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    BCL2L2 BCL2-like 2 [ Homo sapiens ]

    Gene ID: 599, updated on 21-Feb-2012
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    Summary

    Official Symbol
    BCL2L2provided by HGNC
    Official Full Name
    BCL2-like 2provided by HGNC
    Primary source
    HGNC:995
    See related
    Ensembl:ENSG00000129473; HPRD:03569; MIM:601931; Vega:OTTHUMG00000028738
    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
    BCLW; BCL-W; PPP1R51; BCL2-L-2
    Summary
    This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
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    Genomic context

    Location :
    14q11.2-q12
    Sequence :
    Chromosome: 14; NC_000014.8 (23775971..23780968)
    See BCL2L2 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene H3 histone, family 3A pseudogene 2 Neighboring gene protein phosphatase 1, regulatory subunit 3E Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene poly(A) binding protein, nuclear 1 Neighboring gene solute carrier family 22, member 17

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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. Crystal structure of a BCL-W domain-swapped dimer: implications for the function of BCL-2 family proteins. Lee EF, et al. Structure, 2011 Oct 12. PMID 22000515.
    2. miRNA-195 sensitizes human hepatocellular carcinoma cells to 5-FU by targeting BCL-w. Yang X, et al. Oncol Rep, 2012 Jan. PMID 21947305.
    3. Evidence that inhibition of BAX activation by BCL-2 involves its tight and preferential interaction with the BH3 domain of BAX. Ku B, et al. Cell Res, 2011 Apr. PMID 21060336.
    4. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. Kim DH, et al. Clin Cancer Res, 2010 Nov 1. PMID 20959405.
    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 (53) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. miR-195 could improve the drug sensitivity at least in part by targeting Bcl-w to increase cell apoptosis in hepatocellular carcinoma cells.
      Title: miRNA-195 sensitizes human hepatocellular carcinoma cells to 5-FU by targeting BCL-w.
    2. The alpha4-alpha5 hinge region is required for dimerization of BCL-W, and functioning of both pro- and antiapoptotic BCL-2 proteins.
      Title: Crystal structure of a BCL-W domain-swapped dimer: implications for the function of BCL-2 family proteins.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    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. over-expression of miR-133B increased apoptosis in response to gemcitabine and reduced MCL-1 and BCL2L2 expression.
      Title: MicroRNA 133B targets pro-survival molecules MCL-1 and BCL2L2 in lung cancer.
    6. Results show that the folate-induced DNA methylation limits proliferation and increases the sensitivity to temozolomide-induced apoptosis in glioma cells through methylation of PDGF-B, MGMT, survivin, and bcl-w genes.
      Title: Folate supplementation limits the aggressiveness of glioma via the remethylation of DNA repeats element and genes governing apoptosis and proliferation.
    7. both uPA and MMP-2 contribute to Bcl-w-induced invasion via the stimulation of the FAK-dependent migratory pathway.
      Title: Signaling components involved in Bcl-w-induced migration of gastric cancer cells.
    8. BCL-W may function as a downstream effector of inappropriate WNT/beta-catenin signalling.
      Title: The Bcl-w promoter is activated by beta-catenin/TCF4 in human colorectal carcinoma cells.
    9. Bcl-w is a new member of the Akt pathway
      Title: Akt regulates drug-induced cell death through Bcl-w downregulation.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia.
    Submit: New GeneRIF Correction See all (16)
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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
    NP_004041.1 NP_004313.1 BAD    BIND  PubMed Bad interacts with Bcl-w. 
    NP_004041.1 NP_055232.1 BBC3    BIND  PubMed Puma interacts with Bcl-w. 
    NP_004041.1 NP_006529.1 BCL2L11    BIND  PubMed Bim interacts with Bcl-w. 
    NP_004041.1 NP_001187.1 BID    BIND  PubMed Bid interacts with Bcl-w. 
    NP_004041.1 NP_001188.1 BIK    BIND  PubMed Bik interacts with Bcl-w. 
    NP_004041.1 NP_001003940.1 BMF    BIND  PubMed Bmf interacts with Bcl-w. This interaction was modelled on a demonstrated interaction between mouse Bmf and human Bcl-w. 
    NP_004041.1 NP_003797.1 HRK    BIND  PubMed Hrk interacts with Bcl-w. 
    Q92843 Q92934 BAD    HPRD  PubMed  
    Q92843 Q9BXH1 BBC3    HPRD  PubMed  
    Q92843 O43521 BCL2L11    HPRD  PubMed  
    Q92843 P55957 BID    HPRD  PubMed  
    Q92843 Q13323 BIK    HPRD  PubMed  
    Q92843 Q96LC9 BMF    HPRD  PubMed  
    Q92843 O00198 HRK    HPRD  PubMed  
    Q92843 P62136 PPP1CA    HPRD  PubMed  
    BioGRID:107071 BioGRID:107048 BAD    BioGRID  PubMed Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid 
    BioGRID:107071 BioGRID:107054 BAK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107071 BioGRID:107057 BAX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107071 BioGRID:115335 BCL2L11    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107071 BioGRID:107106 BID    BioGRID  PubMed Protein-peptide 
    BioGRID:107071 BioGRID:107107 BIK    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107071 BioGRID:124716 BMF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107071 BioGRID:198352 Bcl2l11    BioGRID  PubMed Protein-peptide 
    BioGRID:107071 BioGRID:114276 HRK    BioGRID  PubMed Protein-peptide 
    BioGRID:107071 BioGRID:111379 PMAIP1    BioGRID  PubMed Protein-peptide 
    BioGRID:107071 BioGRID:111493 PPP1CA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Readthrough BCL2L2-PABPN1

    Readthrough gene: BCL2L2-PABPN1, Included gene: PABPN1

    Homology

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors

    Clone Names

    • KIAA0271

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    anti-apoptosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    bcl-2-like protein 2
    Names
    bcl-2-like protein 2
    apoptosis regulator BCL-W
    protein phosphatase 1, regulatory subunit 51
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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_001199839.1 → NP_001186768.1  bcl-2-like protein 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL049829, BC104789, BQ001111, BQ359913, DA288957, DA451936
      Consensus CDS
      CCDS9591.1
      UniProtKB/Swiss-Prot
      Q92843
      Related
      ENSP00000451701, OTTHUMP00000246228, ENST00000557236, OTTHUMT00000413761
      Conserved Domains (1) summary
      cd06845
      Location:9 – 147
      Blast Score: 355
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

    2. NM_004050.4 → NP_004041.1  bcl-2-like protein 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL049829, BC104789, BP216712, BQ001111, BQ359913
      Consensus CDS
      CCDS9591.1
      UniProtKB/Swiss-Prot
      Q92843
      Related
      ENSP00000250405, OTTHUMP00000027940, ENST00000250405, OTTHUMT00000071763
      Conserved Domains (1) summary
      cd06845
      Location:9 – 147
      Blast Score: 355
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

    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_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      23775971..23780968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      3892647..3897644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL049829.4 (88873..93805) None
    genomic CH471078.2 EAW66169.1
    mRNA AA524030.1 None
    mRNA AA741032.1 None
    mRNA AK289519.1 BAF82208.1
    mRNA BC021198.2 AAH21198.1
    mRNA BC104789.1 AAI04790.1
    mRNA BC113522.1 AAI13523.1
    mRNA BP216712.1 None
    mRNA BQ001111.1 None
    mRNA BQ359913.1 None
    mRNA BT019549.1 AAV38356.1
    mRNA D87461.1 BAA19666.2
    mRNA DA196433.1 None
    mRNA DA288957.1 None
    mRNA DA451936.1 None
    mRNA U59747.1 AAB09055.1
    other-genetic HQ258092.1 ADR82846.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q92843.2 GenPept UniProtKB/Swiss-Prot:Q92843
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    Additional Links

    Additional Links

    Gene LinkOut

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

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