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BCL2 Gene

protein-coding GC18M058941

B-cell CLL/lymphoma 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
 
Gene
Antibodies / RNAi / Pathways
Services    
Antibodies / Pathways
Proteins & Enzymes
Assays/Kits / cDNA / RNAi
 
(According to 1HGNC, 2Entrez Gene,
3UniProt/Swiss-Prot, 4UniProt/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl)
About This Section

Aliases
Bcl-2 1, 2
OTTHUMP00000163680 2
Descriptions
B-cell CLL/lymphoma 2 1, 2
B-cell lymphoma protein 2 2
External Ids
HGNC: 9901
Entrez Gene: 5962
UniProt: P104153
Ensembl: ENSG000001717917
Search outside databases for aliases for BCL2 gene

Previous GC identifers: GC18M060629 GC18M060763 GC18M058939

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

EntrezGene summary for BCL2: 
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.

UniProt/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)

Gene Wiki entry for BCL2 (Bcl-2) 

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views According to UCSC and Ensembl)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.33|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)

GeneLoc gene densities for chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M058941:     (about GC identifiers)

Start:
58,941,559 bp from pter
End:
59,138,341 bp from pter
Size:
196,783 bases
Orientation:
minus strand
RefSeq genomic assemblies:
NC_000018.8  NT_025028.13  
(According to 1UniProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, BioMol, Abnova, and/or Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, and/or BioMol, Ontologies according to Gene Ontology Consortium 01 Jul 2008 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or GeneTex)
About This Section

UniProt/Swiss-Prot: BCL2_HUMAN, P10415 (See protein sequence)
Recommended Name: Apoptosis regulator Bcl-2  
Size: 239 amino acids
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). Also interacts with APAF1, RAF-1, TP53BP2, BBC3, BCL2L1, MRPL41 and BNIPL. Binding to
FKBP8 seems to target BCL2 to the mitochondria and probably interferes with the binding of BCL2 to
its targets
Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Nucleus membrane;
Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein
PDB structures from and Proteopedia : 
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   

Post-translational modifications:

  • 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.
    Dephosphorylated by protein phosphatase 2A (PP2A) (By similarity)1
  • 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 activity1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000624.2  NP_000648.2  


    ENSEMBL proteins: 
    ENSP00000381185 ENSP00000329623 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    R&D Systems Recombinant & Natural Proteins for BCL2 (Bcl-2)
    Browse over 400 recombinant and purified proteins available from BIOMOL
    Recombinant Proteins from Abcam (Bcl2 alpha, Bcl2)
    Human Recombinant Proteins from Abnova (BCL2

    5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IDA11530860
    GO:0005739 mitochondrion IDA9027314
    GO:0005741 mitochondrial outer membrane TAS1453000
    GO:0005783 endoplasmic reticulum IEA--
    About this table

    Antibodies for BCL2: 
    Invitrogen Antibodies for BCL2
    Millipore Mono- and Polyclonal Antibodies for the study of BCL2
    Sigma-Aldrich Antibodies for BCL2
    R&D Systems Antibodies for BCL2 (Bcl-2)
    Cell Signaling Technology (CST) Antibodies & Assays for BCL2 (Bcl-2)
    Antibodies from Abcam (Bcl2 alpha, Bcl2), each with their AbpromiseSM
    GeneTex Antibodies for BCL2 (10 antibodies available)
    Monoclonal and Polyclonal Antibodies from Abnova (BCL2

    Assays for BCL2: 
    Invitrogen Assays for BCL2
    Millipore Kits and Assays for the Analysis of BCL2
    R&D Systems ELISA/Assay Development Kits & Reagents for BCL2 (Bcl-2)         (see all)
    Browse biochemical assays available from BIOMOL

    (According to InterPro, ProtoNet, UniProt, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5 InterPro domains/families:
     IPR000712 Bcl2_BH
     IPR003093 Bcl2_BH4
     IPR013278 Apop_reg_Bcl2
     IPR002475 BCL2_apoptsis
     IPR004725 Bcl2_reg


    the gene BCL2 for the domains selected above.
    About GeneDecksing

     

    Graphical View of Domain Structure for InterPro Entry P10415

    ProtoNet protein and cluster: P10415

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


    UniProt/Swiss-Prot: BCL2_HUMAN, P10415
    Domain: The BH4 motif is required for anti-apoptotic activity and for interaction with RAF-1
    Similarity: Belongs to the Bcl-2 family

    (According to MGI Aug 01 2008, UniProt, IUBMB,and/or Genatlas, RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, and/or Abnova, siRNAs from Applied Biosystems, Cell-based Assays from Millipore and DiscoveRx, Ontologies according to Gene Ontology Consortium 01 Jul 2008 via Entrez Gene.)
    About This Section

    RNAi:Invitrogen RNAi Products for gene knock-down (BCL2)
    Millipore RNAi Products for the Analysis of BCL2 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BCL2

    Clones:Invitrogen Clones for BCL2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore

    Primers: Invitrogen Q-PCR LUX™ Primers for BCL2

    siRNA: Applied Biosystems Silencer® siRNAs for BCL2


    UniProt/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)

    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

    15/20 MGI mutant phenotypes (inferred from 5 alleles ) for Bcl2 (see all 20):

    cardiovascular systemcraniofacialdigestive/alimentaryendocrine/exocrine glandgrowth/size
    hearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatal
    life span-post-weaning/agingmusclenervous systempigmentationrenal/urinary system

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0002020 protease binding IDA10620603
    GO:0005515 protein binding ----
    GO:0042803 protein homodimerization activity IDA9111042
    GO:0046982 protein heterodimerization activity IPI9111042
    GO:0051434 BH3 domain binding IPI9111042
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, KEGG and/or UniProt,
    Pathway activation and profiling Assays by DiscoveRx, Sets of similar genes according to GeneDecks, Interactions according to 1UniProt, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Jul 2008 via Entrez Gene.)
    About This Section

    5/11 Invitrogen iPath™ Online BioAtlas - Pathways for BCL2 (see all 11) (Maps provided by GeneGo):
     Regulation of apoptosis by mitochondrial proteins
     Cytoplasm/mitochondrial transport of proapoptotic proteins Bad and Bax
     IL4 - antiapoptotic action
     Erk Interactions: Activation and selected Erk targets
     Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    the gene BCL2 for the pathways selected above.
    About GeneDecksing

     

    2 Cell Signaling Technology (CST) Pathways for BCL2: 
     Death Receptor Signaling
     Mitochondrial Control of Apoptosis

    the gene BCL2 for the pathways selected above.
    About GeneDecksing

     

    5/8 Kegg cellular component terms (links to tree view) Pathways for BCL2 (see all 8):
     hsa01510 Neurodegenerative Diseases
     hsa04210 Apoptosis
     hsa04510 Focal adhesion
     hsa05030 Amyotrophic lateral sclerosis (ALS)
     hsa05060 Prion disease

    the gene BCL2 for the pathways selected above.
    About GeneDecksing

     

    5/36 Gene Ontology (GO) biological process terms (links to tree view) (see all 36):

    GO IDQualified GO term EvidencePubMed IDs
    GO:0001666 response to hypoxia IEA--
    GO:0001836 release of cytochrome c from mitochondria NAS9027314
    GO:0006915 apoptosis ----
    GO:0006916 anti-apoptosis IDA9027314 10506221 10620603 11684014
    GO:0006959 humoral immune response TAS1908951
    About this table

    5/29 Interacting proteins for BCL2 (P104151, 2) via UniProt, MINT, and/or STRING  (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104151EBI-77694, EBI-77694
    FKBP8Q143182MINT-56638 MINT-56636 MINT-56637
    MAPK14Q165392MINT-17661 MINT-17662 MINT-17663
    PSEN1P497682MINT-16126 MINT-16125 MINT-16124
    RTN4Q9NQC32MINT-15910 MINT-15911 MINT-15909
    About this table
    (Chemical Compounds according to BioMol, Tocris Bioscience, and/or AKS and Drugs according to BioMol and/or PharmGKB)
    About This Section

    Drugs & compounds for BCL2 protein from BIOMOL

    Compounds and pharmacological data for BCL2 available from Tocris Bioscience 
    CompoundAction CAS number
    2,3-DCPE hydrochlorideSelectively induces cancer cell apoptosis[418788-90-6]
    GossypolPro-apoptotic; downregulates Bcl-2 and Bcl-XL[303-45-7]
    HA14-1Bcl-2 inhibitor. Induces apoptosis[65673-63-4]
    About this table


    10/25 almaKnowledgeServer chemical compound relationships for BCL2 gene (see all 25)
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    genasense 81.84 42 16584297 (3), 16564596 (3), 11751483 (2), 12393493 (1) (see all 22)
    dutp 75.29 32 9212738 (1), 11920781 (1), 12210368 (1), 14761612 (1) (see all 32)
    noxa 72.07 36 17018621 (3), 16673057 (2), 16782027 (2), 17525724 (2) (see all 23)
    oridonin 64.89 15 17260801 (3), 15008459 (2), 15703811 (2), 16638644 (1) (see all 10)
    ptpc 63.35 7 11212328 (1), 10645010 (1), 10739647 (1), 12022943 (1) (see all 7)
    ceramide 62.20 129 8643573 (5), 16297852 (5), 9841888 (5), 10400650 (5) (see all 60)
    ethyl 2-amino-6-bromo-4-(1-cyano-2-ethoxy-2-oxoethyl)-4h-chromene-3-carb oxylate 61.82 2 14966123 (1), 16510597 (1)
    3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide 61.15 4 12144824 (1), 15033191 (1), 15749633 (1), 16243419 (1)
    progesterone 58.47 285 17785366 (5), 8989276 (4), 9306964 (4), 8685038 (4) (see all 99)
    sp 600125 58.45 7 16167336 (1), 16420771 (1), 16149076 (1), 15184882 (1) (see all 6)
    About this table

    2 PharmGKB drug compound relationships for BCL2 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    cyclosporin aFA  12086014
    flavopiridolFA  12170773
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 214 Homo sapiens; Jun 23 2008) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems,
    Clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    RNAi:Invitrogen RNAi Products for gene knock-down (BCL2)
    Millipore RNAi Products for the Analysis of BCL2 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (BCL2

    REFSEQ mRNAs for BCL2 gene (2 alternative transcripts): 

    NM_000633.2  NM_000657.2  

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000633  NM_000657  

    Applied Biosystems Silencer® siRNAs: 

    NM_000633  NM_000657  

    3 OriGene Full-length cDNA clones and unique splice variants in a CMV expression vector:

    BC027258 NM_000633 NM_000657

    Additional cDNA 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):

    AI391699 W61100 AA321638 AW241434 N29770 F07940 AI142026 AI261915 
    BU195508 BM973833 BM986952 F04196 BG503428 N42615 BE550816 BQ440944 
    AI627828 BE503573 AU135900 AF401211 BM463468 BG388287 BQ215366 BM996398 

    highest scoring ESTs for BCL2:

    AW364524 AW468867 BC027258 BE675587 BE832371 BE935192 BF516456 BQ054417 BQ055296 BQ055950 

    Unigene Cluster for BCL2:

    B-cell CLL/lymphoma 2
    Hs.150749  [show with all ESTs]
    Unigene Representative Sequence: NM_000633


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for BCL2

    2 Ensembl transcripts including schematic representations:
    ENST00000398117  ENST00000333681  
    (Experimental results according to 1GeneNote and GNF SymAtlas,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 214 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProt,
    Expression Assays from Applied Biosystems )
    About This Section

    BCL2 expression in normal and cancerous human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for BCL2

    Expression according to 1 / 2 / 3

    13 probe-sets matching BCL2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    2060_at2, 3 U95-A 1 1.00 1.00 0.40 0.89 M13995 0.60 1.00 0.82 1

    1847_s_at2, 3 U95-A 1 1.00 1.00 0.62 0.64 M13994 0.80 1.00 0.91 1

    1910_s_at2, 3 U95-A 1 1.00 1.00 0.28 1.11 M14745 0.60 1.00 0.82 1
    1909_at2, 3 U95-A 1 1.00 1.00 0.63 1.29 M14745 0.60 1.00 0.82 1
    2038_g_at2, 3 U95-A 1 1.00 1.00 0.58 1.11 M13995 0.60 1.00 0.82 1

    203685_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000633 0.60 1.00 0.82 1

    207005_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000657 0.60 1.00 0.82 1

    207004_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000657 0.60 1.00 0.82 1

    203684_s_at2, 3 U133-A 1 1.00 1.00 -- -- M13994 0.80 1.00 0.91 1

    203685_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207005_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207004_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    203684_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    the gene BCL2 for binary patterns associated with the probe-sets selected above.
    About this table    About GeneDecksing
    Gene Expression data from (See relevant publications) and GNF SymAtlas        About these images 
    About these images

    CGAP SAGE TAG: TGTGTGGAGA
    GNF BioGPS gene expression/activity chart for BCL2 

    SOURCE GeneReport for Unigene cluster: Hs.150749

    Expression variation in blood from EXPOLDB for BCL2

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

    (Orthologs according to 1HomoloGene, 2euGenes, 3SGD and/or 4MGI Aug 01 2008, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for BCL2 gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BCL21   -- B-cell CLL/lymphoma 2 90.79(n)
    89.54(a)
    403416  NM_001002949.1  NP_001002949.1 
    chimpanzee
    (Pan troglodytes)
    BCL21   -- B-cell CLL/lymphoma 2 100(n)
    100(a)
    738409  XM_001145537.1  XP_001145537.1 
    cow
    (Bos taurus)
    BCL21   -- B-cell CLL/lymphoma 2 91.56(n)
    94.76(a)
    281020  XM_586976.3  XP_586976.3 
    rat
    (Rattus norvegicus)
    Bcl21   -- B-cell leukemia/lymphoma 2 88.56(n)
    89.41(a)
    24224  NM_016993.1  NP_058689.1 
    mouse
    (Mus musculus)
    Bcl21, 4 1 (59.80 cM)4
    B-cell leukemia/lymphoma 21, 4 88.98(n)1
    91.53(a)1
    120431  NM_009741.31  NP_033871.21 
     AA3874784  AA8672144  (see all 20)
    About this table        Species with no ortholog

    ENSEMBL Gene Tree for BCL2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for BCL2 gene
    BCL2L7P12  BCL2A12  BCL2L22  MCL12  BCL2L12  BOK2  BAX2  BCL2L102  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProt, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/938 NCBI SNPs in BCL2 are shown (see all 938)
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 465)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 18 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs15644831,2
    A,C,F,H,O58945634(-) GCCACA/GACCCT 1 -- 1 ese319Minor allele frequency- N:0.00MN EU EA WA NS NA 3048
    --
    rs24487991,2
    A,C,F,H58940466(-) GCTTGA/TAATTG 1 -- 14Minor allele frequency- T:0.04EU EA WA 372
    rs49878531,2
    A,C,F,H58944635(-) ATGGCA/GAATGA 1 -- 126Minor allele frequency- G:0.18NS EU EA WA NA 2654
    rs10168601,2
    A,C,F,H58946054(-) CTTAAA/GCCCTG 1 -- 116Minor allele frequency- T:0.00NA MN EU EA WA NS 1658
    rs18938061,2
    A,C,F,H59135944(-) AGCTTG/TTTGGA 2 -- 1 int116Minor allele frequency- A:0.01EA NA MN EU WA NS 1594
    rs49878611,2
    C,F,H58943544(-) GAAAAC/TTCTGG 1 -- 1 ese314Minor allele frequency- T:0.02NS EU EA WA NA 1394
    rs49878521,2
    C,F,H58944901(-) TTCTGA/GGAAGG 1 -- 1 ese316Minor allele frequency- G:0.02NS EU EA WA NA 1560
    rs14734181,2
    C,F,H59137529(-) TCCCCC/GCGACT 2 -- 1 ese39Minor allele frequency- G:0.26NA EA MN EU WA NS 1026
    rs49878551,2
    C,F,H58944529(-) TCCGCG/AGGGGC 1 -- 1 ese312Minor allele frequency- A:0.03NS EU EA WA NA 1120
    --
    rs49878721,2
    C,F,H58940978(-) CATACT/CACCTT 1 -- 19Minor allele frequency- C:0.11NS EU EA WA 978
    About this table

    HapMap Linkage Disequilibrium images for BCL2

    (in which this Gene is Involved, According to OMIM, UniProt, AKS, PharmGKB, Genatlas, GeneTests, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 151430
    search databases for these OMIM-named disorders:
    Leukemia/lymphoma, B-cell, 2   


    UniProt/Swiss-Prot: BCL2_HUMAN, P10415
  • A chromosomal aberration involving BCL2 may be a cause of follicular lymphoma (FL)
    [MIM:151430]; also known as type II 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
  • 10/92 almaKnowledgeServer disease relationships for BCL2 gene (see all 92)

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma follicular 88.00 317 2223650 (5), 9349233 (4), 8623759 (4), 8252486 (4) (see all 99)
    tumors 82.79 2688 2214188 (7), 9002964 (7), 17295204 (6), 15667975 (6) (see all 99)
    lymphoma b-cell 81.54 228 8639245 (3), 8106752 (3), 1951637 (3), 17404107 (3) (see all 99)
    lymphoma 78.06 533 16373664 (5), 1890741 (5), 11431360 (5), 9758366 (5) (see all 99)
    cancer 75.37 598 9416483 (5), 11728179 (5), 9000560 (4), 16531274 (4) (see all 99)
    leukemia 71.68 257 18422996 (5), 10456672 (4), 10023011 (4), 14689061 (3) (see all 99)
    lymphoma non-hodgkins 69.18 144 15503680 (3), 11380403 (3), 9113013 (3), 1747446 (2) (see all 99)
    breast cancer 68.68 573 11235572 (5), 17626754 (5), 17288732 (5), 17352236 (4) (see all 99)
    lymphocytic leukemia chronic b-cell 68.46 29 8104532 (2), 9373241 (1), 17132110 (1), 8260892 (1) (see all 26)
    necrosis 68.31 198 10064615 (4), 10464427 (3), 10754212 (2), 14646554 (2) (see all 99)
    About this table

    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

    Human Gene Mutation Database: BCL2

    Genetic Association Database: BCL2

    Human Genome Epidemiology Navigator: BCL2 (20 documents)

    Tumor Gene Database: BCL2

    Breast Cancer Gene Database: BCL2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1AKS, 2HGNC, 3Entrez Gene, 4UniProt/Swiss-Prot, 5UniProt/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/677 PubMed articles for BCL2 gene (see all 677):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 596 HGNC: 990 AceView: BCL2 Ensembl:ENSG00000171791 euGenes: HUgn596
    ECgene: BCL2 H-InvDB: BCL2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProt/Swiss-Prot, and/or UniProt/TrEMBL,
    Wikipedia and/or GeneReviews via UniProt/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for BCL2 Genetics and Cytogenetics in Oncology and Haematology
    http://en.wikipedia.org/wiki/Bcl-2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, GeneTex,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Assay development and profiling from DiscoveRx, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by BioMol and/or Tocris Bioscience)
    About This Section



    Products for BCL2:
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