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Aliases for BCL2 Gene

Aliases for BCL2 Gene

  • B-Cell CLL/Lymphoma 2 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 50 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 50 2
  • 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]

GeneCards Summary for BCL2 Gene

BCL2 (B-Cell CLL/Lymphoma 2) is a Protein Coding gene. Diseases associated with BCL2 include follicular lymphoma and lymphoma. Among its related pathways are Immune System and RXR and RAR heterodimerization with other nuclear receptor. 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). 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

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

Genomics for BCL2 Gene

Regulatory Elements for BCL2 Gene

Promoters for BCL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BCL2 Gene

Chromosome:
18
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

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 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

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

Assay Products

  • Enzo Life Sciences assays for BCL2

No data available for DME Specific Peptides for BCL2 Gene

Domains & Families for BCL2 Gene

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

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

Gene Ontology (GO) - Molecular Function for BCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031625 ubiquitin protein ligase binding IPI 20889974
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for BCL2 Gene COMPARTMENTS Subcellular localization image for BCL2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
cytoskeleton 2
extracellular 2
plasma membrane 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for BCL2 Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Inhibition, inhibitor, Biomarker, Target Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1844
Paclitaxel Approved Pharma inhibitor, Biomarker, binder, Target Tubulin and Bcl2 inhibitor, Taxanes 2621
Carboplatin Approved Pharma Biomarker Antitumor agent that forms platinum-DNA adducts., Platinum 1885
Rasagiline Approved Pharma Target, activator 53
Cisplatin Approved Pharma Biomarker, inhibitor Inhibits DNA synthesis,chemotherapy drug, Platinum 2540

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Bax inhibitor peptide, negative control
1315378-74-5
SMBA 1
906440-37-7
genes like me logo Genes that share compounds with BCL2: view

Drug Products

Transcripts for BCL2 Gene

Unigene Clusters for BCL2 Gene

B-cell CLL/lymphoma 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

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, 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 expression patterns with BCL2: view

Protein tissue co-expression partners for BCL2 Gene

In Situ Assay Products

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 35
  • 100 (n)
  • 100 (a)
BCL2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2 36
  • 95 (a)
OneToOne
BCL2 35
  • 90.39 (n)
  • 93.01 (a)
dog
(Canis familiaris)
Mammalia BCL2 35
  • 90.79 (n)
  • 89.54 (a)
BCL2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2 16
Bcl2 35
  • 88.28 (n)
  • 90.25 (a)
Bcl2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCL2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2 35
  • 87.85 (n)
  • 88.14 (a)
chicken
(Gallus gallus)
Aves BCL2 35
  • 74.62 (n)
  • 77.03 (a)
BCL2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2 35
  • 62.9 (n)
  • 63.6 (a)
zebrafish
(Danio rerio)
Actinopterygii bcl2 36
  • 47 (a)
OneToMany
BCL2 (2 of 2) 36
  • 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

(4) 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
VAR_000827 -
VAR_000828 Non-Hodgkin lymphoma
VAR_000829 Non-Hodgkin lymphoma
rs1800477 - 63,318,540(-) gggcc(A/G)ccccc nc-transcript-variant, reference, missense
rs596876 -- 63,253,921(-) GGTGG(A/G)AAAAA 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

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)

Relevant External Links for BCL2 Gene

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

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

Disorders for BCL2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
follicular lymphoma
  • lymphoma, follicular
lymphoma
  • lymphoid cancer
diffuse large b-cell lymphoma
  • large b cell diffuse lymphoma
benign mammary dysplasia
intravascular large b-cell lymphoma
  • angioendotheliomatosis proliferans systemisata
- 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

Relevant External Links for BCL2

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

Publications for BCL2 Gene

  1. Genetic variation in chromosomal translocation breakpoint and immune function genes and risk of non-Hodgkin lymphoma. (PMID: 20087644) Fernberg P. … EkstrAPm Smedby K. (Cancer Causes Control 2010) 3 48 67
  2. Neoadjuvant docetaxel treatment for locally advanced prostate cancer: a clinicopathologic study. (PMID: 17674353) Magi-Galluzzi C. … Klein E.A. (Cancer 2007) 23 25 26
  3. Bcl-2 expression as a predictive marker of hormone-refractory prostate cancer treated with taxane-based chemotherapy. (PMID: 17062688) Yoshino T. … Igawa M. (Clin. Cancer Res. 2006) 23 25 26
  4. Expression of basic fibroblast growth factor correlates with resistance to paclitaxel in human patient tumors. (PMID: 16741658) Gan Y. … Au J.L. (Pharm. Res. 2006) 23 25 26
  5. Regulation of Bcl-2 family proteins, neurotrophic factors, and APP processing in the neurorescue activity of propargylamine. (PMID: 16148027) Bar-Am O. … Youdim M.B. (FASEB J. 2005) 3 25 26

Products for BCL2 Gene

  • Addgene plasmids for BCL2

Sources for BCL2 Gene

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