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Aliases for BCL2 Gene

Aliases for BCL2 Gene

  • BCL2, Apoptosis Regulator 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 50 2 3
  • B-Cell CLL/Lymphoma 2 2 3
  • Apoptosis Regulator Bcl-2 3
  • PPP1R50 3
  • Bcl-2 3

External Ids for BCL2 Gene

Previous GeneCards Identifiers for BCL2 Gene

  • GC18M060629
  • GC18M060763
  • GC18M058939
  • GC18M058941
  • GC18M057487

Summaries for BCL2 Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CIViC summary for BCL2 Gene

GeneCards Summary for BCL2 Gene

BCL2 (BCL2, Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BCL2 include High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement and Follicular Lymphoma 1. Among its related pathways are Focal Adhesion and Akt Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is BCL2L1.

UniProtKB/Swiss-Prot for BCL2 Gene

  • 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). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).

Tocris Summary for BCL2 Gene

  • Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.

Gene Wiki entry for BCL2 Gene

Additional gene information for BCL2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2 Gene

Genomics for BCL2 Gene

GeneHancer (GH) Regulatory Elements for BCL2 Gene

Promoters and enhancers for BCL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J063311 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656 +3.7 3737 10.6 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 ZNF2 IRF4 ZNF416 BCL2 KDSR GC18M063314
GH18J063205 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 25.8 +113.1 113101 3.9 ZNF687 JUNB STAT5A EBF1 MEF2B ATF2 CTBP1 POLR2A ZBTB12 RUNX3 ENSG00000283125 BCL2 VPS4B GC18P063159
GH18J063151 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +161.9 161910 13.1 HDGF ATF1 PKNOX1 CLOCK SMAD1 SIN3A FEZF1 ZBTB7B IRF4 YY1 GC18P063159 BCL2 VPS4B SERPINB12 PHLPP1 ENSG00000267766
GH18J063140 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.4 +177.8 177770 2.8 PKNOX1 STAT5A BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 BCL2 VPS4B GC18P063133 ENSG00000267766
GH18J063137 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +181.3 181266 2.7 PKNOX1 SMAD1 ZBTB40 IRF4 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 BCL2 ZCCHC2 SERPINB12 VPS4B GC18P063133 ENSG00000267766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCL2 gene promoter:

Genomic Locations for BCL2 Gene

Genomic Locations for BCL2 Gene
chr18:63,123,346-63,320,128
(GRCh38/hg38)
Size:
196,783 bases
Orientation:
Minus strand
chr18:60,790,579-60,987,361
(GRCh37/hg19)

Genomic View for BCL2 Gene

Genes around BCL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2 Gene

Proteins for BCL2 Gene

  • Protein details for BCL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10415-BCL2_HUMAN
    Recommended name:
    Apoptosis regulator Bcl-2
    Protein Accession:
    P10415
    Secondary Accessions:
    • C9JHD5
    • P10416
    • Q13842
    • Q16197

    Protein attributes for BCL2 Gene

    Size:
    239 amino acids
    Molecular mass:
    26266 Da
    Quaternary structure:
    • 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 (PubMed:8183370). 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 RTL10/BOP. Interacts with the SCF(FBXO10) complex. Interacts (via the loop between motifs BH4 and BH3) with NLRP1 (via LRR repeats), but not with NLRP2, NLRP3, NLRP4, PYCARD, nor MEFV (PubMed:17418785).

    Three dimensional structures from OCA and Proteopedia for BCL2 Gene

    Alternative splice isoforms for BCL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2 Gene

Post-translational modifications for BCL2 Gene

  • 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).
  • 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.
  • Monoubiquitinated by PRKN, leading to increase its stability. Ubiquitinated by SCF(FBXO10), leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL2 Gene

Antibody Products

No data available for DME Specific Peptides for BCL2 Gene

Domains & Families for BCL2 Gene

Gene Families for BCL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for BCL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10415

UniProtKB/Swiss-Prot:

BCL2_HUMAN :
  • BH1 and BH2 domains are required for the interaction with BAX and for anti-apoptotic activity.
  • Belongs to the Bcl-2 family.
Domain:
  • BH1 and BH2 domains are required for the interaction with BAX and for anti-apoptotic activity.
  • The BH4 motif is required for anti-apoptotic activity and for interaction with RAF1 and EGLN3.
  • The loop between motifs BH4 and BH3 is required for the interaction with NLRP1.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2: view

Function for BCL2 Gene

Molecular function for BCL2 Gene

UniProtKB/Swiss-Prot 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). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for BCL2 Gene

Gene Ontology (GO) - Molecular Function for BCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IDA 10620603
GO:0005515 protein binding IPI 7954800
GO:0008134 transcription factor binding IEA --
GO:0015267 channel activity IDA 9219694
GO:0016248 channel inhibitor activity IDA 9219694
genes like me logo Genes that share ontologies with BCL2: view
genes like me logo Genes that share phenotypes with BCL2: view

Human Phenotype Ontology for BCL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCL2 Gene

MGI Knock Outs for BCL2:

Animal Model Products

miRNA for BCL2 Gene

miRTarBase miRNAs that target BCL2

Clone Products

  • Addgene plasmids for BCL2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BCL2 Gene

Localization for BCL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2 Gene

Mitochondrion outer membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 7546744
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 7546744
GO:0005739 mitochondrion IEA,IDA 7896880
genes like me logo Genes that share ontologies with BCL2: view

Pathways & Interactions for BCL2 Gene

genes like me logo Genes that share pathways with BCL2: view

Pathways by source for BCL2 Gene

SIGNOR curated interactions for BCL2 Gene

Gene Ontology (GO) - Biological Process for BCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 16717086
GO:0000902 cell morphogenesis IEA --
GO:0001503 ossification IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001656 metanephros development IEA --
genes like me logo Genes that share ontologies with BCL2: view

Drugs & Compounds for BCL2 Gene

(132) Drugs for BCL2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Paclitaxel Approved, Vet_approved Pharma inhibitor, Biomarker, binder, Target Tubulin and Bcl2 inhibitor, Taxanes 3027
Docetaxel Approved, Investigational Pharma Inhibition, inhibitor, Biomarker, Target Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
ABT-199 Approved, Investigational Pharma Target, inhibitor Bcl-2 inhibitor,potent and selective 0
AT-101 Approved, Investigational Pharma inhibitor, Target BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors 62
Carboplatin Approved Pharma Biomarker Antitumor agent that forms platinum-DNA adducts., Platinum 2141

(53) Additional Compounds for BCL2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AT 101
90141-22-3
SMBA 1
906440-37-7

(4) Tocris Compounds for BCL2 Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic 90141-22-3
BAM 7 Selective Bax activator; induces Bax-mediated apoptosis 331244-89-4
SMBA 1 High affinity and selective activator of Bax 906440-37-7
TW 37 Bcl-2 inhibitor; induces apoptosis 877877-35-5

(24) ApexBio Compounds for BCL2 Gene

Compound Action Cas Number
(+)-Apogossypol 66389-74-0
ABT-199 Bcl-2 inhibitor,potent and selective 1257044-40-8
ABT-263 (Navitoclax) Potent Bcl-2 family inhibitor, inhibits Bcl-2, Bcl-xL, and Bcl-w 923564-51-6
ABT-737 Bcl-2 inhibitor 852808-04-9
Apogossypolone (ApoG2) Bcl-2 inhibitor,nonpeptidic small molecule 886578-07-0
AT-101 BH3-mimetic,gossypol enantiomer 90141-22-3
Bax inhibitor peptide P5 Bax inhibitor 579492-83-4
Bax inhibitor peptide V5 Bax inhibitor 579492-81-2
Bcl Family Set I Bcl family inhibitors
BDA-366 Selective antagonist of BCL2 BH4 domain
BIM, Biotinylated
BM-1074 Bcl-2/Bcl-xL inhibitor,potent and selective 1391108-10-3
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
HA14-1 Bcl-2 inhibitor,potent and cell-permeable 65673-63-4
iMAC2 MAC inhibitor 335166-36-4
Lomustine Antineoplastic drug 13010-47-4
Mcl1-IN-1 Myeloid cell factor 1 inhibitor 713492-66-1
Mitomycin C Inhibits DNA synthesis,antibiotic and antitumor agent 1950-07-7
Muristerone A TRAIL- and hFasL-induced apoptosis inhibitor 38778-30-2
Obatoclax mesylate (GX15-070) Potent Bcl-2 inhibitor 803712-79-0
Pyridoclax
Radotinib(IY-5511) Bcl-Abl tyrosine kinase inhibitor 926037-48-1
Sabutoclax pan-Bcl-2 inhibitor 1228108-65-3
TW-37 Bcl-2 inhibitor, inhibits Bcl-2,Bcl-XL and Mcl-1 877877-35-5
genes like me logo Genes that share compounds with BCL2: view

Drug Products

Transcripts for BCL2 Gene

mRNA/cDNA for BCL2 Gene

Unigene Clusters for BCL2 Gene

B-cell CLL/lymphoma 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for BCL2

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

ExUns: 1a · 1b ^ 2 ^ 3
SP1:
SP2:

Relevant External Links for BCL2 Gene

GeneLoc Exon Structure for
BCL2
ECgene alternative splicing isoforms for
BCL2

Expression for BCL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCL2 Gene

This gene is overexpressed in Tlymphocyte (10.5), CD8 Tcells (7.9), NK cells (6.4), and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL2 Gene



Protein tissue co-expression partners for BCL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCL2 Gene:

BCL2

SOURCE GeneReport for Unigene cluster for BCL2 Gene:

Hs.150749

mRNA Expression by UniProt/SwissProt for BCL2 Gene:

P10415-BCL2_HUMAN
Tissue specificity: Expressed in a variety of tissues.

Evidence on tissue expression from TISSUES for BCL2 Gene

  • Kidney(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • spleen
General:
  • blood
  • lymph node
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with BCL2: view

No data available for mRNA differential expression in normal tissues for BCL2 Gene

Orthologs for BCL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL2 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCL2 34 33
  • 90.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2 34 33
  • 90.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2 16 34 33
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Bcl2 33
  • 87.85 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL2 34 33
  • 74.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2 33
  • 62.9 (n)
zebrafish
(Danio rerio)
Actinopterygii BCL2 (2 of 2) 34
  • 50 (a)
OneToMany
bcl2 34
  • 47 (a)
OneToMany
Species where no ortholog for BCL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL2 Gene

ENSEMBL:
Gene Tree for BCL2 (if available)
TreeFam:
Gene Tree for BCL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2: view image

Paralogs for BCL2 Gene

Paralogs for BCL2 Gene

(4) SIMAP similar genes for BCL2 Gene using alignment to 3 proteins:

  • BCL2_HUMAN
  • A0N771_HUMAN
  • C9JHD5_HUMAN
genes like me logo Genes that share paralogs with BCL2: view

Variants for BCL2 Gene

Sequence variations from dbSNP and Humsavar for BCL2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
VAR_000828 Non-Hodgkin lymphoma p.Pro59Ser
VAR_000829 Non-Hodgkin lymphoma p.Val93Ile
rs1000023499 -- 63,156,103(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000050149 -- 63,307,167(-) TTT/T genic_downstream_transcript_variant, intron_variant
rs1000050989 -- 63,265,988(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BCL2 Gene

Variant ID Type Subtype PubMed ID
dgv1910e59 CNV duplication 20981092
dgv3376n100 CNV loss 25217958
dgv993e212 CNV loss 25503493
esv1004886 CNV insertion 20482838
esv1187842 CNV insertion 17803354
esv1611780 CNV insertion 17803354
esv2086747 CNV deletion 18987734
esv2571485 CNV deletion 19546169
esv2667157 CNV deletion 23128226
esv2717199 CNV deletion 23290073
esv2717200 CNV deletion 23290073
esv2855236 CNV duplication 24192839
esv3323681 CNV duplication 20981092
esv3351150 CNV duplication 20981092
esv3394873 CNV insertion 20981092
esv3414068 CNV duplication 20981092
esv3435667 CNV insertion 20981092
esv3555508 CNV deletion 23714750
esv3555510 CNV deletion 23714750
esv3584945 CNV gain 24956385
esv3642764 CNV loss 21293372
esv6445 CNV gain 19470904
nsv1066552 CNV gain 25217958
nsv1123185 CNV deletion 24896259
nsv1138634 CNV deletion 24896259
nsv1141916 CNV deletion 24896259
nsv1160528 CNV deletion 26073780
nsv131879 CNV insertion 16902084
nsv2334 CNV insertion 18451855
nsv473827 CNV novel sequence insertion 20440878
nsv577096 CNV loss 21841781

Variation tolerance for BCL2 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2 Gene

Human Gene Mutation Database (HGMD)
BCL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2 Gene

Disorders for BCL2 Gene

MalaCards: The human disease database

(62) MalaCards diseases for BCL2 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement
follicular lymphoma 1
  • follicular lymphoma, susceptibility to, 1
lymphoma
  • lymphoid cancer
intravascular large b-cell lymphoma
  • angioendotheliomatosis proliferans systemisata
benign mammary dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search BCL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCL2_HUMAN
  • 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. {ECO:0000269 PubMed:2875799, ECO:0000269 PubMed:3285301}.

Genatlas disease for BCL2 Gene

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

Additional Disease Information for BCL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL2: view

Publications for BCL2 Gene

  1. Interaction between BCL2 and interleukin-10 gene polymorphisms alter outcomes of diffuse large B-cell lymphoma following rituximab plus CHOP chemotherapy. (PMID: 19276283) Park YH … Kim DH (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 44 58
  2. BCL-2 is phosphorylated and inactivated by an ASK1/Jun N-terminal protein kinase pathway normally activated at G(2)/M. (PMID: 10567572) Yamamoto K … Korsmeyer SJ (Molecular and cellular biology 1999) 3 4 22 58
  3. Related F-box proteins control cell death in Caenorhabditis elegans and human lymphoma. (PMID: 23431138) Chiorazzi M … Staudt LM (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for BCL2 Gene

  • Addgene plasmids for BCL2