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    BCL2L2 BCL2 like 2 [ Homo sapiens (human) ]

    Gene ID: 599, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BCL2L2provided by HGNC
    Official Full Name
    BCL2 like 2provided by HGNC
    Primary source
    HGNC:HGNC:995
    See related
    Ensembl:ENSG00000129473 MIM:601931; AllianceGenome:HGNC:995
    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]
    Expression
    Ubiquitous expression in brain (RPKM 35.0), fat (RPKM 31.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCL2L2 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23306833..23311751)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17507847..17512765)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23776042..23780960)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ring finger protein 212B Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23748940-23749440 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23749441-23749941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8168 Neighboring gene homeobox and leucine zipper encoding Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23762790-23763654 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23764306-23764618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5605 Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23776901-23777734 Neighboring gene H3 histone pseudogene 37 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23789757-23790407 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23790419-23791230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23791231-23792040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5608 Neighboring gene poly(A) binding protein nuclear 1 Neighboring gene solute carrier family 22 member 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Fisetin induces apoptosis in Huh-7 cells via downregulation of BIRC8 and Bcl2L2. Kim JY, et al. Food Chem Toxicol, 2010 Aug-Sep. PMID 20510331
    2. Bcl-w Enhances Mesenchymal Changes and Invasiveness of Glioblastoma Cells by Inducing Nuclear Accumulation of β-Catenin. Lee WS, et al. PLoS One, 2013. PMID 23826359, Free PMC Article
    3. Co-crystallization with conformation-specific designed ankyrin repeat proteins explains the conformational flexibility of BCL-W. Schilling J, et al. J Mol Biol, 2014 Jun 12. PMID 24747052
    4. 3-Hydroxy-3',4'-dimethoxyflavone suppresses Bcl-w-induced invasive potentials and stemness in glioblastoma multiforme. Bae IH, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24946210
    5. [Expression of Bcl-w protein in human small intestinal adenocarcinoma and effect of Bcl-w siRNA on apoptosis in intestinal adenocarcinoma HuTu-80 cells]. Guo WJ, et al. Zhonghua Zhong Liu Za Zhi, 2012 Mar. PMID 22780970

    See all (127) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BCL-W makes only minor contributions to MYC-driven lymphoma development.
      Title: BCL-W makes only minor contributions to MYC-driven lymphoma development.
    2. MiR-140 promotes the progression of intracranial aneurysms by targeting BCL2L2.
      Title: MiR-140 promotes the progression of intracranial aneurysms by targeting BCL2L2.
    3. Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
      Title: Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
    4. BCL-W expression associates with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified.
      Title: BCL-W expression associates with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified.
    5. BCL2L2 loss renders -14q renal cancer dependent on BCL2L1 that mediates resistance to tyrosine kinase inhibitors.
      Title: BCL2L2 loss renders -14q renal cancer dependent on BCL2L1 that mediates resistance to tyrosine kinase inhibitors.
    6. MT1JP-mediated miR-24-3p/BCL2L2 axis promotes Lenvatinib resistance in hepatocellular carcinoma cells by inhibiting apoptosis.
      Title: MT1JP-mediated miR-24-3p/BCL2L2 axis promotes Lenvatinib resistance in hepatocellular carcinoma cells by inhibiting apoptosis.
    7. Knockdown of circ_0011946 targets miR-216a-5p/BCL2L2 axis to regulate proliferation, migration, invasion and apoptosis of oral squamous cell carcinoma cells.
      Title: Knockdown of circ_0011946 targets miR-216a-5p/BCL2L2 axis to regulate proliferation, migration, invasion and apoptosis of oral squamous cell carcinoma cells.
    8. Long non-coding RNA KCNQ1OT1 promotes hydrogen peroxide-induced lens epithelial cell apoptosis and oxidative stress by regulating miR-223-3p/BCL2L2 axis.
      Title: Long non-coding RNA KCNQ1OT1 promotes hydrogen peroxide-induced lens epithelial cell apoptosis and oxidative stress by regulating miR-223-3p/BCL2L2 axis.
    9. results suggest that BCL-W is not universally required for the sustained growth and survival of human Burkitt lymphoma and diffuse large B-cell lymphoma cell lines
      Title: BCL-W is dispensable for the sustained survival of select Burkitt lymphoma and diffuse large B-cell lymphoma cell lines.
    10. BCL2L2 was identified as a target of miR-15.
      Title: Deletion of miR-15 Protects Against Rheumatoid Arthritis via Deregulating its Target Gene BCL2L2 and Repressing NF-κB Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough BCL2L2-PABPN1

    Readthrough gene: BCL2L2-PABPN1, Included gene: PABPN1

    Homology

    Clone Names

    • KIAA0271

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables disordered domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to amyloid-beta IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to glycine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial membrane permeability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of release of cytochrome c from mitochondria IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in release of cytochrome c from mitochondria IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Bcl-2 family protein complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of Bcl-2 family protein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001199839.2 → NP_001186768.2  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
      Consensus CDS
      CCDS9591.1
      UniProtKB/Swiss-Prot
      A8K0F4, Q2M3U0, Q5U0H4, Q92843
      Related
      ENSP00000504570.1, ENST00000678311.1
      Conserved Domains (1) summary
      TIGR00865
      Location:11 → 193
      bcl-2; apoptosis regulator

    2. NM_004050.5 → NP_004041.2  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
      Consensus CDS
      CCDS9591.1
      UniProtKB/Swiss-Prot
      A8K0F4, Q2M3U0, Q5U0H4, Q92843
      Related
      ENSP00000250405.6, ENST00000250405.10
      Conserved Domains (1) summary
      TIGR00865
      Location:11 → 193
      bcl-2; apoptosis regulator

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23306833..23311751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17507847..17512765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92843.2 GenPept UniProtKB/Swiss-Prot:Q92843

    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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