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Aliases for BCL2 Gene

Aliases for BCL2 Gene

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

External Ids for BCL2 Gene

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. 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 benign mammary dysplasia and salivary gland adenoid cystic carcinoma. Among its related pathways are PI3K-Akt signaling pathway and TGF-Beta Pathway. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is BAK1.

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).

Tocris 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 Gene

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

Genomics for BCL2 Gene

Genomic Location for BCL2 Gene

Start:
63,123,346 bp from pter
End:
63,320,128 bp from pter
Size:
196,783 bases
Orientation:
Minus strand

Genomic View for BCL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 (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. Interacts with the SCF(FBXO10) complex.

    Three dimensional structures from OCA and Proteopedia for BCL2 Gene

    Alternative splice isoforms for BCL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2 Gene

Proteomics data for BCL2 Gene at MOPED

Post-translational modifications for BCL2 Gene

  • Monoubiquitinated by PARK2, leading to increase its stability. Ubiquitinated by SCF(FBXO10), leading to its degradation by the proteasome.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BCL2 Gene

Domains for BCL2 Gene

Gene Families for BCL2 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

UniProtKB/Swiss-Prot:

BCL2_HUMAN
Domain:
  • The BH4 motif is required for anti-apoptotic activity and for interaction with RAF1 and EGLN3:
    • P10415
Family:
  • Belongs to the Bcl-2 family.:
    • P10415
genes like me logo Genes that share domains with BCL2: view

Function for BCL2 Gene

Molecular function for BCL2 Gene

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
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).

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 10837489
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

Animal Models for BCL2 Gene

MGI Knock Outs for BCL2:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for BCL2 Gene COMPARTMENTS Subcellular localization image for BCL2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 2
plasma membrane 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 7546744
GO:0005737 cytoplasm IDA 11530860
GO:0005739 mitochondrion IDA 7896880
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with BCL2: view

Pathways for BCL2 Gene

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

Pathways by source 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 --
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

Compounds for BCL2 Gene

(19) ApexBio Compounds for BCL2 Gene

Compound Action Cas Number
2,3-DCPE hydrochloride Selectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro. [418788-90-6]
ABT-199 Selective Bcl-2 inhibitor [1257044-40-8]
ABT-263 (Navitoclax) orally sellecitive inhibitor of Bcl-2 family proteins [923564-51-6]
ABT-737 novel and potent inhibitor of BCL-2 family proteins [852808-04-9]
Apogossypolone (ApoG2) pan Bcl-2 inhibitor [886578-07-0]
AT-101 R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1 [90141-22-3]
Bax channel blocker Potent inhibitor of Bax-mediated mitochondrial cytochrome c release. [335165-68-9]
Bax inhibitor peptide P5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-83-4]
Bax inhibitor peptide V5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-81-2]
Bax inhibitor peptide, negative control Negative control peptide for the Bax inhibitor peptides V5 and P5 [1315378-74-5]
BM-1074 potent and efficacious Bcl-2/Bcl-xL inhibitor [1391108-10-3]
Gambogic Acid activates caspases with EC50 of 0.78-1.64 uM and competitively inhibits Bcl-XL, Bcl-2, Bcl-W, Bcl-B, Bfl-1 and Mcl-1 [2752-65-0]
HA14-1 non-peptidic ligand of a Bcl-2 [65673-63-4]
Marinopyrrole A novel and specific Mcl-1 inhibitor [1227962-62-0]
MIM1 Inhibitor of Mcl-1
Obatoclax mesylate (GX15-070) potently inhibits BCL-2 family [803712-79-0]
Sabutoclax pan-Bcl-2 inhibitor [1228108-65-3]
TW-37 potent small-molecule inhibitor of BCL-2 [877877-35-5]
WEHI-539 high affinity (subnanomolar) and selectivity for BCL-XL [1431866-33-9]

(5) Tocris Compounds for BCL2 Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic [90141-22-3]
Bax channel blocker Inhibits Bax-mediated mitochondrial cytochrome c release [335165-68-9]
Bax inhibitor peptide V5 Inhibitor of Bax-mediated apoptosis [579492-81-2]
HA14-1 Bcl-2 inhibitor. Induces apoptosis [65673-63-4]
MIM1 Mcl-1 inhibitor; proapoptotic

(4) Drugbank Compounds for BCL2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Docetaxel
  • Docetaxel anhydrous
114977-28-5 target
Ibuprofen
  • Ibuprophen
15687-27-1 target modulator
Paclitaxel
  • 7-epi-Paclitaxel
33069-62-4 target inhibitor
Rasagiline
136236-51-6 target activator

(126) Novoseek inferred chemical compound relationships for BCL2 Gene

Compound -log(P) Hits PubMed IDs
genasense 81.3 29
noxa 75.3 43
dutp 75.2 38
adpribose 71.7 45
paclitaxel 71.3 228

(3) PharmGKB related drug/compound annotations for BCL2 Gene

Drug/compound Annotation
carboplatin CA
docetaxel CA
paclitaxel CA
genes like me logo Genes that share compounds with BCL2: view

Transcripts for BCL2 Gene

Unigene Clusters for BCL2 Gene

B-cell CLL/lymphoma 2:
Representative Sequences:

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 for BCL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCL2 Gene

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

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 36
  • 100 (n)
  • 100 (a)
BCL2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2 36
  • 90.39 (n)
  • 93.01 (a)
BCL2 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL2 36
  • 90.79 (n)
  • 89.54 (a)
BCL2 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2 36
  • 88.28 (n)
  • 90.25 (a)
Bcl2 16
Bcl2 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL2 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2 36
  • 87.85 (n)
  • 88.14 (a)
chicken
(Gallus gallus)
Aves BCL2 36
  • 74.62 (n)
  • 77.03 (a)
BCL2 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2 37
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2 36
  • 62.9 (n)
  • 63.6 (a)
zebrafish
(Danio rerio)
Actinopterygii bcl2 37
  • 47 (a)
OneToMany
BCL2 (2 of 2) 37
  • 50 (a)
OneToMany
Species with no ortholog for BCL2:
  • 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)

Paralogs for BCL2 Gene

Paralogs for BCL2 Gene

Selected SIMAP similar genes for BCL2 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
rs596876 -- 63,253,921(-) GGTGG(A/G)AAAAA intron-variant
rs641060 -- 63,237,955(-) AGAGG(A/G)AAAAA intron-variant
rs720321 -- 63,215,417(+) GTCAT(A/G)AAAAA intron-variant
rs720849 -- 63,138,220(-) CGGCC(A/G)CCACT intron-variant
rs726510 -- 63,245,827(-) AAAAA(C/G)TTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2717199 CNV Deletion 23290073
esv2086747 CNV Deletion 18987734
dgv3424n71 CNV Loss 21882294
nsv909689 CNV Loss 21882294
esv2571485 CNV Deletion 19546169
esv1611780 CNV Insertion 17803354
esv2667157 CNV Deletion 23128226
esv2717200 CNV Deletion 23290073
nsv2334 CNV Insertion 18451855
esv6445 CNV Gain 19470904
esv1004886 CNV Insertion 20482838
nsv131879 CNV Insertion 16902084
esv1187842 CNV Insertion 17803354

Relevant External Links for BCL2 Gene

HapMap Linkage Disequilibrium report
BCL2
Human Gene Mutation Database (HGMD)
BCL2

Disorders for BCL2 Gene

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.

(6) University of Copenhagen DISEASES for BCL2 Gene

(93) Novoseek inferred disease relationships for BCL2 Gene

Disease -log(P) Hits PubMed IDs
lymphoma follicular 87.1 172
tumors 83.8 397
lymphoma b-cell 82.4 156
lymphoma 78.3 222
cancer 77.8 200

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

Relevant External Links for BCL2

Genetic Association Database (GAD)
BCL2
Human Genome Epidemiology (HuGE) Navigator
BCL2
Tumor Gene Database (TGDB):
BCL2
genes like me logo Genes that share disorders with BCL2: view

Publications for BCL2 Gene

  1. Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. (PMID: 2250705) Hockenbery D. … Korsmeyer S.J. (Nature 1990) 3 4 23
  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 S.J. (Mol. Cell. Biol. 1999) 3 4 23
  3. Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers. (PMID: 11325850) Tsukasaki K. … Koeffler H.P. (Cancer Res. 2001) 3 23 49
  4. Frequent incidence of somatic mutations in translocated BCL2 oncogenes of non-Hodgkin's lymphomas. (PMID: 1339299) Tanaka S. … Reed J.C. (Blood 1992) 3 4 23
  5. Germline BCL-2 sequence variants and inherited predisposition to prostate cancer. (PMID: 16733517) Kidd L.R. … Kittles R.A. (Prostate Cancer Prostatic Dis. 2006) 3 23 49

Products for BCL2 Gene

  • Addgene plasmids for BCL2

Sources for BCL2 Gene

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