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    BCL2L2 BCL2 like 2 [ Homo sapiens (human) ]

    Gene ID: 599, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough BCL2L2-PABPN1

    Readthrough gene: BCL2L2-PABPN1, Included gene: PABPN1

    Clone Names

    • KIAA0271

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BH domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001199839.2NP_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:11193
      bcl-2; apoptosis regulator
    2. NM_004050.5NP_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:11193
      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)