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BCL2 BCL2 apoptosis regulator [ Homo sapiens (human) ]

Gene ID: 596, updated on 22-Nov-2020

Summary

Official Symbol
BCL2provided by HGNC
Official Full Name
BCL2 apoptosis regulatorprovided by HGNC
Primary source
HGNC:HGNC:990
See related
Ensembl:ENSG00000171791 MIM:151430
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Bcl-2; PPP1R50
Summary
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]
Expression
Broad expression in thyroid (RPKM 21.9), spleen (RPKM 9.1) and 20 other tissues See more
Orthologs

Genomic context

See BCL2 in Genome Data Viewer
Location:
18q21.33
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63123346..63320280, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (60790579..60987011, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4133 Neighboring gene uncharacterized LOC105372161 Neighboring gene 3-ketodihydrosphingosine reductase Neighboring gene proteasome 26S subunit, ATPase 5 pseudogene Neighboring gene vacuolar protein sorting 4 homolog B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
GeneReviews: Not available
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Treatment of monocyte-derived dendritic cells with HIV-1 gp120 downregulates the expression of the anti-apoptotic molecules BCL-2 and BCL-xL PubMed
env Binding of HIV-1 gp120 to CD4 downregulates Bcl-2 protein in CD4+ T lymphocytes and facilitates Fas/Fas-ligand triggered apoptosis; addition of IL-2 rescues CD4+ T cells from CD4/gp120-induced Bcl-2 down modulation and apoptosis induction PubMed
env Binding of HIV-1 envelope protein gp120 to CD4 downregulates Bcl-2 expression; this effect is inhibited by gp17/GCDFP-15, which blocks the ability of CD4 to interact with gp120, leading to moderate up-regulation of Bcl-2 PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160-induced apoptosis is affected in part by the release of TNF-alpha and is associated with attenuated Bcl-2 mRNA expression PubMed
Nef nef Recombinant HIV-1 Nef upregulates expression of antiapoptotic proteins BCL2, AKT1, and XIAP in THP-1 cells and primary blood macrophages PubMed
nef HIV-1 Nef enhances apoptosis in CD4+ human lymphoblastoid cell lines through mechanisms that include the downregulation of the anti-apoptotic proteins Bcl-2 and Bcl-XL PubMed
Tat tat HIV-1 Tat induces apoptosis of human blood-retinal barrier-associated cells by downregulation of BCL2 and upregulation of BAK, BAX, and cytochrome c in a dose-dependent manner PubMed
tat HIV-1 clade B and C Tat downregulate the expression of BCL2 in primary glia PubMed
tat HIV-1 Tat inhibits IL7-induced upregulation of BCL-2 in CD4 T-cells PubMed
tat HIV-1 Tat upregulates Bcl-2 expression in a variety of cell types (PBMC, MDM, Jurkat, HeLa, etc.), an effect that is linked to the ability of Tat to inhibit apoptosis PubMed
tat HIV-1 Tat modulates BCL2 expression in neuron cells PubMed
tat FasL-induced cleavage of BID/p22 and BCL-2 proteins is inhibited in HIV-1 Tat101-expressing Jurkat cells PubMed
tat PDGF-BB protects neurons against HIV-1 Tat and morphine-induced apoptosis by promoting Bcl2 and inhibiting Bax expression PubMed
tat HIV-1 Tat-induced apoptosis through increased expression of anti-apoptotic protein Bcl-2, proapoptotic protein Bax and activation of caspases CASP3 and CASP9 is inhibited by estrogen receptor beta (ER)-mediated estrogen treatment PubMed
tat Expression of HIV-1 Tat in hematopoietic cells results in downregulation of Bcl-2 and induction of apoptosis PubMed
tat Tat-expressing EBV-positive B cells show downregulation of Bcl-2, and in serum starvation conditions display the Retinoblastoma (Rb) hyper-phosphorylated form, progress throughout the cell cycle, and retain the ability to grow in small clumps PubMed
tat A fusion protein between HIV-1 Tat and a Bcl-2 construct with the loop domain deleted (TAT-Bcl-2Deltaloop) binds to neural cell and rat brain mitochondria to increase the survival of cortical neurons PubMed
tat Tumor protein p73 interferes with Tat-mediated apoptosis by preventing the up-regulation of Bax and down-regulation of Bcl-2 proteins in astrocytes PubMed
Vpr vpr Treatment of human PBMCs with HIV-1 Vpr peptide (amino acids 52-96) significantly downregulates expression of Bcl-2 PubMed
vpr Constitutive expression of HIV-1 Vpr in Jurkat cells or transgenic mice resulted in upregulation of Bcl-2, providing evidence for the role of Vpr in the regulation of apoptosis during HIV-1 replication PubMed
vpr Bcl-2 inhibits or reduces HIV-1 Vpr mediated cytotoxicity, induction of mitochondrial membrane permeabilization and apoptosis PubMed
retropepsin gag-pol Protein/protein interactions of virus/autophagy-associated proteins by yeast two-hybrid array reveals the interaction between HIV-1 PR and BCL2 PubMed
gag-pol Purified bcl-2 is cleaved by HIV-1 protease between phenylalanine 112 and alanine 113 PubMed
gag-pol HIV-1 protease depletes infected cells of bcl-2, leading to oxidative stress-dependent activation of NF kappa B, a cellular factor required for HIV transcription, and ultimately to cell death PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
channel activity IDA
Inferred from Direct Assay
more info
PubMed 
channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphatase 2A binding IEA
Inferred from Electronic Annotation
more info
 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
B cell lineage commitment IEA
Inferred from Electronic Annotation
more info
 
B cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
CD8-positive, alpha-beta T cell lineage commitment IEA
Inferred from Electronic Annotation
more info
 
T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
axon regeneration IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell aging IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucose starvation IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cochlear nucleus development IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
digestive tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ear development IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum calcium ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
female pregnancy NAS
Non-traceable Author Statement
more info
PubMed 
focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
gland morphogenesis IEA
Inferred from Electronic Annotation
more info
 
glomerulus development IEA
Inferred from Electronic Annotation
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
humoral immune response TAS
Traceable Author Statement
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic apoptotic signaling pathway in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
lymphoid progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
melanin metabolic process IEA
Inferred from Electronic Annotation
more info
 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell development IEA
Inferred from Electronic Annotation
more info
 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagy TAS
Traceable Author Statement
more info
PubMed 
negative regulation of calcium ion transport into cytosol IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular pH reduction IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator TAS
Traceable Author Statement
more info
PubMed 
negative regulation of mitochondrial depolarization TAS
Traceable Author Statement
more info
PubMed 
negative regulation of myeloid cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
negative regulation of osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of retinal cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process TAS
Traceable Author Statement
more info
PubMed 
oocyte development IEA
Inferred from Electronic Annotation
more info
 
organ growth IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-threonine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
pigment granule organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of glycoprotein biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane permeability ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of mitochondrial membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of nitrogen utilization IEA
Inferred from Electronic Annotation
more info
 
regulation of protein stability IEA
Inferred from Electronic Annotation
more info
 
regulation of transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of viral genome replication IEA
Inferred from Electronic Annotation
more info
 
release of cytochrome c from mitochondria ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
release of cytochrome c from mitochondria NAS
Non-traceable Author Statement
more info
PubMed 
renal system process IEA
Inferred from Electronic Annotation
more info
 
response to UV-B IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
response to iron ion IDA
Inferred from Direct Assay
more info
PubMed 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IDA
Inferred from Direct Assay
more info
PubMed 
response to radiation NAS
Non-traceable Author Statement
more info
PubMed 
response to toxic substance IDA
Inferred from Direct Assay
more info
PubMed 
spleen development IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
pore complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
apoptosis regulator Bcl-2
Names
B-cell CLL/lymphoma 2
protein phosphatase 1, regulatory subunit 50

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009361.1 RefSeqGene

    Range
    5001..201035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000633.3NP_000624.2  apoptosis regulator Bcl-2 isoform alpha

    See identical proteins and their annotated locations for NP_000624.2

    Status: REVIEWED

    Source sequence(s)
    AC021803, AC022726
    Consensus CDS
    CCDS11981.1
    UniProtKB/Swiss-Prot
    P10415
    UniProtKB/TrEMBL
    A0A024R2B3
    Related
    ENSP00000329623.3, ENST00000333681.5
    Conserved Domains (1) summary
    TIGR00865
    Location:1239
    bcl-2; apoptosis regulator
  2. NM_000657.3NP_000648.2  apoptosis regulator Bcl-2 isoform beta

    See identical proteins and their annotated locations for NP_000648.2

    Status: REVIEWED

    Source sequence(s)
    AC021803
    Consensus CDS
    CCDS45882.1
    UniProtKB/Swiss-Prot
    P10415
    UniProtKB/TrEMBL
    A0A024R2C4
    Related
    ENSP00000466417.1, ENST00000589955.2
    Conserved Domains (1) summary
    TIGR00865
    Location:1195
    bcl-2; apoptosis regulator

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63123346..63320280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025917.2XP_016881406.1  apoptosis regulator Bcl-2 isoform X2

  2. XM_011526135.3XP_011524437.1  apoptosis regulator Bcl-2 isoform X1

    Conserved Domains (3) summary
    smart00265
    Location:733
    BH4; BH4 Bcl-2 homology region 4
    cd06845
    Location:86201
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    TIGR00865
    Location:1203
    bcl-2; apoptosis regulator

RNA

  1. XR_935248.3 RNA Sequence

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