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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCL2 Gene

protein-coding   GIFtS: 75
GCID: GC18M060763

B-Cell CLL/Lymphoma 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
B-Cell CLL/Lymphoma 21 2     PPP1R502
Protein Phosphatase 11     Apoptosis Regulator Bcl-22
Regulatory Subunit 501     Protein Phosphatase 1, Regulatory Subunit 502
Bcl-22     

External Ids:    HGNC: 9901   Entrez Gene: 5962   Ensembl: ENSG000001717917   OMIM: 1514305   UniProtKB: P104153   

Export aliases for BCL2 gene to outside databases

Previous GC identifers: GC18M060629 GC18M058939 GC18M058941 GC18M057487


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCL2 Gene:
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells
such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy
chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate
splicing, differ in their C-terminal ends. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCL2 Gene: 
BCL2 (B-cell CLL/lymphoma 2) is a protein-coding gene. Diseases associated with BCL2 include follicular lymphoma, and benign mammary dysplasia, and among its related super-pathways are HIV-1 Nef- Negative effector of Fas and TNF-alpha and Apoptosis and survival FAS signaling cascades. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is BAK1.

UniProtKB/Swiss-Prot: BCL2_HUMAN, P10415
Function: Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and
neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in
a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c
from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1)

summary for BCL2 Gene:
Bcl-2 family proteins regulate and contribute to programmed cell death or apoptosis. It is a large protein
family and all members contain at least one of four BH (bcl-2 homology) domains. Certain members such as
Bcl-2, Bcl-xl and Mcl1 are anti-apoptotic, whilst others are pro-apoptotic. The pro-apoptotic group of Bcl-2
proteins can be further sub-divided into the structurally diverse 'BH3' only proteins (e.g. Bid, Noxa, Puma
and Bad) and the multidomain proteins that share BH1 to 3 (e.g. Bax and Bak). Most Bcl-2 family members
contain a C-terminal transmembrane domain that functions to target these proteins to the outer mitochondrial
and other intracellular membranes.

Gene Wiki entry for BCL2 (Bcl-2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCL2 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): BCL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3   Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q21.3

BCL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M060763:  view genomic region     (about GC identifiers)

Start:
60,790,579 bp from pter      End:
60,987,361 bp from pter
Size:
196,783 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCL2_HUMAN, P10415 (See protein sequence)
Recommended Name: Apoptosis regulator Bcl-2  
Size: 239 amino acids; 26266 Da
Subunit: Forms homodimers, and heterodimers with BAX, BAD, BAK and Bcl-X(L). Heterodimerization with BAX requires
intact BH1 and BH2 motifs, and is necessary for anti-apoptotic activity (By similarity). Interacts with EI24 (By
similarity). Also interacts with APAF1, BBC3, BCL2L1, BNIPL, MRPL41 and TP53BP2. Binding to FKBP8 seems to target
BCL2 to the mitochondria and probably interferes with the binding of BCL2 to its targets. Interacts with BAG1 in
an ATP-dependent manner. Interacts with RAF1 (the 'Ser-338' and 'Ser-339' phosphorylated form). Interacts (via
the BH4 domain) with EGLN3; the interaction prevents the formation of the BAX-BCL2 complex and inhibits the
anti-apoptotic activity of BCL2. Interacts with G0S2; this interaction also prevents the formation of the
anti-apoptotic BAX-BCL2 complex. Interacts with BOP
Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Nucleus membrane; Single-pass
membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein
6/9 PDB 3D structures from and Proteopedia for BCL2 (see all 9):
1G5M (3D)        1GJH (3D)        1YSW (3D)        2O21 (3D)        2O22 (3D)        2O2F (3D)    
Secondary accessions: P10416 Q13842 Q16197
Alternative splicing: 2 isoforms:  P10415-1   P10415-2   

Explore the universe of human proteins at neXtProt for BCL2: NX_P10415

Explore proteomics data for BCL2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation/dephosphorylation on Ser-70 regulates anti-apoptotic activity. Growth factor-stimulated
    phosphorylation on Ser-70 by PKC is required for the anti-apoptosis activity and occurs during the G2/M phase of
    the cell cycle. In the absence of growth factors, BCL2 appears to be phosphorylated by other protein kinases such
    as ERKs and stress-activated kinases. Phosphorylated by MAPK8/JNK1 at Thr-69, Ser-70 and Ser-87, wich stimulates
    starvation-induced autophagy. Dephosphorylated by protein phosphatase 2A (PP2A) (By similarity)
  • UniProtKB: Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has
    pro-apoptotic activity, causes the release of cytochrome c into the cytosol promoting further caspase activity
  • UniProtKB: Monoubiquitinated by PARK2, leading to increase its stability
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10415

  • BCL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCL2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000624.2  NP_000648.2  

    ENSEMBL proteins: 
     ENSP00000381185   ENSP00000329623   ENSP00000466417   ENSP00000404214  
    Reactome Protein details: P10415
    Human Recombinant Protein Products for BCL2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for BCL2 (Bcl-2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for BCL2
    OriGene Protein Over-expression Lysate for BCL2
    OriGene MassSpec for BCL2 
    OriGene Custom Protein Services for BCL2
    GenScript Custom Purified and Recombinant Proteins Services for BCL2
    Novus Biologicals BCL2 Proteins
    Sino Biological Recombinant Protein for BCL2
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for BCL2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA7546744
    GO:0005737cytoplasm IDA11530860
    GO:0005739mitochondrion IDA7896880
    GO:0005741mitochondrial outer membrane TAS--

    BCL2 for ontologies           About GeneDecksing



    BCL2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BCL2
    R&D Systems Antibodies for BCL2 (Bcl-2)
    Cell Signaling Technology (CST) Antibodies for BCL2  (Bcl-2)
    OriGene Antibodies for BCL2
    OriGene Custom Antibody Services for BCL2
    GenScript Superior Antibodies for BCL2
    Novus Biologicals BCL2 Antibodies
    Abcam antibodies for BCL2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for BCL2
    LSBio Antibodies in human, mouse, rat for BCL2 

    Assay Products for BCL2: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for BCL2 (Bcl-2)         (see all)
    GenScript Custom Assay Services for BCL2
    Cell Signaling Technology (CST) Sandwich ELISA Kits for BCL2 (Bcl-2)
    Enzo Life Sciences assays for BCL2
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    5/9 InterPro protein domains (see all 9):
     IPR020731 Bcl2_BH4_motif_CS
     IPR020728 Bcl2_BH3_motif_CS
     IPR003093 Bcl2_BH4
     IPR002475 Bcl2-like
     IPR026298 Blc2_fam

    Graphical View of Domain Structure for InterPro Entry P10415

    ProtoNet protein and cluster: P10415

    2 Blocks protein domains:
    IPB000712 Apoptosis regulator Bcl-2 protein
    IPB003093 Apoptosis regulator Bcl-2 protein


    UniProtKB/Swiss-Prot: BCL2_HUMAN, P10415
    Domain: The BH4 motif is required for anti-apoptotic activity and for interaction with RAF1 and EGLN3
    Similarity: Belongs to the Bcl-2 family


    BCL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCL2_HUMAN, P10415
    Function: Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and
    neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in
    a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c
    from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1)

         Genatlas biochemistry entry for BCL2:
    inner mitochondrial membrane protein,C elegans CED9 homolog,key regulator of apoptosis by inhibiting the release
    of cytochrome from the mitochondrial and by protecting a wide variety of cells including B cells and neuronal
    cells,activated by nerve growth factor,mediated by the p42/p44 MAPK cascade,inhibited by phosphorylation mediated
    by microtubule-damaging drugs through JNK- and cAMP-dependent protein kinases ; interacting with SMN1,also
    modulating CDK2 activation during thymocyte apoptosis,overexpressed in endometrial carcinoma

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IDA10620603
    GO:0005515protein binding IPI10837489
    GO:0008134transcription factor binding IEA--
    GO:0015267channel activity IDA9219694
    GO:0016248channel inhibitor activity IDA9219694
         
    BCL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCL2:
     Increased gamma-H2AX phosphory 

         15/21 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Bcl2) (see all 21):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 

    BCL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BCL2: Bcl2tm1Dlo Bcl2tm1Sjk Bcl2tm1Tsu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BCL2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BCL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCL2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCL2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCL2:
    hsa-mir-630 (MIRT005578), hsa-mir-34c-5p (MIRT003979), hsa-mir-16 (MIRT001800), hsa-let-7a (MIRT000418), hsa-mir-181d (MIRT003498), hsa-mir-29b (MIRT003290), hsa-mir-34b (MIRT000065), hsa-mir-181c (MIRT003499), hsa-mir-15b (MIRT000978), hsa-mir-20a (MIRT003011), hsa-mir-15a (MIRT000815), hsa-mir-451 (MIRT005744), hsa-mir-181a (MIRT003501), hsa-mir-204 (MIRT000192), hsa-mir-17 (MIRT003014), hsa-mir-29a (MIRT003291), hsa-mir-21 (MIRT000159), hsa-mir-29c (MIRT003289), hsa-mir-34a (MIRT002298), hsa-mir-195 (MIRT005362), hsa-mir-181b (MIRT003500), hsa-mir-192 (MIRT004844), hsa-mir-153 (MIRT000290)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCL2
    8/117 QIAGEN miScript miRNA Assays for microRNAs that regulate BCL2 (see all 117):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-1307 hsa-miR-15a hsa-miR-605 hsa-miR-632 hsa-miR-30d hsa-miR-550a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    EMD Millipore RNAi Products for the Analysis of BCL2 Gene knock-down
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCL2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BCL2
    Sirion Biotech Validated adenovirus to knockdown BCL2 in human, mouse 
                         Customized adenovirus for overexpression of BCL2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for BCL2 (see all 15)
    OriGene ORF clones in mouse, rat for BCL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BCL2 (NM_000633)
    Sino Biological Human cDNA Clone for BCL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL2
    Sirion Biotech Customized lentivirus for stable overexpression of BCL2 
                         Customized lentivirus expression plasmids for stable overexpression of BCL2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for BCL2
    Search LifeMap BioReagents cell lines for BCL2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BCL2 About   (see all 84)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1TWEAK Pathway
    Apoptosis and survival TNFR1 signaling pathway0.52
    Apoptotic Pathways Triggered By HIV10.42
    HIV-1 Nef- Negative effector of Fas and TNF-alpha0.46
    Apoptosis through Death Receptors0.42
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    FAS pathway and Stress induction of HSP regulation0.44
    3Development HGF signaling pathway
    Apoptosis and survival Role of CDK5 in neuronal death and survival0.37
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR10.35
    Neurotrophin signaling pathway0.36
    4Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    5IL-2 Signaling pathway
    IL2-mediated signaling events0.49
    IL-2 Signaling pathway0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/16 EMD Millipore Pathways for BCL2 (see all 16)
        Apoptosis and survival Role of CDK5 in neuronal death and survival
    Development EPO-induced Jak-STAT pathway
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
    Apoptosis and survival TNFR1 signaling pathway

    4 R&D Systems Pathways for BCL2
        IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Apoptosis Signaling Pathways
    IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Notch Signaling Pathways

    5/48 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BCL2 (see all 48)
        FLT3 Signaling
    14-3-3 Induced Apoptosis
    IL-4 Pathway
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for BCL2
        Apoptosis and Autophagy

    1 Tocris Bioscience Pathway for BCL2
        Apoptosis Pathway

    5/15 GeneGo (Thomson Reuters) Pathways for BCL2 (see all 15)
        Apoptosis and survival BAD phosphorylation
    Transcription P53 signaling pathway
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
    Apoptosis and survival FAS signaling cascades

    5/30 BioSystems Pathways for BCL2 (see all 30)
        Focal Adhesion
    Apoptosis
    Apoptosis Modulation and Signaling
    Senescence and Autophagy
    DNA damage response (only ATM dependent)

    2 Sino Biological Pathways for BCL2 
        p53 Pathway
    Death Receptor Signaling

    5/10        Reactome Pathways for BCL2 (see all 10)
        Activation of BH3-only proteins
    Activation of BAD and translocation to mitochondria
    The NLRP1 inflammasome
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways

    2 PharmGKB Pathways for BCL2
        Busulfan Pathway, Pharmacodynamics
    Vinka Alkaloid Pathway, Pharmacokinetics

    5/18         Kegg Pathways  (Kegg details for BCL2) (see all 18):
        NF-kappa B signaling pathway
    HIF-1 signaling pathway
    Protein processing in endoplasmic reticulum
    PI3K-Akt signaling pathway
    Apoptosis


    BCL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/163 Interacting proteins for BCL2 (P104151, 2, 3 ENSP000003296234) via UniProtKB, MINT, STRING, and/or I2D (see all 163)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53BP2Q136252, 3, ENSP000003419574MINT-7235804 MINT-7235946 MINT-7235823 MINT-7236118 MINT-7236027 MINT-7236079 MINT-7236102 MINT-7236042 MINT-7236003 MINT-7235965 MINT-7235839 MINT-7236061 MINT-7235784 I2D: score=4 STRING: ENSP00000341957
    AMBRA1Q9C0C72, 3, ENSP000003183134MINT-8182706 MINT-8182670 MINT-8182688 MINT-8182559 MINT-8182625 MINT-8174974 MINT-8182589 MINT-8182650 MINT-8182607 MINT-8182574 I2D: score=1 STRING: ENSP00000318313
    BECN1Q144571, 2, 3, ENSP000003552314EBI-77694,EBI-949378 MINT-8182780 MINT-4821014 MINT-4820784 MINT-8095220 MINT-8182706 MINT-7014531 MINT-7712827 MINT-8095201 I2D: score=4 STRING: ENSP00000355231
    HSPA1AP081073, ENSP000003648024I2D: score=3 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=3 
    About this table

    Gene Ontology (GO): 5/140 biological process terms (GO ID links to tree view) (see all 140):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IEA--
    GO:0000209protein polyubiquitination IDA16717086
    GO:0000902cell morphogenesis ----
    GO:0001101response to acid IEA--
    GO:0001503ossification IEA--

    BCL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BCL2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for BCL2

    Compounds for BCL2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AT 101Downregulates Bcl-2 and Mcl-1; pro-apoptotic[90141-22-3]
    HA14-1Bcl-2 inhibitor. Induces apoptosis[65673-63-4]
    MIM1Mcl-1 inhibitor; proapoptotic--
    Bax channel blockerInhibits Bax-mediated mitochondrial cytochrome c release[335165-68-9]
    Bax inhibitor peptide V5Inhibitor of Bax-mediated apoptosis[579492-81-2]

    4 DrugBank Compounds for BCL2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DocetaxelDocetaxel anhydrous (see all 4)114977-28-5target--15643508 15161985 15714982 15685445 17674353 15277270
    Paclitaxel7-epi-Paclitaxel (see all 8)33069-62-4targetinhibitor17119350 16741658 17062688 16895478 17230521
    Rasagiline-- 136236-51-6targetactivator12057839 14555244 16148027 12043833 12200198
    IbuprofenIbuprophen (see all 3)15687-27-1targetmodulator22668799

    10/126 Novoseek inferred chemical compound relationships for BCL2 gene (see all 126)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    genasense 81.3 45 16584297 (3), 16564596 (3), 11751483 (2), 12393493 (1) (see all 24)
    noxa 75.3 52 19372561 (3), 17018621 (3), 16673057 (2), 19540835 (2) (see all 34)
    dutp 75.2 39 9212738 (1), 11920781 (1), 12210368 (1), 14761612 (1) (see all 38)
    adpribose 71.7 49 12490780 (2), 11328292 (1), 11896536 (1), 18767861 (1) (see all 44)
    paclitaxel 71.3 393 9716607 (8), 9699642 (7), 19671798 (6), 10097113 (6) (see all 99)
    etoposide 68.8 137 10367743 (4), 8752171 (4), 9554589 (4), 8395979 (4) (see all 86)
    doxorubicin 66.8 175 8781438 (6), 12579337 (3), 18498876 (3), 19818735 (3) (see all 96)
    oridonin 66.3 15 17260801 (3), 15008459 (2), 15703811 (2), 16638644 (1) (see all 10)
    3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide 66.1 6 12144824 (1), 15033191 (1), 18471799 (1), 15749633 (1) (see all 6)
    paraffin 65.4 126 9343323 (4), 9521469 (1), 10652623 (1), 10491515 (1) (see all 99)

    Search CenterWatch for drugs/clinical trials and news about BCL2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for BCL2 gene (2 alternative transcripts): 
    NM_000633.2  NM_000657.2  

    Unigene Cluster for BCL2:

    B-cell CLL/lymphoma 2
    Hs.150749  [show with all ESTs]
    Unigene Representative Sequence: NM_000633
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398117(uc002liu.1) ENST00000333681(uc002lit.1) ENST00000590515
    ENST00000589955 ENST00000444484(uc002liv.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF401211.1 BC027258.1 EU287875.1 M13994.1 M13995.1 M14745.1 X06487.1 

    4 DOTS entries:

    DT.216205  DT.100749960  DT.86998979  DT.40316825 

    24/148 AceView cDNA sequences (see all 148):

    BF222234 BQ215366 BM463468 AI480094 BM996398 BQ440944 AI391699 AI261915 
    F04196 AI142026 W61100 AF401211 AU135900 BE503573 AA321638 BU195508 
    BM973833 AL703462 BU159596 CB118071 N42615 BG388287 BQ224622 BM986952 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for BCL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCL2 expression in normal human tissues (normalized intensities)      BCL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGGAGA
    BCL2 Expression
    About this image


    BCL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 5 entries
             Intermediate Keratinocytes Embryonic Epidermis
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             T Helper Cells Thymus
             CD19+ B Cells   
             reticulocytes   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Early Ameloblasts Dental Enamel
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Hair
             Basal Keratinocytes Embryonic Epidermis

    See BCL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCL2

    SOURCE GeneReport for Unigene cluster: Hs.150749

    UniProtKB/Swiss-Prot: BCL2_HUMAN, P10415
    Tissue specificity: Expressed in a variety of tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including BCL2 (see all 34): 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              Lymphoma in human mouse rat
              Inflammasomes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BCL2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl21 , 5 B cell leukemia/lymphoma 21, 5 88.98(n)1
    91.53(a)1
      1 (49.76 cM)5
    120431  NM_009741.31  NP_033871.21 
     1065381785 
    chicken
    (Gallus gallus)
    Aves BCL21 B-cell CLL/lymphoma 2 75.51(n)
    77.39(a)
      396282  NM_205339.1  NP_990670.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCL26
    --
    Uncharacterized protein
    Uncharacte...
    69(a)
    23(a)
    1 ↔ 1
    possible ortholog
    GL344304.1(26465-27025)
    GL343287.1(852-3936)
    zebrafish
    (Danio rerio)
    Actinopterygii BCL2 (1 of 2)6
    bcl26
    zgc:1539936
    (see first )
    B-cell CLL...
    B-cell leu...
    zgc:153993...
    (see first )
    46(a)
    46(a)
    16(a)
    (see first )
    1 ↔ many
    1 ↔ many
    possible ortholog
    (see first )
    2(12979720-13007658)
    24(29060361-29151442)
    7(54755948-54779600)


    ENSEMBL Gene Tree for BCL2 (if available)
    TreeFam Gene Tree for BCL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCL2 gene
    BAK12  BCL2L22  BCL2L12  
    4 SIMAP similar genes for BCL2 using alignment to 3 protein entries:     BCL2_HUMAN (see all proteins):
    bcl-2    BCL2L2-PABPN1    BCL2L2    BCL2L1

    BCL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4066 SNPs in BCL2 are shown (see all 4066)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0008284
    Non-Hodgkin lymphoma4--see VAR_0008282 P S mis40--------
    VAR_0008294
    Non-Hodgkin lymphoma4--see VAR_0008292 V I mis40--------
    VAR_0008274
    ----see VAR_0008272 T S mis40--------
    rs1883577131,2
    --57557443(+) TGGGGA/GGATGC 1 -- int10--------
    rs49405701,2
    C,F--57557629(+) ATTTCA/GGGATT 1 -- int13Minor allele frequency- G:0.26WA NA EA 358
    rs729394581,2
    C,F--57557709(+) GTGAGT/AGTGAA 1 -- int12Minor allele frequency- A:0.08NA EA 240
    rs1452288511,2
    --57557742(+) CTGTAC/TAGATG 1 -- int10--------
    rs1476544151,2
    --57557778(+) ATACTA/GCTGTT 1 -- int10--------
    rs1158571541,2
    C,F--57557864(+) TAGCTC/TGTTTG 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1926420051,2
    --57557871(+) TTTGCC/TGGCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for BCL2 (60790579 - 60987361 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for BCL2 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2086747CNV Deletion18987734
    esv2667157CNV Deletion23128226
    esv2717200CNV Deletion23290073
    esv2717199CNV Deletion23290073
    esv2571485CNV Deletion19546169
    esv1187842CNV Insertion17803354
    nsv2334CNV Insertion18451855
    esv1004886CNV Insertion20482838
    nsv131879CNV Insertion16902084
    esv1611780CNV Insertion17803354


    Human Gene Mutation Database (HGMD): BCL2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 151430    OMIM disorders: --

    UniProtKB/Swiss-Prot: BCL2_HUMAN, P10415
  • Note=A chromosomal aberration involving BCL2 has been found in chronic lymphatic leukemia. Translocation
    t(14;18)(q32;q21) with immunoglobulin gene regions. BCL2 mutations found in non-Hodgkin lymphomas carrying the
    chromosomal translocation could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide
    transitions

  • 20/342 diseases for BCL2 (see all 342):    About MalaCards
    follicular lymphoma    benign mammary dysplasia    lymphoma, small cleaved-cell, follicular    intravascular large b-cell lymphoma
    adenoid cystic carcinoma    pseudoangiomatous stromal hyperplasia    t-cell/histiocyte rich large b cell lymphoma    malignant teratoma
    cervical carcinosarcoma    keratinizing squamous cell carcinoma    lymphosarcoma    biphasic synovial sarcoma
    warthin tumor    natural killer cell leukemia    gemistocytic astrocytoma    benign metastasizing leiomyoma
    gastrointestinal lymphoma    extramedullary plasmacytoma    superficial basal cell carcinoma    esophagus adenocarcinoma

    6 diseases from the University of Copenhagen DISEASES database for BCL2:
    Lymphoma     Leukemia     Carcinoma     Breast cancer
    Lung cancer     Vascular disease

    BCL2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/93 Novoseek inferred disease relationships for BCL2 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma follicular 87.1 381 18945749 (7), 2223650 (5), 18925696 (5), 9349233 (4) (see all 99)
    tumors 83.8 3055 2214188 (7), 9002964 (7), 17295204 (6), 15667975 (6) (see all 99)
    lymphoma b-cell 82.4 319 18925696 (5), 20459572 (4), 8639245 (3), 9242549 (3) (see all 99)
    lymphoma 78.3 595 16373664 (5), 1890741 (5), 11431360 (5), 8371594 (5) (see all 99)
    cancer 77.8 713 9416483 (5), 11728179 (5), 9000560 (4), 16531274 (4) (see all 99)
    leukemia 74.3 316 18422996 (5), 10456672 (4), 10023011 (4), 20350424 (4) (see all 99)
    breast cancer 70.7 671 20068093 (5), 19762066 (5), 11235572 (5), 17288732 (5) (see all 99)
    necrosis 69.1 225 10064615 (4), 10464427 (3), 19331832 (3), 10754212 (2) (see all 99)
    lymphoma non-hodgkins 68.1 150 15503680 (3), 11380403 (3), 9113013 (3), 1747446 (2) (see all 99)
    lymphocytic leukemia chronic b-cell 67.8 31 8104532 (2), 9373241 (1), 17132110 (1), 8260892 (1) (see all 27)

    Genatlas disease: BCL2
    non Hodgkin follicular lymphoma of B-cell type,diffuse large B cell lymphoma,with translocation
    t(14;18)(q32;q21.3),also extranodal B cell lymphoma (low grade lymphoma of mucosa associated lymphoid
    tissue),with translocation t(11;18)(q21;q21) and a breakpoint on chromosome 18 between BCL2 and DCC

    Genetic Association Database (GAD): BCL2
    Human Genome Epidemiology (HuGE) Navigator: BCL2 (73 documents)
    Tumor Gene Database (TGDB): BCL2

    Export disorders for BCL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCL2 gene, integrated from 9 sources (see all 7217):
    (articles sorted by number of sources associating them with BCL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Germline BCL-2 sequence variants and inherited predisposition to prostate cancer. (PubMed id 16733517)1, 4, 9 Kidd L.R....Kittles R.A. (2006)
    2. Genetic variation in chromosomal translocation breakp oint and immune function genes and risk of non-Hodgkin lymphoma. (PubMed id 20087644)1, 4, 9 Fernberg P....EkstrAPm Smedby K. (2010)
    3. p21-activated Kinase 1 (Pak1)-dependent phosphorylation of Raf-1 regulates its mitochondrial localization, phosphorylation of BAD, and Bcl-2 association. (PubMed id 15849194)1, 2, 9 Jin S....Field J. (2005)
    4. Interaction between BCL2 and interleukin-10 gene polymorphisms alter outcomes of diffuse large B-cell lymphoma following rituximab plus CHOP chemotherapy. (PubMed id 19276283)1, 4, 9 Park Y.H....Kim D.H. (2009)
    5. The AA genotype of the regulatory BCL2 promoter polymorphism ( 938C>A) is associated with a favorable outcome in lymph node negative invasive breast cancer patients. (PubMed id 17908970)1, 4, 9 Bachmann H.S....Kimmig R. (2007)
    6. BCL-2 is phosphorylated and inactivated by an ASK1/Jun N-terminal protein kinase pathway normally activated at G(2)/M. (PubMed id 10567572)1, 2, 9 Yamamoto K.... Korsmeyer S.J. (1999)
    7. Association of a novel regulatory polymorphism (-938C>A) in the BCL2 gene promoter with disease progression and survival in chronic lymphocytic leukemia. (PubMed id 16960146)1, 4, 9 Nuckel H....Siffert W. (2007)
    8. Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot). (PubMed id 17534194)1, 4, 9 Ester A.R....Hecht J.T. (2007)
    9. Regulation of Bcl-2 family proteins, neurotrophic factors, and APP processing in the neurorescue activity of propargylamine. (PubMed id 16148027)1, 7, 9 Bar-Am O....Youdim M.B. (2005)
    10. Phosphorylation of Bcl2 and regulation of apoptosis. (PubMed id 11368354)1, 2, 9 Ruvolo P.P.... May W.S. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 596 HGNC: 990 AceView: BCL2 Ensembl:ENSG00000171791 euGenes: HUgn596
    ECgene: BCL2 Kegg: 596 H-InvDB: BCL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/bcl2/
    Wikipedia http://en.wikipedia.org/wiki/Bcl-2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCL2 gene:
    Search GeneIP for patents involving BCL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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