proline-rich protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040668.1 → NP_001035758.1  bcl-2-like protein 12 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is slightly shorter compared to isoform 1.
      Source sequence(s)
      AC011495, BC007724, BC104004
      Consensus CDS
      CCDS46144.1
      UniProtKB/Swiss-Prot
      Q9HB09
      Related
      ENSP00000393803, ENST00000441864

    2. NM_138639.1 → NP_619580.1  bcl-2-like protein 12 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF289220, BC007724
      Consensus CDS
      CCDS12776.1
      UniProtKB/Swiss-Prot
      Q9HB09
      Related
      ENSP00000246785, ENST00000246785

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      50168399..50177173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      46545171..46553945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_052842.2: Suppressed sequence

      Description
      NM_052842.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC011495.8 (90950..99724) None
    genomic AF289220.1 AAG29495.1
      AAG29496.1
    genomic CH471177.1 EAW52514.1
      EAW52515.1
      EAW52516.1
      EAW52517.1
    mRNA BC007724.2 AAH07724.2
    mRNA BC104004.1 AAI04005.1
    mRNA BC104005.1 AAI04006.1
    mRNA BC104006.1 AAI04007.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB09.1 GenPept UniProtKB/Swiss-Prot:Q9HB09
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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