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BCL2L2 BCL2 like 2 [ Homo sapiens (human) ]

Gene ID: 599, updated on 11-Apr-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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Location:
14q11.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23306833..23311751)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17507847..17512765)
105.20220307 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
  • 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. BCL-W expression associates with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified. Marques-Piubelli ML, et al. Blood Cancer J, 2021 Sep 16. PMID 34531377, Free PMC Article
  2. BCL-W is dispensable for the sustained survival of select Burkitt lymphoma and diffuse large B-cell lymphoma cell lines. Diepstraten ST, et al. Blood Adv, 2020 Jan 28. PMID 31985804, Free PMC Article
  3. Non-Hodgkin and Hodgkin Lymphomas Select for Overexpression of BCLW. Adams CM, et al. Clin Cancer Res, 2017 Nov 15. PMID 28855351, Free PMC Article
  4. Down-Regulation of MicroRNA-133b Suppresses Apoptosis of Lens Epithelial Cell by Up-Regulating BCL2L2 in Age-Related Cataracts. Zhang F, et al. Med Sci Monit, 2016 Nov 1. PMID 27802259, Free PMC Article
  5. BCL-W is a regulator of microtubule inhibitor-induced mitotic cell death. Huang S, et al. Oncotarget, 2016 Jun 21. PMID 27231850, Free PMC Article

See all (121) 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 BH domain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables BH domain binding IEA
Inferred from Electronic Annotation
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 activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
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 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
  

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_2023_10

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

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